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International Journal of Pediatrics، جلد ۶، شماره ۷، صفحات ۷۹۹۹-۸۰۰۲
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report |
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| چکیده انگلیسی 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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| کلیدواژه‌های انگلیسی مقاله |
GTCS, Genetic, MSUD, Seizures, Quadriplegia |
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| نویسندگان مقاله |
| 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.
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| نشانی اینترنتی |
http://ijp.mums.ac.ir/article_10727.html |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/317/article-317-586619.pdf |
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| زبان مقاله منتشر شده |
en |
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