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

E. Bertini, R. Cusmai, G. De Saint Basile, F. Le Deist, M. Di Capua, D. R. Gaggero, C. Dionisi-Vici, C. Santillo, M. Caniglia

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)443-451
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
Publication statusPublished - 1992

Fingerprint

Myoclonic Epilepsy
Muscle Hypotonia
Macular Degeneration
Ataxia
Septum Pellucidum
Mothers
T-Lymphocytes
Bronchopneumonia
Somatosensory Evoked Potentials
Visual Evoked Potentials
Brain Stem Auditory Evoked Potentials
Corpus Callosum
Neural Conduction
Metabolic Diseases
Pedigree
Infection
Neuroimaging
Atrophy
Cysts
Immunoglobulins

Keywords

  • congenital X-linked ataxia
  • macular degeneration
  • myclonic encephalopathy
  • recurrent bronchopulmonary infections

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections. / Bertini, E.; Cusmai, R.; De Saint Basile, G.; Le Deist, F.; Di Capua, M.; Gaggero, D. R.; Dionisi-Vici, C.; Santillo, C.; Caniglia, M.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 1992, p. 443-451.

Research output: Contribution to journalArticle

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