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Case Reports
. 1992 Jan-Feb;8(1):54-9.
doi: 10.1016/0887-8994(92)90054-3.

Congenital ceroid-lipofuscinosis

R J Barohn  1 , D C Dowd, K S Kagan-Hallet
Affiliations
Case Reports

Congenital ceroid-lipofuscinosis

R J Barohn et al. Pediatr Neurol. 1992 Jan-Feb.

Abstract

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.

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Comment in

  • Congenital ceroid-lipofuscinosis.
    Wisniewski KE, Kida E. Wisniewski KE, et al. Pediatr Neurol. 1992 Jul-Aug;8(4):315. doi: 10.1016/0887-8994(92)90375-9. Pediatr Neurol. 1992. PMID: 1388426 No abstract available.

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