RESUMEN
BACKGROUND: Huntington disease-like 2 (HDL2) is a neurodegenerative disorder, affecting only individuals of African ancestry. Full penetrance occurs in individuals with 40 repeats or more. OBJECTIVE: To describe the phenotypic variability of HDL2 in a group of mixed ancestry individuals from South Africa. METHODS: Eight patients were assessed with analysis of repeat size and magnetic resonance brain imaging. We applied the Unified Huntington's Disease Rating Scale (UHDRS), but in deceased patients (4), this was estimated from video material. RESULTS: Cognitive domains were more severely affected than motor; UHDRS motor scores were notable for bradykinesia, and to a slightly lesser extent, for rigidity and dystonia; a single patient had marked chorea. Repeat lengths ranged from 45 to 63 (median, 52). CONCLUSION: This South African group of mixed ancestry HDL2 individuals presented with severe cognitive and behavioral impairments, with lesser degrees or absence of chorea. This presentation is possibly related to large repeat sizes.
Asunto(s)
Imagen por Resonancia Magnética , Humanos , Masculino , Sudáfrica/epidemiología , Femenino , Persona de Mediana Edad , Adulto , Población Negra/genética , Enfermedad de Huntington/genética , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/etnología , Anciano , Trastornos Heredodegenerativos del Sistema Nervioso/genética , Trastornos Heredodegenerativos del Sistema Nervioso/diagnóstico , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/genética , Enfermedades Neurodegenerativas/patología , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Corea/genética , Corea/diagnóstico , Trastornos del Conocimiento , DemenciaRESUMEN
A man in his 20s presented with headache and acute deterioration in visual acuity. He was found to have panuveitis and raised intracranial pressure with papilloedema. MRI and F-fluorodeoxyglucose positron emission tomography confirmed a subclinical, but active, inflammatory mastoid process. Histology of the mastoid showed immunoglobulin G4 (IgG4) cells, plasma cells and storiform fibrosis.This presentation of IgG4 disease has not been previously described.Treatment with high-dose steroids was initiated, followed by long-term immunosuppressive therapy. The patient's symptoms improved, although he remains dependent on azathioprine and low dose oral steroids for symptom control. To date, there has been no progression of the disease.