Brain death

Online lecture delivered by Dr.Najmi Usmani about how to label brain death in children.

(in urdu language)

APPROACH TO A CHILD WITH LARGE HEAD

• Introduction and proper exposure of the patient
• Interact with child, gain an impression of the development

1.General observations (for 30 sec at least)

• Alertness
• Respiratory pattern (raised ICP)
• Dysmorphic features (e.g., Soto’s, mucopolysaccharidoses)
• Skeletal anomalies (e.g., achondroplasia, Osteogenesis imperfect)
• Growth Parameters
  • Height: tall (e.g., Soto’s); short (e.g., achondroplasia)
  • Weight: failing to thrive (e.g., Tay–Sachs, subdural from non-accidental injury, congenital toxoplasmosis)
• Movement
  • Quality (e.g., hypotonia, poor head control in Tay–Sachs)
  • Symmetry (e.g., hemiplegia from a subdural hematoma)
  • Upper limb versus lower limb movements (e.g., spina bifida)
• Skin
  • Neurocutaneous stigmata (e.g., Tuberous sclerosis, NF1, Sturge-Weber syndrome; Klippel-Trénauney-Weber syndrome)
  • Bruising (Non-accidental injury)

2. HEAD

• Initial inspection
  • Size, shape
  • Signs of hydrocephalus (scalp vein prominence, shiny skin, sun-setting eyes)
  • Eye signs, e.g., squint
  • V-tap bandage/scars
• ASK THE CHILD TO SIT IF POSSIBLE
• Size
  • Measure head circumference: patient; parents
  • Request progressive percentiles
  • The head circumference is measured by putting tape over the occipital protuberance at the back and over the supraorbital ridge and the glabella in front.
  • HC should be taken three times at least.
• Shape (Describe with infant supine initially; then sit child up)
  • Frontal prominence (obstructive hydrocephalus)
  • Parietal prominence (subdural fluid, porencephalic cyst)
  • Occipital prominence (Dandy walker syndrome)
  • Small posterior fossa (aqueduct stenosis)
  • Flat occiput (Arnold-Chiari malformation)
• Check back. (Look at the back at this point, for spina bifida/scars)
• Palpate (With child sitting up; interact with the child and observe responsiveness, eye movements)
  • Craniotabes (rickets)
  • Split sutures (hydrocephalus)
  • Bulging fontanelle (hydrocephalus)
  • Absent fontanelle pulsation (hydrocephalus)
  • Shunts—trace shunt tubing, look for chest (VA) and abdomen (VP) scars
• Auscultate (temporal, mastoid, and Frontal areas, over eyes)
  • Bruit (AV malformation of the great vein of Galen, causing increased CSF)
• Transillumination test: In the anterior fontanelle, a transillumination of more than 2 cm around the beam’s edge or asymmetry of the transillumination suggests pathology.

3.EYES

• Ptosis (third nerve palsy)
• Nystagmus (brainstem tumor)
• Squint (sixth, third nerve palsies)
• Proptosis (NF1 with orbital wall defect or optic nerve tumor)
• Corneal clouding (MPS)
• Visual acuity (impaired)
  • Retinal causes (e.g., optic atrophy, retinal hemorrhage)
  • Optic pathway causes (e.g., intracerebral glioma, optic nerve glioma; both can occur in NF1)
• Visual fields: field defect (e.g., porencephalic cyst, intracerebral tumor)
• External ocular movements
  • Third nerve palsy (e.g., raised ICP)
  • Sixth nerve palsy (e.g., raised ICP)
  • Upward gaze palsy (e.g., pinealoma)
• Pupils
  • Enlarged (third nerve palsy)
  • Unreactive to light (Parinaud’s syndrome from dilated third ventricle)
• Lens: cataracts (congenital toxoplasmosis)
• Fundi
  • Papilledema (raised ICP with closed fontanelle)
  • Optic atrophy (long-standing raised ICP)
  • Retinal hemorrhage (non-accidental injury)
  • Astrocytic hamartoma (Tuberous Sclerosis)
  • Chorioretinitis (congenital toxoplasmosis)
  • Macular degeneration (lipidoses)

4.Anthropometry and gait

If possible, ask the child to stand up and do

• Weight
• Height
• Plot on centile charts
• Check gait (ASK child to move back to couch)
• Look for scoliosis

5.Lower limbs: Full examination of the motor system

• Upper motor neuron signs (hydrocephalus, intracranial tumor)
• Lower motor neuron signs (spina bifida, leukodystrophies)
• Cerebellar signs (Dandy walker )

6.Upper limbs: Full motor examination (as with lower limbs)

7.Developmental assessment

• Gross motor: delayed (e.g., hydrocephalus, inherited metabolic diseases)
• Fine motor: delayed (e.g., inherited metabolic diseases, neurocutaneous disorders)
• Hearing: impaired (e.g., post-meningitis, MPS) (clap/call name)

8.Abdomen

• Hepatosplenomegaly (MPS, Metabolic disorders, TORCH infection)
• Genitalia for urinary and fecal incontinence

9.Chest examination in case of IU infections for associated cardiac abnormalities

Normal Head circumference

Head circumference	Age
35 cm	at birth.
47 cm (another 12 cm).	1 year
49 cm (another 2 cm).	2 years
50 cm.	3 years
52 cm.	6 years
53 cm.	10 years
56 cm	adult

The term Macrocephaly refers to OFC of more than 2SD above the mean

The most important things to remember in this case:

1. Always measure the head yourself until a constant result around the largest diameter is obtained (usually three times is enough).
2. Always measure the parents’ heads (in a similar fashion).
3. Always request the progressive percentiles of the child (parents’ charts unavailable).
4. Always examine the back to avoid missing spinal dysraphism.
5. Always examine the lower limbs before the upper limbs, as the lower limbs are first affected in hydrocephalus because the tracts supplying them run closer to the ventricles.
6. Always examine the eye movements, in particular, the upward gaze (for Parinaud syndrome, from raised intracranial pressure [ICP] compressing the mesencephalic tectum/superior colliculus) and lateral rectus function (for raised ICP compressing the sixth nerve).

Lymphadenopathy

Physical characteristics of normal nodes

Normal lymph nodes number around 600 in the body. It is normal to palpate cervical, axillary, and inguinal nodes in perfectly well children, but the size should be less than 1 cm in the greatest diameter and soft consistency.

Lymph nodes reach the largest total lymph node mass at the age of about 8–12 years and start to get reduced with atrophy after adolescence. Therefore, in young children, 2 cm in the neck, 1 cm in the axilla, and 1.5 cm in the inguinal region are normal values, and they do not require investigation.

Epitrochlear and supraclavicular lymph nodes need further investigation, as they may be related to malignancy, even if they are 0.5 cm or less in size.

For any palpable lymph node, it is important to assess the following physical characteristics to help to make the differential diagnosis:

• Site: evaluate the lymph node’s location in relation to other anatomical structures.
  • Size: evaluate the size of the lymph node.
  • Shape: evaluate the lymph node’s borders to determine if they feel regular or irregular.
  • Consistency: decide if the lymph node feels soft, hard, or rubbery.
  • Tenderness: take note of if the lymph node is tender on palpation.
  • Mobility: evaluate if the lymph node feels mobile or is tethered to other local structures.
  • Overlying skin changes: notice any overlying skin changes such as erythema.

