Rag doll : a case report on spinal muscular atrophy

Publication Date

2016

Document Type

Research

Abstract

This report aims to present a case on infantile hypotonia and discuss a thorough investigation on a symptom that could represent a series of minor and major illnesses. Patient L.Y. was admitted because of persistent hypotonia with poor suck, Patient was born term to a 24 ye/o G2P2 (2002) via VSD with no apparent complications. Near term, mother noted decrease in fetal movement, however, on repeat UTZ, results was unremarkable. Upon admission, patient was being treated with antibiotics as suspected meningitis was entertained. Nevertheless, hypotonia became a consistent dilemma in the case. Other differentials and work ups were requested and referral to a neurologist and geneticist was sought. Each differential and work up was discussed to come up with the final diagnosis of spinal muscular atrophy.

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