Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report

سال انتشار: 1397
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 325

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شناسه ملی سند علمی:

JR_INJPM-6-7_014

تاریخ نمایه سازی: 18 تیر 1398

چکیده مقاله:

Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonates. However, in intermediate MSUD, seizures have a delayed and insidious onset, along with developmental    Case Report We report a case of grand mal seizures in a patient with intermediate MSUD, presenting with multiple episodes of seizure, dystonia, spastic quadriplegia, involuntary micturition and oculogyric crisis.Seizures were managed successfully with intravenous lorazepam and other supportive measures. The patient was advised to strictly adhere to branched chain amino acid restricted diet. Conclusion This case report emphasizes on the importance of medication adherence and dietary restrictions to prevent permanent psychomotor damage or death.

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نویسندگان

Gautam Satheesh

Department of Pharmacy Practice, National College of Pharmacy, Calicut, Kerala, India.

Suja Johnson

Department of Pharmacy Practice, National College of Pharmacy, Calicut, Kerala, India.

Balraj Guhan

Department of Paediatrics, KMCT Woman and Child Hospital, Calicut, Kerala, India.

Niyas Ahammed

Department of Paediatrics, KMCT Woman and Child Hospital, Calicut, Kerala, India.