Examination procedure

• Do the preliminary observations of whether the child appears well or unwell?
• Check the growth parameters of head circumference, weight, and height.

 Unwell children may have infective or infiltrative conditions. For example, children with Kawasaki disease are remarkably irritable. Underweight children may have immune deficiencies, chronic diseases, or malignancy. Overweight children may have hidradenitis suppurativa (axillary adenopathy in the obese).

• Check the vital signs: fever and tachycardia may accompany infective or infiltrative diagnoses; BP may be elevated with certain tumors and connective tissue disorders with renal involvement, or decreased with sepsis or Addison disease; pulse pressure may be widened in hyperthyroidism; respiratory rate may be elevated with infective or infiltrative conditions.
• Note any pallor (e.g. ALL), ecchymoses, purpura or petechiae (e.g. ALL, AML).
• Scan the skin; children with atopic dermatitis often have lymphadenopathy.
• Stand back and look for any asymmetry in the head and neck, and quickly scan for goiter.

Start examination

• Examine all the lymph node groups.
• Check for head and neck
  • Submental
  • Submandibular
  • Tonsillar
  • Parotid
  • Pre-auricular
  • Post-auricular
  • Superficial cervical
  • Deep cervical
  • Posterior cervical
  • Occipital
  • Supraclavicular
• Begin beneath the chin (submental lymph nodes), then move posteriorly beneath the jaw (submandibular lymph nodes), move upwards at the angle of the mandible (tonsillar and parotid lymph nodes), and examine anterior (preauricular lymph nodes) and behind the ears (posterior auricular lymph nodes).
• Palpate the posterior border of the sternocleidomastoid (posterior cervical chain) to the mastoid process, then down the anterior border of the sternocleidomastoid (anterior cervical chain) to the clavicle.
• Perform palpation over the occipital protuberance (occipital lymph nodes).
• Instruct the patient to tilt their head (bring their ear towards their shoulder) on either side and palpate at the back of the posterior border of the clavicle inside the supraclavicular fossa (supraclavicular and infraclavicular lymph nodes).
• After checking the neck, check for epitrochlear nodes. To assess for epitrochlear lymphadenopathy:
  • Using your corresponding hand, grasp the wrist of the side to be examined (i.e., right to right).
  • Grasp behind the olecranon process with your opposite hand’s fingers. Palpate the inside aspect of the arm immediately above the medial epicondyle of the humerus with your thumb over the crease of the elbow.
  • Look for lymphadenopathy, which can be caused by metastatic melanoma in the arm, or diseases that cause generalized lymphadenopathy.
• If the finding is cervical nodes only, the head and neck need to be examined thoroughly.
  • The ears, nose, and throat must be examined with the auroscope, including carefully inspecting the teeth and gums.
  • If any teeth appear carious, then wear gloves to palpate them for tenderness.
  • Look at the external aspects of the eyes, for conjunctivitis (which can occur with Kawasaki disease, Parinaud’s oculo-glandular syndrome [with preauricular lymphadenopathy] or leptospirosis), and for Horner’s syndrome, which can occur with neuroblastoma.
  • Inspect and palpate the scalp for infected areas (hiding under the hair, such as tinea capitis or a kerion).
• and then axillary nodes,
  • When inspecting the right axilla, take the patient’s right forearm in your right hand and advise them to relax it completely, letting you support their weight. This relaxes the axillary muscles.
  • The left hand should then be used for palpation. When examining the left axilla, the procedure is reversed.
  • The axilla should be examined for lymph nodes in the pectoral (anterior), central (medial), subscapular (posterior), humoral (lateral), and apical groups.

Here is an example of a systematic approach you may use:

• Palpate at the back of the lateral edge of the pectoralis major (pectoral/anterior) with your palm facing towards you.
  • Turn your hand medially, and using the pulps of your fingers, palpate against the wall of the thorax (central/medial) with your fingertips near the apex of the axilla.
  • Now, with your palm facing away from you, feel inside the lateral edge of the latissimus dorsi (subscapular/posterior).
  • Palpate the axilla (humoral/lateral) on the inside of the arm.
  • Using your fingertips, reach up into the axilla’s peak (warn the patient this may be uncomfortable).
  • Repeat the assessment on the contralateral axilla.
• Inguinal and subinguinal lymph nodes, and finally popliteal lymph nodes. To assess for inguinal lymphadenopathy:
  • Request the patient to remove their pants and underwear to reveal the inguinal region.
  • Tell the patient to lie flat on the bed.
  • Examine the area for any noticeable swellings or abnormalities.
  • Assess the horizontal group of superficial inguinal lymph nodes by immediately palpating inferior to the inguinal ligament (anterior superior iliac spine and pubic tubercle).
  • Place your fingers 3cm lateral to the pubic tubercle and palpate vertically downwards over the saphenous aperture and the proximal portion of the great saphenous vein to examine the vertical group of superficial inguinal lymph nodes. If there are two groups of nodes enlarged, then it is considered generalized.
• Examine the skin for any local lesions (such as herpetic infections [HSV I or II, HVZ], cat-scratch disease’s papular lesions on hands/ fingers [Bartonella henselae], any inflamed areas, reddened, cellulitic, or purulent from staphylococcal or streptococcal infection; any generalized rash [rubella classically causing suboccipital lymphadenopathy; Kawasaki disease can have many types of rash; SLE causes a malar rash]) or discoloration over the nodes themselves (purplish discoloration classic for MAIS).
• Examine the chest for any evidence of asthma (for underlying Churg–Strauss syndrome, or diffuse pulmonary Langerhans cell histiocytosis) or histoplasmosis (from inhaling fungal spores, Histoplasma capsulatum).
• Examine the abdomen for hepatosplenomegaly (Malignancy [neuroblastoma, lymphoma], ALL/AML, Toxoplasmosis, CMV, Connective tissue disorders, HIV, EBV, Syphilis).
• Examine the musculoskeletal system looking for: skeletal tenderness at the sternum, clavicles, ribs, pelvis, tibiae (tibial infiltrates); joint tenderness; swelling; or decreased range of movement (ALL, AML, JIA).

A brief list of typical causes for typical locations of nodes

• Cervical:

oropharyngeal/scalp infection (viral [usual URTI pathogens, EBV, CMV, HSV, HHV-6], streptococcus, staphylococcus, mycobacteria [TB, MAIS]).

cat-derived: cat-scratch disease; toxoplasmosis.

Kawasaki disease.

Dental caries

• Supraclavicular:

(a) left side: intraabdominal malignancy; (b) right side: intra-mediastinal malignancy or infection.

Lymphoma.

TB.

• Epitrochlear:

hand or arm infection.

Cat-scratch disease.

Lymphoma.

• Axillary:

arm or chest wall infection or malignancy.

Animal-related: cat-scratch disease; brucellosis.

Lymphoma/leukemia.

• Abdominal:

malignancy.

TB.

Mesenteric adenitis from Yersinia enterocolitica, group A streptococcus or measles.

