Asunto(s)
Levodopa , Mutación , Trastornos Parkinsonianos , Proteína Fosfatasa 2 , Humanos , Trastornos Parkinsonianos/genética , Trastornos Parkinsonianos/tratamiento farmacológico , Proteína Fosfatasa 2/genética , Masculino , Femenino , Adulto , Antiparkinsonianos/uso terapéutico , Monoéster Fosfórico HidrolasasAsunto(s)
Encefalitis Antirreceptor N-Metil-D-Aspartato/complicaciones , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico por imagen , Ataxia Cerebelosa/diagnóstico por imagen , Ataxia Cerebelosa/etiología , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Encefalitis Antirreceptor N-Metil-D-Aspartato/tratamiento farmacológico , Ataxia Cerebelosa/tratamiento farmacológico , Diagnóstico Diferencial , Glucocorticoides/administración & dosificación , Humanos , Masculino , Metilprednisolona/administración & dosificación , Persona de Mediana Edad , Accidente Cerebrovascular/tratamiento farmacológicoRESUMEN
MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in MTHFR gene which was likely pathogenic variant. Respiratory chain complex assay from muscle sample showed reduced complex 1 deficiency (<20%).