ICNC Abstracts, ICNC 2018

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Case of two brothers with Cerebrotendinous Xanthomatosis presenting with Progressive Myoclonic Epilepsy
Karan Desai, Sangeeta Ravat, Viraj Sanghi, Piyush Kumar, Priyanka Walzade, Neeraj Jain

Last modified: 2018-09-09


Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the CYP27A1 gene located on chromosome 2q33-qter, leading to increased deposition of cholesterol and cholestanol in multiple tissues. It presents diverse manifestations with multi-organ involvement and a broad range of neurological and non-neurological symptoms. Here we present the case of young boy who had drug refractory myoclonic epilepsy with mild cerebellar ataxia, dystonia and cognitive impairment where EEG findings were discordant with clinical seizure phenotype and ultimately diagnosis was reached when we discovered achilles tendon xanthomas in his younger sibling who had a relatively milder spectrum of epilepsy. We mean to stress on the need for casting the net wide to look potentially treatable neurometabolic causes in all cases of syndromic refractory epilepsies presenting as PME. We also highlight importance of genetic testing to reach a conclusive diagnosis specially in a resource limited setting like ours before writing off the patient with such a sinister diagnosis.


Cerebrotendinous Xanthomatosis ; Epileptic Encephalopathy

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