Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy

Callum J. Wilson, Claudio Priore Oliva, Franco Maggi, Alberico L. Catapano, Sebastiano Calandra

Research output: Contribution to journalArticle

Abstract

An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. Apolipoprotein C-II, the lipoprotein on chylomicrons responsible for the activation of lipoprotein lipase, was not detectable in blood. Analysis of the APO C-II gene revealed a novel homozygous point mutation, 1118C→A. Subsequently, another sibling has been born with the same homozygous mutation and similar biochemistry but, perhaps because of early treatment, a normal neurological outcome.

Original languageEnglish
Pages (from-to)807-810
Number of pages4
JournalAnnals of Neurology
Volume53
Issue number6
DOIs
Publication statusPublished - Jun 1 2003

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ASJC Scopus subject areas

  • Neuroscience(all)

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