• Inguinal:

lower limb suppurative infection.

Perineal/Genito-urinary/venereal infection.

Malignancies (rhabdomyo- and non-rhabdomyosarcoma; Hodgkin’s and non-Hodgkin’s lymphoma, neuroblastoma).

• Popliteal: foot or leg infection.

APPROACH TO A CHILD WITH ANEMIA

Anemia (also written anaemia) is defined as a decrease in the total number of red blood cells (RBCs) or hemoglobin or a reduction in the blood’s ability to carry oxygen. In this post, we will discuss how to approach a child with anemia and do a physical examination.

• Introduce yourself to child and parents
• First 30 seconds observe.

GENERAL INSPECTION

• Well or unwell (DIC, ALL, meningococcemia)
• Sex (hemophilia, G6PD deficiency in males)
• Race
  • Thalassemia in Mediterranean’s, Asians
  • SCA in African Americans, Jamaicans, Middle Easterners Syndrome (Fanconi, Blackfan–Diamond, TAR) Thalassemic ‘chipmunk’ facies
• Parameters: height, weight, head circumference, percentiles
• Pubertal status: delayed (thalassemia, SCA)
• Nutritional status
• Posture: hemiplegia (hemophilia, SCA)
• Skin
  • Pallor
  • Petechiae, purpura, ecchymoses (ALL, AML, aplastic anemia, ITP)
  • Pigmentation (thalassemia)
  • Jaundice, scratch marks (hemolysis, CLD)
  • Cavernous hemangiomas (can cause Kasabach Merritt syndrome; MAHA)
  • Cigarette burns (NAI)
  • SLE rashes
  • CLD stigmata
  • Subcutaneous nodules (ALL)
  • Small angiomata (HHT)
  • Eczema (Wiskott–Aldrich syndrome)
  • Infected lesions (immune deficiency, ALL, AML)
• Joint swelling (hemophilia, HSP, SCA, leukemia, IBD, JIA)

Now approach the child

UPPER LIMBS

1. Structure of:
   1. Forearms (TAR)
   1. Thumbs (Fanconi, Blackfan–Diamond)
2. Joint swelling (JIA)
3. Nails
   1. Koilonychia (iron deficiency)
   1. Leukonychia (CLD)
   1. Clubbing (CHD, CLD)
4. Palms
   1. Crease pallor (anemia)
   1. Crease pigmentation (thalassemia)
   1. Erythema (CLD)
5. Pulse: tachycardia (anemia)
6. Epitrochlear nodes
7. BP
   1. Hypertension (CKD, HUS or as cause of MAHA)
   1. Hypotension (acute blood loss, cardiomyopathy)
   1. Raised pulse pressure (anemia)
8. Axillary nodes

HEAD AND NECK

1. Face (thalassemic facies, syndromic, Cushingoid, SLE)
2. Ears
   1. Abnormal structure (Fanconi)
   1. Discharge (Wiskott–Aldrich syndrome)
3. Eyes
   1. Squint (Fanconi, sixth cranial nerve palsy with intracranial bleed)
   1. Ptosis (Fanconi)
   1. Nystagmus (Fanconi, intracranial bleeding)
   1. Conjunctival pallor
   1. Scleral icterus
   1. Subconjunctival hemorrhage
   1. Cataracts (DFO or corticosteroid therapy)
4. Fundoscopy
   1. Retinal hemorrhage (ALL, AML, Non-Accidental Injury)
   1. Roth spots (SBE)
   1. Papilledema (raised intracranial pressure with ALL, AML, Non-Accidental Injury)
   1. Proliferative retinopathy (SCA)
   1. Retinopathy from DFO
5. Nose: evidence of epistaxis
6. Mouth: angular cheilosis (iron deficiency)
7. Tongue
   1. Pale atrophic (iron deficiency)
   1. Raw, beefy (B group vitamin deficiency)
   1. Red spots (HHT)
8. Gums
   1. Hypertrophy (ALL, AML)
   1. Inflammation (ALL, AML)
9. Palate: petechiae
10. Tonsils
    1. Hypertrophy (ALL, AML)
    1. Exudate (EB virus)
11. Neck: enlarged cervical nodes (viral infections, lymphomas, ALL, AML)

CARDIOVASCULAR SYSTEM

Full precordial examination, looking for evidence of:

• SBE
• Cardiac surgery (fragmentation anemia with artificial valves)
• Congenital heart disease (associated with bruising, syndromes)
• Cardiomyopathy (transfusion hemosiderosis with thalassemia or SCA)
• Cardiac failure (anemia)

ABDOMEN

1. Distension (due to hepatosplenomegaly)
2. Needle marks on abdomen (DFO treatment)
3. Splenomegaly
   1. Haemoglobinopathies
   1. Malignancy (ALL, AML)
   1. Infection (SBE)
   1. Osteopetrosis
   1. Storage diseases
   1. Congenital spherocytosis
4. Hepatomegaly: as above, plus hepatitis and Wilson’s disease (decrease in clotting factors I, II and V)
5. Enlarged kidneys (ALL)
6. Adrenal mass (neuroblastoma)
7. Genitalia
   1. Tanner staging (delay with thalassemia, SCA)
   1. Testes: enlarged (ALL, HSP: orchitis or bleeding)
   1. Penis: priapism (SCA, ALL, CML)
8. Inguinal nodes
9. Spring pelvis (bony tenderness)
10. Posterior iliac crests (bone marrow aspiration site)
11. Buttocks (HSP rash)
12. Perianal region: fissures, fistulae (IBD)

LOWER LIMBS AND GAIT

1. Inspection
   1. Joint swelling (see above)
   1. Ulcers (SCA)
   1. Erythema nodosum (IBD)
2. Palpate: tibial tenderness (ALL, NAI)
3. Stand: Rombergism (vitamin B12 deficiency)
4. Walk
   1. Antalgic gait (hemophilia with hemarthrosis, ALL, SCA)
   1. Ataxic gait (vitamin B12 deficiency)
   1. Hemiplegic (hemophilia with intracranial bleed, SCA with cerebral sickling)
5. Depending on above findings, further examination of:
   1. Joints
   1. Peripheral nervous system
   1. Central nervous system

OTHER

1. Urinalysis
   1. Blood (haemophilia, SCA, HUS)
   1. Haemoglobin (intravascular haemolysis)
   1. Urobilinogen (haemolysis)
   1. Protein (renal disease)
   1. Specific gravity (SCA, CKD)
2. Stool analysis: blood (HSP, IBD)
3. Temperature chart
4. Hess test can be offered in older child if relevant

ALL = acute lymphoblastic leukaemia; AML = acute myeloid leukaemia; CHD = congenital heart disease; CLD = chronic liver disease; CKD = chronic kidney disease; DIC = disseminated intravascular coagulation; G6PD = glucose-6-phosphate dehydrogenase deficiency; HHT = hereditary haemorrhagic telangiectasia; HSP = Henoch–Schönlein purpura; HUS = haemolytic uraemic syndrome; IBD = inflammatory bowel disease; JIA = juvenile idiopathic arthritis; MAHA = microangiopathic haemolytic anaemia; NAI = non accidental injury; SBE = subacute bacterial endocarditis; SCA = sickle cell anaemia; SLE = systemic lupus erythematosus; TAR = thrombocytopenia absent radius.

