ICNC Abstracts, ICNC 2018

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All that glitters is not gold: A lesson to learn.
abhijeet vilas botre

Last modified: 2018-09-09


Introduction: Metabolic disorders can present in several ways like failure to thrive, seizures & developmental delay /regression etc. Very few of them are treatable and can have normal outcome without morbidity. Cerebral Creatine Deficiency Disorders (CCDD) presents in peculiar way and if diagnosed and treated on time can lead to normal outcome.Case report: 2 months boy born of consanguineous marriage .Presented with history of failure to thrive, acute diarrheal illness, encephalopathy and seizures.  Examination: dystonic posturing and brisk DTRs. CSF: normal CSF lactate very high.MRI: Bilateral basal ganglia lesions so provisionally labeled as Leigh’s disease .Genetic panel: homozygous mutation in GAMT gene .MRS s/o no creatine peak at cerebral tissues. Patient doing better on creatine and ornithine supplements Discussion: CCDDs mainly presents as intractable epilepsy and developmental delay, autism & sometimes as movement disorder. It’s difficult to diagnoses unless MRS or specific investigations are planned. The GAMT variant will present with MRI features (B/L BG changes) while others may present as normal MRI. This case is the youngest case without significant developmental delay and epilepsy, so better outcome can be expected. Conclusion: CCDD are one of the treatable IEMS if diagnosed appropriately and treated adequately. The atypical manifestation of same should be kept in mind. Patients with developmental concerns and intractable epilepsy should always be screened with MRS (which is an easy and effective tool) to rule out this treatable condition.

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