RESUMEN
An adult male patient of Dutch ancestry has a slowly progressive neurological disease characterised by a cerebellar syndrome, distal spinal muscular atrophy, pyramidal tract dysfunction, and perceptive hearing loss. A severe folate deficiency state was found in CSF in combination with a normal serum and red cell folate state. Two unknown abnormal metabolites were present in CSF. The concentration of immunoreactive folate binding protein in CSF was unusually low, whereas the concentration of the protein measured with radioligand (3H-folate) binding was unusually high. The transfer of folate over the choroid plexus seems to be disturbed, potentially reflecting a defect in the choroid plexus folate binder.
Asunto(s)
Proteínas Portadoras/líquido cefalorraquídeo , Sistema Nervioso Central/metabolismo , Deficiencia de Ácido Fólico/líquido cefalorraquídeo , Ácido Fólico/metabolismo , Enfermedades del Sistema Nervioso/líquido cefalorraquídeo , Receptores de Superficie Celular , Adolescente , Receptores de Folato Anclados a GPI , Deficiencia de Ácido Fólico/metabolismo , Humanos , Masculino , Vitamina B 12/líquido cefalorraquídeoRESUMEN
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.
Asunto(s)
Encefalopatías Metabólicas/genética , Xantogranuloma Juvenil/genética , Tendón Calcáneo/patología , Adulto , Encefalopatías Metabólicas/diagnóstico , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Diagnóstico Diferencial , Femenino , Genes Recesivos/genética , Humanos , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/diagnóstico , Trastornos Neurocognitivos/genética , Examen Neurológico , Reflejo de Estiramiento/genética , Xantogranuloma Juvenil/diagnósticoRESUMEN
We present two unrelated MELAS patients, and compare them with 24 patients derived from the literature. In most patients the stroke-like features of the MELAS syndrome occur late in the course of the disease. The diagnosis is based on characteristic clinical symptoms, presence of lactic acidemia, mitochondriopathy in muscle, and low density lesions on cerebral CT, most frequently occurring in the posterior and parieto-temporal regions. In some cases, a metabolic defect could not be demonstrated, in other cases a partial deficiency of various respiratory chain enzymes was found.
