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

22 Citations (Scopus)

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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Hyperlipoproteinemia Type I
Brain Diseases
Biochemistry
Apolipoprotein C-II
Lipids
Chylomicrons
Lipoprotein Lipase
Point Mutation
Lipoproteins
Siblings
Mutation
Brain
Genes
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. / Wilson, Callum J.; Oliva, Claudio Priore; Maggi, Franco; Catapano, Alberico L.; Calandra, Sebastiano.

In: Annals of Neurology, Vol. 53, No. 6, 01.06.2003, p. 807-810.

Research output: Contribution to journalArticle

Wilson, Callum J. ; Oliva, Claudio Priore ; Maggi, Franco ; Catapano, Alberico L. ; Calandra, Sebastiano. / Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. In: Annals of Neurology. 2003 ; Vol. 53, No. 6. pp. 807-810.
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