Sulfite oxidase deficiency: a clinicopathological and molecular study of one case

Alex Michotte, Danielle Hasaerts, Sara Seneca, Willy Lissens, Linda De Meirleir

Onderzoeksoutput: Meeting abstract (Journal)

Samenvatting

We report a girl who presented soon after birth with apnoeas, feeding
difficulties, hypotonia and uncontrollable seizures. Urinary levels
of S-sulfocysteine and thiosulfate were increased, those of xanthine
and hypoxanthine were normal. Sulfite oxidase activity was
undetectable in cultured fibroblasts confirming the diagnosis of an
isolated sulfite oxidase deficiency. Automatic sequencing analysis of
cDNA from fibroblast mRNA identified a homozygous G to A
point mutation at position 913, resulting in a glycine to serine amino
acid substitution (G305S). At the age of 2 years she was severely
mentally retarded and fed by gastrointestinal tube. No lens subluxation
was found. She died at the age of 5 years. Gross examination
of the brain showed marked microcephaly, focal cortical atrophy,
white matter atrophy with several periventricular cystic lesions and
moderate ventricular dilatation. Microscopical examination revealed
focal area of necroses most pronounced in sulcal depths and in the
striatum and cystic periventricular necroses resembling the lesions
following perinatal asphyxia. Neuropathological findings in this patient
although not characteristic for sulfite oxidase deficiency, are
very similar to the few cases reported in the literature. Biochemical
and molecular diagnosis of this enzymatic deficiency is important
because it may allow prenatal diagnosis in a following pregnancy.
Originele taal-2English
Pagina's (van-tot)560-560
Aantal pagina's1
TijdschriftActa Neuropathologica
Volume104
StatusPublished - 2003
EvenementUnknown - Stockholm, Sweden
Duur: 21 sep 200925 sep 2009

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