Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI.
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.
de Laveaucoupet
Jocelyne
J
Department of Radiology, Hospital Antoine Béclère, 92140 Clamart, France. joycelyne.de-laveaucoupet@abc.ap-hop-paris.fr
Roffi
Fabio
F
Audibert
François
F
Guis
Françoise
F
Lacroix
Catherine
C
Villeneuve
Nathalie
N
Landrieu
Pierre
P
Labrune
Philippe
P
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology; D003241:Consanguinity; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014057:Tomography, X-Ray Computed