Approach to a child with Ataxia

The word ataxia derives from ataktos, a Greek word meaning ‘lack of order’; it has been defined variously as a failure of coordination of the muscles; irregularity of muscle action; difficulty with walking/gait; the problem with movement orientation because of abnormal agonist-antagonist muscle coordination; or motor incoordination most notable when walking or sitting.

There is a spectrum of unsteadiness in walking, from ‘clumsy’ to profound ataxias.

Ataxia can be divided into three groups:

• Acute.
• Recurrent (also called episodic or intermittent).
• Chronic/progressive.

Acute ataxia (meaning evolution of symptoms within 3 days) has a few common causes which account for 80% of children with this:

1. intoxications; 2. infectious causes (varicella); and 3. post-infectious causes (Guillain-Barré syndrome).

Recurrent ataxia can be due to mitochondrial disorders or other metabolic disorders (aminoacidurias [e.g., Hartnup disease], organic acidaemias [e.g., Maple Syrup Urine Disease (MSUD)], or lysosomal storage diseases [e.g., Niemann-Pick type C]).

Progressive ataxia has a wide differential including hereditary ataxias, metabolic disorders, brain tumors, and neurodegenerative conditions such as leucodystrophies (adrenoleukodystrophy, metachromatic, Pelizaeus–Merzbacher disease). Although acute ataxia usually has a benign cause, recurrent and progressive ataxia generally indicates more serious pathology.

Mnemonics

Causes of ataxia are acute, episodic, and progressive (FLAMING SPINNER):

F=FRDA (Friedreich ataxia)

L=Labyrinthitis (vertigo causing ataxia)/Lysosomal storage diseases

A= AT (ataxia-telangiectasia), Abetalipoproteinaemia, Argininosuccinic aciduria

M= Medulloblastoma, Metabolic: MSUD (maple syrup urine disease), MLD (metachromatic leucodystrophy, also called arylsulfatase A [ARSA] deficiency), Metal disease: Wilson Disease, Migraine: basilar artery, Mitochondrial disorders (Kearns-Sayre, MERRF (myoclonic epilepsy with ragged red fibers), NARP (neuropathy, ataxia, and retinitis pigmentosa), Multiple sclerosis, Myxedema (hypothyroidism)

I= Infection (e.g., cerebellitis, meningitis, mastoiditis),IEMs (Inborn errors of metabolism, e.g., OTC [ornithine transcarbamylase deficiency]

N=Neuroblastoma (occult)

G=GBS (Guillain-Barré syndrome)/Genetic (hereditary) ataxias (many)

S= SCAs (spinocerebellar ataxias, autosomal dominant),SCARs (spinocerebellar ataxias, autosomal recessive),SPAX (spinocerebellar ataxias with prominent spasticity),Supratentorial tumours

P= Post-infectious cerebellitis, Posterior fossa tumors, Paroxysmal vertigo, Pellagra (niacin deficiency; can cause the four Ds: dermatitis (photosensitive), diarrhea, dementia, and death), Pellagra-like dermatosis (Hartnup disorder [HND]), Pyruvate Carboxylase deficiency, Psychogenic (not real ataxia, but impersonating this)

I=Intoxication/Ingestion (drugs)/Inner ear pathology (e.g. labyrinthitis)

N=Nutritional deficiencies: deficiencies of vitamin B1 (thiamine), B3 (niacin/nicotinic acid), B6 (pyridoxine), B12 (cobalamin), E

N=Neurodegenerative disorders

E=Ependymoma/EA (episodic ataxias)

R=Refsum disease, Rett syndrome

Examination

• Start by introducing yourself to the parent and the child.
• Note the child’s level of consciousness,
  • alertness (medications [toxins] or encephalopathies—e.g., acute disseminated encephalomyelitis [ADEM] can alter these),
  • quality of movement (e.g., choreoathetosis with AT)
  • any obvious asymmetry, such as head tilt (ataxia plus head tilt equals posterior fossa tumor until proved otherwise),
  • scoliosis (can occur in ataxic cerebral palsy or FRDA),
  • asymmetrical ataxia (which can mean brain tumor, stroke, or demyelinating disease).
• If the child is sitting or lying down when first seen, look around for any nearby peripheral aides such as a wheelchair.
• If the child’s feet are uncovered, note any pes cavus (FRDA).
• Stand back and look for
  • any rash, such as telangiectasia over the eyes and ears and bridge of the nose in AT,
  • resolving varicella (acute cerebellitis, post-infectious cerebellar ataxia);
  • pellagra-like rash, with hyperpigmented, crusted, and fissured well-defined plaques on sun-exposed areas of the face,
  • dorsum of hands and legs (Hartnup disease; ‘pellagrous glove and boot’);
  • urticaria (Kawasaki) or
  • purpura (Henoch–Schönlein); or (rarely)
  • ichthyosis with Refsum disease.
• Ask the child a few age-appropriate questions (e.g., their age, school, grade, teacher’s name, favorite subjects, and in older children, specifically ask their full name, current location, and day of the week), to get an impression of their orientation in time, place and person (for intoxications or encephalopathies) and the quality of their speech (e.g., slurring with AT).
• If the child is sitting or lying down initially, ask the child, parent, or examiners whether the child can walk. If the child can walk, then perform a gait examination. Focus on heel-toe (tandem) walking in particular to check cerebellar vermis function.

You can check the gait examination here http://medical-notes-revise-in-1-minute.com/2021/07/13/examination-of-the-gait/

• Also, note any scoliosis during the gait examination, which can occur with any more progressive neurodegenerative disorders, or with FRDA, Rett disorder, or ataxic cerebral palsy.
• When the child is walking on their heel and toes, any pes cavus should be easily seen (FRDA).
• In the lower limbs, focus on cerebellar and proprioceptive function and muscle strength;
• examine the upper limbs. Take note of the muscle bulk in the hands (for peripheral neuropathy), and take the pulse for any arrhythmia (embolic cause of cerebellar stroke, mitochondrial disease with pre-excitation, cardiomyopathy with mitochondrial disease or FRDA).
• During the cranial nerve examination,
  • thoroughly check the third, fourth and sixth nerve function,
  • look for nystagmus (many hereditary ataxias) or opsoclonus (neuroblastoma),
  • checking the hearing (acute middle and inner ear pathology, FRDA, Refsum).
  • Check the eyes carefully for visual acuity, visual fields, and then ask to examine the fundi (for evidence of papilloedema, retinitis, or optic atrophy).
• The other findings sought on the head and neck examination including
  •  checking the head circumference (for hydrocephalus, such as from aqueduct stenosis or tumors),
  • looking for scars of shunts or other neurosurgery, feeling the head for shunts, reservoirs.
  • Feel the hair (abnormal in argininosuccinic acid and AT),
  • look at the eyes (bulbar conjunctivae), nose and ears, for telangiectasia (AT).
  • Next, check the ears, nose, throat, and mastoids for infection (labyrinthitis) and,
  • if relevant, perform the Dix-Hallpike maneuver (only suggest this if you think the patient could have benign paroxysmal vertigo).
  • Then check for any other site of infection (for infectious or post-infectious ataxia causes), including checking for signs of meningitis if the child is febrile.
• A full cardiorespiratory examination is appropriate.
  • The BP is checked for hypertension (neuroblastoma, or hypertension as cause of stroke).
  • The heart is examined for murmurs or arrhythmias (embolic stroke).
• The chest is examined for two reasons: first to check for involvement in any neurological process that can affect respiratory reserve, as with GBS (get the child to count out loud; how far can they count?), and second to check for signs of chest infection, such as Mycoplasma which may present with crackles and wheezes.
• The abdomen should be examined for hepatosplenomegaly (EBV) or any masses (neuroblastoma).
• After your examination, present a relevant differential diagnosis and suggest the investigations most appropriate to confirm your diagnosis. This is a vast area. Suggesting brain (+/– spinal cord) imaging and gene tests are often appropriate.

