Give the most probable diagnosis of a 1 yr. 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 ?
Ans. is d i.e., i.e., 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 (i.e. suppoing the infant with a hand under the chest) keeps his back straight and head slightly up, arms abducted and knees paly flexed. A floppy infant droops, over the hand like an inveed U. o 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 1. Central nervous system Perinatal asphyxia, neonatal encephalopathy, kernicterus, cerebral palsy (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 function 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 (Pompe's), and ahrogryposis multiplex congenita 6. 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. o Out of the four option given in the question three of these can cause FIS - o Downs syndrome G.B. 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 offever or viral infections. Majority of patients recover within few days to 2 weeks.
Guillian Barre Syndrome
Limb girdle atrophy
Down's syndrome
Spinal muscular atrophy