Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

Am J Med Genet. 1992;43(1-2):443-51. doi: 10.1002/ajmg.1320430167.


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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / complications
  • Brain Diseases / genetics*
  • Bronchopneumonia / complications
  • Bronchopneumonia / genetics
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / congenital
  • Cerebellar Ataxia / genetics*
  • Child
  • Genetic Linkage
  • Humans
  • Macular Degeneration / complications
  • Macular Degeneration / genetics*
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / genetics
  • Muscle Spasticity / complications
  • Muscle Spasticity / genetics*
  • Pedigree
  • X Chromosome