Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form.
An infant female had connatal Pelizaeus-Merzbacher disease with neonatal onset of developmental failure, seizures, nystagmus, visual impairment, abnormal movements, and spasticity. There was nearly complete absence of central myelin with preservation of peripheral myelin. The 17 reported patients with connatal Pelizaeus-Merzbacher disease are summarized. Evidence of autosomal recessive inheritance is provided by our patient, 3 previously described girls, and 1 family with both boys and girls affected equally. This possible form of inheritance is important to consider in genetic counseling.
D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008854:Microscopy, Electron; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D014057:Tomography, X-Ray Computed