Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.
Brain Dev
; 44(4): 271-280, 2022 Apr.
Article
en En
| MEDLINE
| ID: mdl-34974949
ABSTRACT
INTRODUCTION:
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. MATERIALS ANDMETHODS:
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.RESULTS:
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.CONCLUSION:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Creatina
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Encefalopatías Metabólicas Innatas
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Discapacidad Intelectual Ligada al Cromosoma X
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Guanidinoacetato N-Metiltransferasa
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Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática
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Trastornos del Neurodesarrollo
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Trastornos del Desarrollo del Lenguaje
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Trastornos del Movimiento
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Brain Dev
Año:
2022
Tipo del documento:
Article
País de afiliación:
India