Developmental assessment of child 1-5 year

Begin by introducing yourself to the parent and patient. Inspect for the following:

1. Growth parameters; for example, failure to thrive, associated with syndromic or chromosomal anomalies. Undernutrition or chronic illnesses can be associated with developmental delay, as may be small or large head size.

2. Evidence of any dysmorphic features (various syndromic diagnoses).

3. Obvious neurological abnormalities (including ‘floppy infant’ posturing, hemiplegic posturing, and involuntary movements).

The next step depends on the age of the child.

•A child small enough to be comfortably sat on his or her mother’s knee should be positioned there for assessment of vision, hearing, language, personal–social interaction and fine motor control. It is unwise to remove a child from his or her mother to perform a gross motor assessment first.

•If a child is older, then he or she may prefer to be examined sitting on a chair.

4. Always test vision before hearing. Fixing and following, and an approximation of visual acuity (e.g. the ability to pick up a toy or the ability to read in older children), are important. Testing of visual fields is not required. Testing each eye separately is desirable but can be difficult to achieve without upsetting an infant.

5.Testing hearing, with the infant on the mother’s lap, requires initial distraction with a non-noisemaking (i.e. purely visual) stimulus, directly in front of the child. This is then hidden, at which time the noisemaker (e.g. bell) is brought towards the ear from behind (out of range of visual fields) by an assistant (e.g. the chief examiner). On a signal given by yourself, the assistant makes a sound (e.g. rings the bell) at a certain distance from the ear (this varies for different ages), testing each ear in turn and noting whether the child’s facial expression, changes, and if the head turns towards the stimulus, localizing the sound (in older children). If the conditions are not optimal for testing hearing (e.g. fractious toddler), say so. If there is an equivocal result, it is reasonable to suggest a formal audiological assessment.

Throughout the testing described above, assessment of personal–social interaction and language can be performed. Do not forget to comment on any vocalizing the child does, or on interactions with you (e.g., smiling, waving, laughing), as these may give very valuable information, which can be overlooked if it is not actively considered as part of a developmental assessment.

Speech and hearing

• Name
• What is this? (any object)
• How Old are you
• Where do you live
• Do you know how to count?
• Rhymes

age	words
12months	2-6 words Turn to Own name
18 months	Up to 20 words Recognize objects
2yr	Up to 50 words Refers to self by name
3yr	Knows name, age, sex Counts to ten.
4yr	Full name+ address Counts to 20
5yr	Name, age, birthday

6.The fine motor assessment can then be performed.

Ensure that you have appropriate objects in your case to test fine motor functions such as pencils, colors, books, a plastic knife, fork, and spoon set.

FINE MOTOR DEVELOPMEN

• Cubes
• Pencil/crayons/paper
• Book with animals (Turn pages)
• Name pictures, Body parts.

Age	Fine motor
12 months	2 cubes click together try to build a tower Turn pages of book (several) Pincer Grasp
18 months	3cuber (Tripod grasp) Hold pencil and scribbles Turn several pages. Name pictures (animals and body parts)
2yr	6 cubes. + train Draw straight line Turn pages singly
3yr	9 cubes+ bridge Draw circle Nursery Rhymes
4yr	Stairs of 6 cubes Draw Cross (+) and stick man Use scissors to cut Pictures
5yr	Draw Square + triangle.

SOCIAL BEHAVIOUR.

• cup and spoon.
• Toilet training
• self-cleaning and clothing
• play with toys and friends

age
12 months	Uses cup with assistance Not toilet trained / cannot verbalize need. Find Toy hidden before eyes.
18 M	feeds self with spoon. Still wets pants but verbalize when wet Take off shoes & socks. Plays alone on floor with toys
2yr	lifts + Replace cup safely (cup + spoon) Handles spoon well, Dry by Day + verbalized toilet needs Pull down pants & Knicker
3yr	Fully toilet trained (Dry by night) Pulls up + down knicker cannot button up. wash & dries hand under supervision.
4yr	Dress + undress except shoelaces Washes hand & face +brush teeth Needs Companion Ship & other people.
5yr	Complex pretend play (see cartoons and become part of it) can play with others to achieve a common goal might also be able to work things out if another child doesn’t want to play a particular game. becoming more social and prefers to play with friends can share, although they might find it hard to share favorite toys and other things. Games with rules sometimes challenging, and child might even accuse others of cheating sometimes.

7. now perform gross motor assessment.

Gross Motor Development.

Observe and ask about 5 things

• Can walk.
• Can Run
• Can stand on one foot
• can climb Stairs
• Can Hop/ skips”

Age	Gross motor
12 months	walks with one handheld.
18 months	Walks independent Stairs & one handheld (upstairs) Throws ball.
2yr	Runs +walks well. Stairs Up+ down handheld. Kicks bail on Requests Climb up furniture.
3yr	stair up – alternate feet Stair down 2 feet/step. Can stand momentary on one foot.
4yr	Walks down + up – independent alternate feet. Stand on foot 3-5 sec.
5yr	Hops + Skips Walks on straight line. Can catch a ball.

As the examination is proceeding, it is useful to comment on each finding as it is elicited, making sure that the examiners see that you know the significance of each sign found. Terms such as ‘age appropriate’ may be useful when normal findings occur.

A succinct summary at the completion of the examination should attempt to give a developmental age to each of the areas assessed, and state whether any delay detected is global, or whether there is a scatter of abilities (e.g. gross and fine motor delay only in Werdnig–Hoffmann disease, visual and gross motor impairment in an ex-premature baby, global delay in a child with congenital rubella or severe Cerebral palsy)

Approach to child with Involuntary movements

The approach outlined here covers the following four types of involuntary movement: chorea, athetosis, dystonia and tremor. Hemiballismus, tics, myoclonus and seizure activity are mentioned briefly.

Types of involuntary movements

Involuntary movement	Description	etiology
Chorea.	This describes irregular rapid movements involving any muscle group, especially distal.	Causes include CP, Sydenham chorea, Wilson disease (WD), systemic lupus erythematosus (SLE), moyamoya disease and degenerative conditions such as AT, Huntington disease (HD), Lesch–Nyhan syndrome (LNS) and phenylketonuria (PKU). Chorea is due to pathology affecting the corpus striatum.
Athetosis	This describes slow writhing movements of proximal extremities.	It can accompany chorea, as in dyskinetic CP, WD, LNS and AT. Athetosis is due to pathology affecting the outer region of the putamen.
Dystonia.	This comprises sustained abnormal posturing, which may be brought on rapidly in ‘dystonic spasms’.	Causes include drugs (tardive dystonia), degenerative disorders such as WD, HD and post-hemiplegic.
Tremor. There are three basic types:	1. Static tremor: present at rest, disappears with action.	Causes include WD, HD and Parkinson diseases.
2. Postural tremor is most notable when the arms are outstretched in front of the body, but can occur through a range of movement.	Causes include thyrotoxicosis, phaeochromocytoma, familial tremor, physiological tremor and WD.
3. Intention tremor is marked at end points of movement, but is not present during the course of movement.	Causes include many disorders affecting the cerebellar hemispheres and pathways, including WD. Note that asterixis, or ‘flapping tremor’, is not actually a tremor, and should be differentiated from this. Causes include liver failure and hypercapnia.
Hemiballismus.	This is unilateral random gross rotatory movements of the proximal portion of a limb. Exceptionally rare in paediatrics,	it is due to pathology in the sub-thalamic region on the side opposite to the affected side.
Tics.	These are brief, separate, defined movements, usually involving the head and face, that can be voluntarily suppressed.	Causes include benign childhood tics, and the Gilles de la Tourette syndrome.
Myoclonus.	This is sudden, disorganised, irregular contraction of a muscle or muscle group (distinguished from fasciculations, which cannot cause movement of a complete muscle group).	Causes include seizure disorders (e.g. infantile spasms, benign juvenile myoclonic epilepsy), degenerative conditions (neurocutaneous syndromes, WD), structural brain anomalies (Aicardi syndrome, porencephaly), cerebrovascular accidents, anoxic brain injury, infections (SSPE) and metabolic disorders (aminoacidopathies).

WD and CP can cause choreoathetosis, tremors, dystonia, or myoclonus, so the examination needs to thoroughly evaluate these two conditions, irrespective of the type of movement disorder.

Examination

the outline given below is essentially similar, whether the problem is chorea, athetosis, dystonia, or tremor. Remember that movement disorders can coexist

1. Make A Start by introducing yourself to the patient and parent.
2. Try to gain an impression of whether there is any intellectual impairment (e.g., CP, HD, PKU) or hearing impairment (e.g., kernicterus) and note the speech (e.g., cerebellar dysarthria, palilalia with Parkinson disease).
3. Stand back and inspect for evidence of stigmata of chronic liver disease (WD), telangiectasia (AT), facial butterfly erythema (SLE), fair complexion with blond hair (PKU), mask facies (Parkinson), prominent eyes (thyrotoxicosis), evidence of self-mutilation (LNS) or spastic posturing (CP).
4. Make a point of looking at the parents (HD).
5. Describe the quality and distribution of the movements: whether they are unilateral or bilateral; involve the face, arms, trunk, or legs; are fast or slow, regular or irregular, distal or proximal.
6. A series of maneuvers can then be performed to establish more clearly which sort of movement is occurring.
7. Have the child shake hands with you and then squeeze your finger. This is to detect a ‘milkmaid grip,’ which occurs with chorea.
8. Then ask the child to hold out his or her hands, first with palms up and then with palms down. This may detect static tremors or chorea.
9. Ask the child to hold the arms outstretched to either side of the body. Then have the child try to put both index fingers to either side of the nose, as close as possible to the nose without touching. This is a sensitive test for several involuntary movements, including intention tremors.
10. Finally, have the child hold his or her wrists back in extension to exclude asterixis.
11. Have the child hold both arms up above the head. Look for the development of pronation (pronator sign) with chorea.
12. If there is any suggestion of intention tremor, check for dysdiadochokinesis.
13. Check the upper limb tone (decreased with chorea, increased with CP), power, and reflexes.
14. A rapid functional assessment (e.g., write your name, drink from a cup) may be performed at this stage to assess the degree of incapacity caused by the movement.

This stage may be clear whether the problem is (most probably) chorea or tremor. This will allow much of the following to be omitted, as it will not be relevant.

1. If the type of movement is not yet clear, a full gait examination can be performed, looking for CP, cerebellar disease, and WD or HD.
2. Take note of heel-toe walking (cerebellar disorders), squatting (thyrotoxicosis), and also have the child walk, turn quickly, stop and recommence walking (Parkinson).
3. This can be followed by a neurological lower limb evaluation for tone, power, reflexes, and cerebellar function.
4. The head may then be examined. First, measure the head circumference (decreased with CP).
5. Inspect the face for malar flush (SLE).
6. Look at the eyes for lid retraction or proptosis (thyrotoxicosis), telangiectasia (AT), Kayser-Fleischer rings (WD), nystagmus (cerebellar disease, AT), and oculomotor dyspraxia (AT).
7. Test the extraocular movements, looking for nystagmus, and check for lid lag (thyrotoxicosis). Check the ears for telangiectasia (AT);
8. test the hearing (kernicterus, CP), and if it is abnormal, perform Rinne’s and Weber’s tests.
9. Have the child poke out the tongue to detect a ‘Jack-in-the-box’ tongue, which may occur with chorea.
10. Check the neck for goiter (thyrotoxicosis).
11. Next, the cardiovascular system can be examined for evidence of rheumatic heart disease (Sydenham chorea).
12. Check the pulse for abnormal waveform (e.g., aortic incompetence) and tachycardia (thyrotoxicosis).
13. Request or take the BP (for phaeochromocytoma as the cause of tremor).
14. Palpate and auscultate the praecordium for valvular disease.
15. Examine the abdomen for prominent abdominal wall veins, hepatosplenomegaly, or ascites (WD) and look for peripheral signs of chronic liver disease.
16. If the tremor is the problem, also look for abdominal wall needle marks (diabetic hypoglycemia as the cause of tremor) and palpate for the adrenal glands (but check with the examiners that there is no contraindication to deep palpation, as palpating a phaeochromocytoma can cause an acute hypertensive crisis).
17. After the case, summarise your findings, present a differential diagnosis and discuss which investigations would be in order.

You can watch collection of videos showing abnormal movements in children here https://www.youtube.com/playlist?list=PLG7NS4kAZ8ToVsKaRmkMiWIuW8x0GcptC

ERYTHEMA (redness of skin)

Erythema (from the Greek erythros, which means “redness”) is skin or mucous membrane redness induced by hyperemia (increased blood flow) in superficial capillaries. It can occur as a result of any skin damage, infection, or inflammation. Nervous blushes are an example of erythema that is not related to any disease.

Erythema toxicium

• Rash in newborn
• Within 1^st wk. of life.
• Improves within 1-2 wks.
• Blotchy Red spots.
• Overlying firm, yellow-white bumps or pus-filled boils.
• Any where on body
• Not harmful
• No associated illness
• No Rx required.

