Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India
| Autor: | Gouri Rao Passi, Swati Pandey, Akella Radha Rama Devi, Ramesh Konanki, Abhishek Ravindra Jain, Shweta Bhatnagar, Ruchi Tripathi, Vivek Jain |
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| Rok vydání: | 2022 |
| Předmět: |
Male
Movement Disorders Brain Diseases Metabolic Inborn India General Medicine Creatine Plasma Membrane Neurotransmitter Transport Proteins Developmental Neuroscience Neurodevelopmental Disorders Child Preschool Pediatrics Perinatology and Child Health Mental Retardation X-Linked Humans Female Guanidinoacetate N-Methyltransferase Language Development Disorders Neurology (clinical) Child Follow-Up Studies Retrospective Studies |
| Zdroj: | Brain and Development. 44:271-280 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/j.braindev.2021.12.004 |
| Popis: | Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented.This was a retrospective cohort of CCDS patients seen over six-years. Diagnosis was based either on low creatine peak on proton magnetic resonance spectroscopy (MRS) and/or genetic evaluation.Thirteen patients were eligible [8 creatine transporter deficiency (CTD), 4 guanidinoacetate methyltransferase (GAMT) deficiency and 1 could not be classified]. The mean (±SD) age at diagnosis was 7.2(±5.0) years. Clinical manifestations included intellectual disability (ID) with significant expressive speech delay in all. Most had significant behavior issues (8/13) and/or autism (8/13). All had history of convulsive seizures (11/13 had epilepsy; 2 patients only had febrile seizures) and 2/13 had movement disorder. Constipation was the commonest non-neurological manifestation (5/13 patients). Cranial MRI was normal in all CTD patients but showed globus pallidus hyperintensity in all four with GAMT deficiency. MRS performed in 11/13 patients, revealed abnormally low creatine peak. A causative genetic variant (novel mutation in nine) was identified in 12 patients. Three GAMT deficiency and one CTD patient reported neurodevelopmental improvement and good seizure control after creatine supplementation.Intellectual disability, disproportionate speech delay, autism, and epilepsy, were common in our CCDS patients. A normal structural neuroimaging with easily controlled febrile and/or afebrile seizures differentiated CTD from GAMT deficiency patients who had abnormal neuroimaging and often difficult to control epilepsy and movement disorder. |
| Databáze: | OpenAIRE |
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