Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

Eva Morava, Richard Rodenburg, Frans Hol, Linda De Meirleir, Sara Seneca, Rebekka Busch, Lambert Van Den Heuvel, Jan Smeitink

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Brooks, Wisniewski, and Brown described a familial presentation of severe developmental retardation, speech delay, static encephalopathy with atrophic hydrocephalus, microcephaly, progressive spastic diplegia, a characteristic facial appearance, optic atrophy, and growth retardation associated with hypoplastic corpus callosum in one of the patients. The authors postulated a distinct X-linked mental retardation syndrome. Later on a similar phenotype was observed in three male siblings with an early lethal outcome. Here we describe three patients with several overlapping features and a progressive neurological picture presenting with a significantly compromised mitochondrial oxidative phosphorylation measured in a fresh muscle biopsy. Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome.

Original languageEnglish (US)
Pages (from-to)752-756
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume140 A
Issue number7
DOIs
StatePublished - Apr 1 2006

Keywords

  • Entropium
  • Full supraorbital region
  • Mitochondrial dysfunction
  • Optic atrophy
  • Spastic diplegia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Morava, E., Rodenburg, R., Hol, F., De Meirleir, L., Seneca, S., Busch, R., Van Den Heuvel, L., & Smeitink, J. (2006). Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. American Journal of Medical Genetics, Part A, 140 A(7), 752-756. https://doi.org/10.1002/ajmg.a.31117