title: [Menkes' disease: anatomo-clinical presentation of a case].
abstract: We describe a case of Menke's disease with severe neurological involvement, convulsive crises and characteristic hair anomalies (scanty, fragile, macroscopically hypopigmented and microscopically kinked) which led to rapid diagnosis. Vascular abnormalities with elongated, twisted arteries, skeletal abnormalities (more wormian cranial bones than usual, lateral spurs of metaphyses) and vesicle diverticuli. Electron microscopy of skeletal muscle showed concentrically laminated bodies, possibly of mitochondrial origin. Respiratory chain enzyme activity was normal. The patient died at the age of two and a half. On necropsy, histological abnormalities characteristics of the illness were seen (loss of neurones in the granular layer of the cerebellum, the neurones of Purkinje had thickening of the dendrites which spread out in the form of a weeping willow, reduplication and fragmentation of the internal elastic layer of muscle arteries). In the cortex of the cerebellum mega-mitochondria with electron-dense bodies, were seen on electron microscopy. This is the first case of Menke's disease described in the Spanish literature which includes pathology and electron microscope studies.
authors.affiliation: Servicio de Neurologia Pediátrica, Hospital La Paz, Madrid, España.
authors.forename: M A
authors.initials: MA
authors.lastname: Martínez-Granero
authors.forename: D
authors.initials: D
authors.lastname: Hardisson
authors.forename: A
authors.initials: A
authors.lastname: Martínez-Bermejo
authors.forename: C
authors.initials: C
authors.lastname: Morales
authors.forename: M
authors.initials: M
authors.lastname: Gutiérrez-Molina
authors.forename: J
authors.initials: J
authors.lastname: Arcas-Martínez
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
mesh_terms: D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000473:pathology; D008854:Microscopy, Electron; D011689:Purkinje Cells / Q000648:ultrastructure
vernacular_title: Enfermedad de Menkes: presentación anatomoclínica de un caso.