title: Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.
abstract: We report on 2 boys (maternal cousins), with severe congenital ataxia with generalized hypotonia, psychomotor retardation and recurrent bronchopulmonary infections. Later, they developed myoclonic encephalopathy and macular degeneration. Serial brain imaging investigations showed a cyst of the septum pellucidum, persistence of the cavum vergae, corpus callosum and cerebellar vermis hypoplasia without cortical atrophy. In the maternal pedigree, 5 males had recurrent bronchopneumonia associated with severe congenital hypotonia and died during the first years of life. Neurophysiological studies, including nerve conduction velocities, brainstem auditory evoked responses, somatosensory evoked potentials were normal. Electroretinogram showed normal wave morphology. Visual evoked potentials were mildly impaired. Extensive screening for metabolic disease gave normal results. Immunologic investigations showed normal T and B cell number, T cell function and immunoglobulin levels in both patients with a reduced level of IgG2 subclass in one.
authors.affiliation: Department of Neuropediatrics, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: R
authors.initials: R
authors.lastname: Cusmai
authors.forename: G
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: F
authors.initials: F
authors.lastname: Le Deist
authors.forename: M
authors.initials: M
authors.lastname: Di Capua
authors.forename: D R
authors.initials: DR
authors.lastname: Gaggero
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: C
authors.initials: C
authors.lastname: Santillo
authors.forename: M
authors.initials: M
authors.lastname: Caniglia
mesh_terms: D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D001996:Bronchopneumonia / Q000150:complications / Q000235:genetics; D002524:Cerebellar Ataxia / Q000150:complications / Q000151:congenital / Q000235:genetics*; D002648:Child; D008040:Genetic Linkage; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome