RESUMEN
We report a case of hydrocephalus due to posterior cranial fossa subdural effusion. The patient was a 4-year-old boy, presenting headache and nausea, with a medical history of viral meningitis 2 months before. Cerebrospinal fluid provided no evidence of infection, and symptoms caused by increased intracranial pressure gradually deteriorated, although glycerol infusion was effective temporarily. Computed tomography revealed marked ventriculomegaly with subdural effusion in the right posterior cranial fossa. The subarachnoid space in the posterior fossa was very tight, and the cerebellum and brain stem were compressed anteriorly. Magnetic resonance imaging demonstrated stenosis of the aqueduct and foramens of Luschka and Magendie. The cerebeller tonsil was dislocated inferiorly, indicating impending herniation, so an emergency operation was performed. Ventriculoperitoneal shunt was undertaken after implantation of an Ommaya reservoir for the posterior fossa subdural effusion. The patient's postoperative course was uneventful, and the symptoms were improved. Although hydrocephalus and subdural effusion following viral meningitis is rare, neuroimaging studies such as CT and MRI should be examined when a young child suffers from symptoms of increased intracranial pressure.
Asunto(s)
Fosa Craneal Posterior , Hidrocefalia/cirugía , Efusión Subdural/cirugía , Catéteres de Permanencia , Preescolar , Urgencias Médicas , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiología , Imagen por Resonancia Magnética , Masculino , Meningitis Viral/complicaciones , Efusión Subdural/diagnóstico , Efusión Subdural/etiología , Tomografía Computarizada por Rayos X , Resultado del Tratamiento , Derivación VentriculoperitonealAsunto(s)
Adenosina Trifosfatasas/genética , Degeneración Hepatolenticular/diagnóstico , Degeneración Hepatolenticular/genética , Mutación , Adolescente , Secuencia de Bases , Análisis Mutacional de ADN , Pruebas Genéticas/métodos , Humanos , Masculino , Datos de Secuencia Molecular , Linaje , Reacción en Cadena de la Polimerasa/métodos , Pronóstico , Índice de Severidad de la Enfermedad , Factores de TiempoRESUMEN
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is clinically classified into severe, intermediate, and myopathic forms. We identified mutations in three unrelated Japanese patients with VLCAD deficiency: two with the myopathic form and one with the intermediate form, all compound heterozygotes of K264E/M437V, A416T/1798delA, and P89S/IVS16-3delAA, respectively. We characterized four missense mutations, K264E, M437V, A416T, and P89S, by transisent expression analysis, using SV40-transformed fibroblasts derived from a VLCAD-null patient, as recipient cells. In transient expression of the wild-type VLCAD cDNA, VLCAD activity at 30 degrees C was higher than at 37 degrees C. Moreover, this temperature-sensitive character is more evident in all the mutant proteins tested than in wild type. Based on characterization of the five missense mutations identified in four Japanese patients, including data on one patient with the myopathic form previously reported, patients with the nonsevere forms (intermediate or myopathic forms) have missense mutations with residual activities in at least one allele. Expression analysis at 30 degrees C may be more useful for evaluating these missense mutations, compared with that at 37 degrees C.