Title: Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
Authors: Morava, Eva ×
Rodenburg, Richard
Hol, Frans
De Meirleir, Linda
Seneca, Sara
Busch, Rebekka
van den Heuvel, Lambertus
Smeitink, Jan #
Issue Date: Apr-2006
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:140 issue:7 pages:752-756
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.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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