Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
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.
Morava
Eva
E
Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
Rodenburg
Richard
R
Hol
Frans
F
De Meirleir
Linda
L
Seneca
Sara
S
Busch
Rebekka
R
van den Heuvel
Lambert
L
Smeitink
Jan
J
D000015:Abnormalities, Multiple / Q000378:metabolism / Q000473:pathology*; D000255:Adenosine Triphosphate / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology*; D005124:Eye Abnormalities; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology / Q000378:metabolism*; D009123:Muscle Hypotonia / Q000473:pathology*; D010085:Oxidative Phosphorylation; D035781:Siblings; D013577:Syndrome
D000255:Adenosine Triphosphate