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 language | English |
|---|---|
| Pages (from-to) | 807-810 |
| Number of pages | 4 |
| Journal | Annals of Neurology |
| Volume | 53 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 1 2003 |
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ASJC Scopus subject areas
- Neuroscience(all)
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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 journal › Article
}
TY - JOUR
T1 - Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
AU - Wilson, Callum J.
AU - Oliva, Claudio Priore
AU - Maggi, Franco
AU - Catapano, Alberico L.
AU - Calandra, Sebastiano
PY - 2003/6/1
Y1 - 2003/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0038443025&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0038443025&partnerID=8YFLogxK
U2 - 10.1002/ana.10598
DO - 10.1002/ana.10598
M3 - Article
C2 - 12783430
AN - SCOPUS:0038443025
VL - 53
SP - 807
EP - 810
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -