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Paediatric

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Neurology

Question
75 out of 92
 

Give the most probable diagnosis of a 1 yr. old child normal intelligence with features of hypotonia. On exanimation there are tongue fasciculations and he keeps his body in a frog like position – (AIIMS Nov 2014)



A Guillian Barre Syndrome

B Limb girdle atrophy

C Down's syndrome

D Spinal muscular atrophy

Ans. D

Spinal muscular atrophy

o Features of hypotonia and frog like position suggest the diagnosis of Floppy infant syndrome.

Floppy infant syndrome

o In FIS the baby is floppy i.e:

• He cannot hold his head up, there will be marked head lag as the baby is pulled up from supine to sitting posture.

• A normal infant, on ventral suspension ( supporting the infant with a hand under the chest) keeps his back straight and head slightly up, arms abducted and knees partly flexed. A floppy infant droops, over the hand like an inverted (J.

Typical features

• Hypotonia and decreased muscular activity

• Frog like posture or other unusual position at rest

• Delay in motor milestone

Causes of Floppy syndrome

1. Central nervous system

Perinatal asphyxia, neonatal encephalopathy, kernicterus, cerebral plasy (atonic type) intracranial hemorrhage, chromosomal anomalies including

Down syndrome and inborn errors of metabolism e.g. aminoacidurias, Mucopolysaccharidosis, and cerebral lipidosis.

2. Spinal cord lesions

Anterior horn cell disease: Werdnig Hoffman spinal muscular atrophy, poliomyelitis

3. Peripheral nerves

Acute polyneuropathy, familial dysautonomia, congenital sensory neuropathy

4. Myoneural junction

Neonatal myasthenia gravis, infantile botulism, following antibiotic therapy

5. Muscles

Muscular dystrophies, congenital myotonic dystrophies, congenital, myopathies (including central core disease and Nemaline myopathy), polymyositis, glycogen

Storage disease (Pomp’s), and arthrogryposis multiplex congenital

6. Miscellaneous

Protein energy malnutrition, rickets, Prader-Willi syndrome, malabsorption Syndromes, Ehler-Danlos syndrome, cutis laxa, cretinism

Coming back to question

o There are many causes of floppy infant syndrome.

o Out of the four option given in the question three of these can cause FIS -

• Downs syndrome

• GB. syndrome

• Spinal muscular atrophy

o Spinal muscular atrophy

• Features of normal intelligence and tongue fasciculations strongly suggest spinal muscular atrophy.

o Down's syndrome

• Can be easily ruled out as intelligence is impaired in Down's syndrome.

o GB. syndrome

• Can be ruled out as it presents as an acute case with a past history off ever or viral infections.

Majority of patients recover within few days to 2 weeks-

Neurology Flashcard List

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