Congenital ceroid-lipofuscinosis.
A term infant, observed at birth to be microcephalic, developed status epilepticus and died 36 hours later. At autopsy a markedly atrophic brain was found which, by microscopic examination, demonstrated changes consistent with neuronal ceroid-lipofuscinosis. Cerebral lipidosis with microcephaly presenting at birth is extremely rare. Congenital neuronal ceroid-lipofuscinosis is an atypical form of ceroid-lipofuscinosis and should be considered in the differential diagnosis of the microcephalic neonate with seizures.
Barohn
R J
RJ
Department of Medicine, University of Texas Health Science Center, San Antonio 78284-7883.
Dowd
D C
DC
Kagan-Hallet
K S
KS
D001253:Astrocytes / Q000473:pathology; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D003937:Diagnosis, Differential; D005911:Gliosis / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D050356:Lipid Metabolism; D008062:Lipofuscin / Q000378:metabolism; D008264:Macrophages / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D009460:Neurologic Examination; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000473:pathology*; D009474:Neurons / Q000473:pathology; D013036:Spasms, Infantile / Q000473:pathology
D008062:Lipofuscin