Erythema Nodosum.
• Inflammation of fat cells under the skin.
• Tender Red Nodules / lumps.
• Seen on both shins.
• Resolve spontaneously within 30 days.
• Common in people 12-20yr of -age.
• Associated with HLA-B27
Etiology
30-50% idiopathic.
Infections,
• Streptococcal infection.
• Tuberculosis
• Mycoplasma pneumoniae
• Histoplasma
• Yersinia
• EBV.
• Leprosy
• Valley fever
• Cat- Scratch disease
Autoimmune: IBD, Bechet disease, Sarcoidosis
Medications: Sulfonamides, OCP, Penicillin., Hep B vaccine.
Malignancies: NHL, Carcinoid tumors, Pancreatic cancer.

Erythema Multiform.
• Deposition of immune complexes in Microvasculature of Skin.
• Multiforme = lesion of multiple forms
• “Target lesion” is typical manifestation.
• SJS (steven Johnson syndrome) and TEN (Toxic epidermal necrolysis) Part of multiforme spectrum.
• Itchy, Pink Red blotches
• symmetrically arranges.
• Starting from extremities.
• Target lesion appearance.
• Pink, Red around pale center.
• Resolution in 7-10 days.
Etiology
HSV
Mycoplasma
Trichomonas
Toxoplasma.
Antibiotics
Anti-convulsant
Aspirin
Allopurinol.
BCG vaccination
N. Meningitidis
Streptococci Pneumococci
Salmonella
chlamydia
Collagen disease.

Erythema Migran
• Lyme disease
• Tick associated disease / illness.
• Characteristic Bull’s eye Appearance
• Often near skin folds, Armpit/groin/ back of knee.
• Rash appear 3-32 days after bite.
• 2-3cm / day expand.
• Diameter 5-70cm.
• Circular/ oval
• Reddish Blue.
• Not itchy or tender.
• 4 wks. to resolve.
• Viral like illness.

Erythema Elevatum diutinum

Form of vasculitis para-neoplastic syndrome

Erythema gyratum.

• Round/arc shape.
• Lung Carcinoma

Erythema Marginatum

• Pink Rings on Torso and inner surface of limbs
• On extensor surfaces
• Hereditary angioedema Barely Raised /non-itchy.
• Face is spared.

Associated diseases

Rheumatic fever

Myocarditis

Allergic drug reaction

sepsis

Glomerulonephritis

Erythema Infectiosum (5^th disease)

• Parvo virus B-19.
• Slapped cheeks
• lacy Rash on body
• Remember Hydrops fetalis and sickle cell disease(when the disease occurs in pregnant women, complications such as aplastic crisis or hydrops fetalis become real concerns)

Erythema induratum

• Panniculitis on calves in women
• cutaneous T. B.
• Poor arterial supply,
• Thick subcutaneous fat,
• Temperature Change with change in External pressure.

Erythema ab-igne (EAL)

Hot water bottle Rash.

keratolytic winter Erythema

• Autosomal dominance
• redness & peeling of skin on palms and sole.

APPROACH TO A CHILD WITH INTELLECTUAL IMPAIRMENT

• The approach outlined here may be useful in assessing the etiology for clinical problems such as developmental delay or developmental regression in the long- or short-case setting.
• It is imperative to differentiate between static and progressive causes of intellectual impairment.
• Remember that those neurodegenerative conditions predominantly affecting grey matter may present with dementia and seizures, while those affecting white matters tend to have spasticity problems, cortical deafness, and blindness.

Examination

Introduce yourself to the patient and parents.

Observe the child for 30 seconds.

• Note the age and sex of the child to allow age and sex-appropriate neurodegenerative conditions to be borne in mind. (Examples include males with X-linked conditions such as fragile X, Menkes, adrenoleukodystrophy (ALD), and Hunter syndromes; infants with conditions such as tuberous sclerosis complex (TSC) and epileptic spasms; older children with disorders such as subacute sclerosing panencephalitis (SSPE), and Wilson disease (WD).
• Stand back and scan for obvious dysmorphic features (e.g., Down syndrome, mucopolysaccharidoses), neurocutaneous stigmata (e.g., cutaneous findings of TSC, ataxia-telangiectasia [AT], Sturge-Weber syndrome [SWS], incontinentia pigmenti [IP]), and other skin abnormalities such as thick skin with the mucopolysaccharidoses (MPSs).
• Note any abnormal posturing, such as spastic quadriparesis with CP, late stages of white matter degenerations; hypotonic posturing in infants with atonic CP, Down syndrome, and various degenerative conditions
• Note any involuntary movements, such as extrapyramidal movements (CP, WD), static tremor (WD), intention tremor (WD, Friedreich), myoclonic jerks (SSPE), or seizure activity (CP, TSC, peroxisomal disorders [e.g., Zellweger], degenerative grey matter disorders [gangliosidoses], some white matter diseases such as ALD).
• Note the growth parameters, particularly the head circumference. This may be large with several inherited neurodegenerative disorders (Gaucher, mucopolysaccharidoses [MPSs]) or hydrocephalus or chronic subdural effusion. On the other hand, head circumference may be small with several syndromal diagnoses (Cornelia de Lange, Seckel), intrauterine infections (TORCH), or autosomal recessive microcephaly.

Now start a physical examination of the child

• Measure the head circumference yourself and request progressive percentile measurements. Height is infrequently a useful guide, as most of the disorders can be associated with short stature (genetic disorders, hypothyroidism, fetal alcohol spectrum disorder [FASD], TORCH). In addition, marked obesity can indicate Prader–Willi syndrome (P–WS), hypothyroidism, or pseudohypoparathyroidism.
• Request the progressive percentiles of these parameters.
• After measuring it, inspect the head carefully for scars and shunts, and palpate for fontanelle and suture patency in infants’ shunts or bony defects (e.g., repaired encephalocele). Transillumination may be worth mentioning (for hydrocephalus, hydranencephaly, subdural effusion, or porencephaly),
• Feel the hair in male infants (in Menkes kinky hair syndrome, it feels like steel wool). Then, assess the face from a dysmorphic perspective.
• Note the size and position of the ears, and then make a detailed evaluation of the eyes, looking at external features (e.g., epicanthic folds [Down], corneal clouding [MPSs, congenital rubella]), function (e.g., blindness, squint)
• After this, the hearing should be tested (e.g., impairment with intrauterine CMV, kernicterus, MPSs).
• Ophthalmological findings (e.g., cataracts, optic atrophy, cherry red spot [gangliosidosis]).
• Assess the nose, mouth, chin, neck, and hairline for dysmorphic findings.
• Also, examine the neck for goiter (hypothyroidism).
• Next, a neurological assessment can be performed. Depending on the ability of the patient, this may be commenced with a full gait examination, including checking the back for scoliosis (e.g., CP, Friedreich ataxia [FRDA], AT), kyphosis (MPSs), and gibbus (GM1 gangliosidosis), or with a gross motor developmental assessment.
• Assess whether the patient has muscle weakness. This includes a comment on any facial myopathy and muscle bulk. Then, in the cooperative child, ask them to rise from the floor, assessing for Gowers’ maneuver. Certain congenital muscular dystrophies, myotonic dystrophy, and DMD are associated with intellectual disability.
• This starts the examination of the lower and upper limbs, both for dysmorphic features and neurologically, especially for tone (e.g., hypertonia with CP, PKU, Gaucher; hypotonia with hypotonic CP, Down, PWS) and reflexes (e.g., hyperreflexia with CP; hyporeflexia with metachromatic leucodystrophy [MLD] which causes peripheral neuropathy).
• The abdomen can then be examined for hepatosplenomegaly (intrauterine TORCH infection, Gaucher, Niemann-Pick, Hurler, GSDs) and the genitalia for dysmorphic features (various malformation syndromes) or large testes in the post-pubertal male (fragile X).
• Next, the chest is examined for dysmorphic features and the precordium for any evidence of cardiomegaly (e.g., MPSs) or congenital valvular heart disease (e.g., 22q11.2 deletion [CATCH-22], Down, Noonan, other malformation syndromes).

