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Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI
Author(s) -
de Laveaucoupet Jocelyne,
Roffi Fabio,
Audibert François,
Guis Françoise,
Lacroix Catherine,
Villeneuve Nathalie,
Landrieu Pierre,
Labrune Philippe
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1128
Subject(s) - microcephaly , medicine , atrophy , degeneration (medical) , cerebral atrophy , pathology , encephalopathy , epilepsy , magnetic resonance imaging , prenatal diagnosis , pregnancy , fetus , pediatrics , sibling , radiology , psychology , biology , psychiatry , developmental psychology , genetics
We report two cases in the same family of progressive neuronal degeneration of childhood—Alpers syndrome—with prenatal MRI findings in one case. The first infant presented at birth with severe microcephaly, then rapidly evolved to progressive encephalopathy with refractory epilepsy, leading to death at 10 months. Biochemical investigations including liver function tests were normal. CT and MRI showed severe diffuse brain atrophy. The diagnosis of progressive neuronal degeneration of childhood was made on the clinical and imaging data. The second pregnancy was marked by gradual decrease of fetal cerebral biometry and a prenatal MRI performed at 32 weeks showed diffuse cortical atrophy, as observed in the sibling. The infant died at 5 months. Neuropathological findings were consistent with Alpers syndrome. Copyright © 2005 John Wiley & Sons, Ltd.