ICNC Abstracts, ICNC 2018

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A RARE CAUSE OF STRIDOR & RECURRENT CENTRAL APNEA: MAPLE SYRUP URINE DISEASE
RAVI SHARMA, SAKSHI SHARMA, VIVEK JAIN, LALIT BHARADIA

Last modified: 2018-09-09

Abstract


Introduction : Maple syrup urine disease is a autosomal recessive disorder caused by abnormal oxidative decarboxylation of branch chain amino acids[1]. MSUD is classified into five clinical phenotypes, classic type is most common & severe  which presents as poor feeding, dystonia, vomitings and seizures. If not treated earlier, they progress to raised intracranial pressure and death. Case report: 40 day old male ,1st product of non consagnious marriage was admitted with suspected GERD ,stridor & apnea. He had dysmorphism, dystonia ,stridor,apnea with  oral secretions. GERD  evaluation was negative. ENT evaluation for  stridor was normal. Relevant investigation showed septic screen, serum electrolytes, blood gas, blood sugar, lactate normal. Arterial ammonia was mild elevated & urine ketones were present.MRI brain done which showed diffusion restriction in  brainstem & cerebellum. It was confirmed by Tandem mass spectrometry. Child was started on specific diet ,carnitine & thiamine. Patient  showed clinical improvement on MSUD diet. Discussion: The severity of the symptoms in the neonates presenting with the features MSUD is related to the duration of acute toxic phase.The MRI reveal typical signs in the form of localized edema in brainstem, cerebellar whitematter. Conclusion: We suggest apnea & stridor can be rare manifestation. DWI is valuable early diagnostic tool. Bibliography[1]. Toxic and Metabolic Brain Disorders.chapter 3,4th edition,A.James Barkovich Pediatric Neuroimaging. Lipincott Williams and Wilkins;p 90. [2]. Aditi Jain, K. Jagdeesh, Ranoji Mane, and Saurabh Singla Imaging in Classic Form of Maple Syrup UrineDisease:A Rare Metabolic Central Nervous System J Clin Neonatol. 2013 Apr-Jun; 2(2): 98–100.


Keywords


MSUD; stridor,central apnea,MRI DWI brain stem,cerebellum

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