Congenital myopathies

When an infant has myopathy, he or she is typically described as being “floppy,” having difficulties breathing or eating and being slower to reach developmental milestones such as turning over or sitting up than other babies his or her age.

Congenital Muscular Dystrophies

• Congenital muscular dystrophies are a heterogeneous group of conditions that result from disruption of the structural connection between the contractile elements of the muscle cell (the actin – myosin fi laments) and extracellular matrix.
• These connections are crucial for transducing the contractile force of actin – myosin filaments to the surrounding connective tissue.
• Loss of this transduction results in muscle weakness, disruption of related elements of the muscle cell, and progressive deterioration of the muscle fiber.
• CMDs should be considered multi- organ system diseases and often present with significant central nervous system (CNS) involvement.

Patients with primary merosin deficiency are usually symptomatic at birth with generalized hypotonia, weak cry, respiratory insufficiency, seizures, and sometimes multiple congenital joint contractures (arthrogryposis )

Walker– Warburg Syndrome and the less severe MEB disease typically present at birth with hypotonia, lissencephaly, hydrocephalus, cerebellar and retinal dysplasia, arthrogryposis, respiratory insufficiency, and sometimes cleft lip and palate. Patients with WWS rarely live beyond one year .

Fukuyama CMD presents with hypotonia and respiratory insufficiency in early infancy along with cerebral and cerebellar dysplasia, hydrocephalus, and seizures. Cardiomyopathy occurs in patients that survive into the second decade of life.

The final common form of CMD is myotonic dystrophy type 1 (DM1), which results from an unstable trinucleotide expansion in the DMPK gene on chromosome 19. Its autosomal dominant. Prenatal findings often include polyhydramnios and decreased fetal movements. Postnatally, hypotonia and immobility are apparent, as are clubfoot deformities and arthrogryposis. Weakness in the head and neck results in a weak cry, impaired swallowing, and a characteristic triangular open mouth. Respiratory muscle weakness is common and mechanical ventilation is often required for the first weeks of life. Cardiovascular problems are not common in the newborn period, but cardiomyopathy and pulmonary hypertension have been reported. In most cases the mother is unaware of being affected, but detailed examination reveals mild facial weakness and grip myotonia.

Muscular dystrophies associated with older pediatric patients have also been reported in patients younger than one year of age. In particular, limb-girdle muscular dystrophy and Emery– Dreifuss muscular dystrophy have been described in the newborn period, presenting with reduced fetal movements and severe hypotonia at birth.

 Congenital Myopathies

 Congenital myopathies are primary muscle disorders that are typically nonprogressive and characterized by “non-dystrophic” changes on muscle biopsy, i.e., no degeneration of the muscle. Traditionally, CMs are classified by histopathologic staining patterns.

The current classification of congenital myopathy includes separate forms, each with its own set of symptoms, consequences, therapeutic choices, and long-term prognosis.

As such, the congenital myopathies can be divided into 6 pathologic categories.

• nemaline myopathy (subtypes: rod, core-rod, cap and zebra body myopathy).
• core myopathy (subtypes: central core and multi-minicore myopathy).
• centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy).
• congenital fiber-type disproportion myopathy.
• myosin storage myopathy; and
• nonspecific myopathic changes

Nemaline Myopathies first took their name from the threadlike structures seen on muscle biopsy specimens. Two forms are seen when the disease presents in the newborn period: classical and severe. In the classical form, infants show generalized weakness involving facial and axial muscles as well as bulbar and feeding difficulties often requiring frequent suctioning and tube feeding. The severe phenotype is characterized by a history of polyhydramnios, severe weakness, arthrogryposis, severe feeding difficulties, and respiratory failure. Serum CPK levels are normal or mildly elevated. No susceptibility to MH is documented in nemaline myopathies. However, as is the case with all myopathies, depolarizing muscle relaxants should be avoided due to the potential for hyperkalemia.

Central core disease (CCD) is one of the most common CMs. With histochemical staining, distinct cores of absent oxidative activity are seen running the length of Type 1 muscle fibers. There is a wide variation in the clinical presentation of CCD, and while weakness may become clinically apparent for most affected individuals during infancy and early childhood, contractures are frequently present at birth (hip dislocation, equinovarus foot deformities). For most patients, there is no bulbar or diaphragmatic weakness. Severely affected patients, however, may present in the neonatal period with scoliosis, arthrogryposis, and facial, bulbar, and respiratory insufficiency. Serum CK levels are normal or mildly elevated. Central core disease is usually inherited in an autosomal dominant fashion and is associated with at least 22 different mutations in the skeletal muscle ryanodine receptor.

Multiminicore Disease (MmD) is a rare autosomal recessively inherited CM. In contrast to CCD, the cores are multiple and indistinct and do not extend the length of the muscle fiber. Four clinical phenotypes have been described: a classical form with predominantly axial muscle weakness progressing to scoliosis; a moderate form with generalized muscle weakness affecting the pelvic girdle and hand involvement; a classical form with external ophthalmoplegia. and an antenatal onset form with arthrogryposis.  Malignant hyperthermia has been reported only in MmD with RyR1 mutations, unlike with the other forms of MmD; nonetheless, some authors have advised caution in using volatile anesthetics in all patients with the disease.

Histochemical staining in centronuclear (myotubular) myopathy demonstrates a characteristic pattern of numerous centrally placed nuclei with a surrounding zone of absent oxidative enzyme activity. Like other CMs, there is a high degree of variability in clinical phenotype. The most severe neonatal form follows an X- linked mode of inheritance and presents with marked hypotonia, respiratory failure, dysphagia and undescended testes, whereas the autosomal recessive forms are more variable.

Diagnosis

The diagnostic procedure is based on.

• clinical features,
• determination of serum concentrations of CK,
• EMG patterns,
• muscle biopsy findings.
• Examination of the muscle biopsy is by standard histochemical staining methods and, in some cases, immuno-histochemical protein studies.
• Electron microscopy may be required for the confirmation of the presence of some of the specific abnormalities, such as accumulations of protein aggregates in actin myopathy or nemaline bodies if these are few and small.
• Mutation identification is becoming the gold standard for verifying the diagnosis in the congenital myopathies.
• magnetic resonance imaging/computer tomography (MRI/CT) in differentiating between the various congenital myopathies, especially in histologically equivocal cases.