Give the most probable diagnosis of a 1 year. old child of normal intelligence with features of hypotonia. On examination, there are tongue fasciculations and he keeps his body in a frog-like position –
Correct Answer: Spinal muscular atrophy
Description: Features of hypotonic and frog-like position suggest the diagnosis of Floppy infant syndrome.
Floppy infant syndrome
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 (i.e. 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 U.
Typical features
Hypotonia and decreased muscular activity
Frog-like posture or other unusual position at rest
Delay in motor milestones
Causes of Floppy infant syndrome
Central nervous system
Perinatal asphyxia, neonatal encephalopathy, kernicterus, cerebral palsy (atonic type), intracranial haemorrhage, chromosomal anomalies including Down syndrome and inborn errors of metabolism e.g., aminoacidurias, mucopolysaccharidosis, and cerebral lipidosis.
Spinal cord lesions
Anterior horn cell disease: Werdnig Hoffman spinal muscular atrophy, poliomyelitis
Peripheral nerves
Acute polyneuropathy, familial dysautonomia, congenital sensory neuropathy
Myoneural junction
Neonatal myasthenia gravis, infantile botulism, following antibiotic therapy
Muscles
Muscular dystrophies, congenital myotonic dystrophies, congenital myopathies (including central core disease and Nemaline myopathy), polymyositis, glycogen storage disease (Pompe's), and arthrogryposis multiplex congenital
Miscellaneous
Protein-energy malnutrition, rickets, Prader-Willi syndrome, malabsorption syndromes, Ehler-Danlos syndrome, cutis laxa, cretinism
Coming back to question
There are many causes of floppy infant syndrome.
Out of the four option given in the question three of these can cause FIS -
Down’s syndrome
GB. syndrome
Spinal muscular atrophy
Spinal muscular atrophy
Features of normal intelligence and tongue fasciculation's strongly suggested spinal muscular atrophy.
Down's syndrome
Can be easily ruled out as intelligence is impaired in Down's syndrome.
GB. syndrome
Can be ruled out as it presents as an acute case with a past history of fever or viral infections.
Majority of patients recover within a few days to 2 weeks.
Category:
Pediatrics
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