TY - JOUR
T1 - Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome
AU - Morava, Eva
AU - Rodenburg, Richard
AU - Hol, Frans
AU - De Meirleir, Linda
AU - Seneca, Sara
AU - Busch, Rebekka
AU - Van Den Heuvel, Lambert
AU - Smeitink, Jan
PY - 2006/4/1
Y1 - 2006/4/1
N2 - 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.
AB - 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.
KW - Entropium
KW - Full supraorbital region
KW - Mitochondrial dysfunction
KW - Optic atrophy
KW - Spastic diplegia
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U2 - 10.1002/ajmg.a.31117
DO - 10.1002/ajmg.a.31117
M3 - Article
C2 - 16477654
AN - SCOPUS:33646934191
SN - 1552-4825
VL - 140 A
SP - 752
EP - 756
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -