Document Detail

Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.
MedLine Citation:
PMID:  19335026     Owner:  NLM     Status:  MEDLINE    
Antenatal presentation of carnitine palmitoyltransferase type II deficiency due to mutations in the CPT2 gene has been rarely reported. We report an Ashkenazi Jewish family with 3 terminated pregnancies for multicystic kidneys and/or hydrocephalus. Fetal autopsy after termination of the couple's 4th pregnancy (sib 2) showed renal parenchyma replaced by cysts that appeared to increase in diameter toward the medulla. Fetopsy after termination of the 7th pregnancy (sib 3) revealed micrognathia; hypospadias; cystic renal dysplasia; hepatosteatosis; and lipid accumulation in the renal tubular epithelium, myocardium, and skeletal muscle. Microvascular proliferative changes and focal polymicrogyria were seen in the brain. A beta-oxidative enzyme deficiency was suspected. CPT2 gene analysis showed a homozygous complex haplotype for the F448L mutation associated with a c.del1238_1239AG (p.Q413fs) truncating mutation in exon 4. Carnitine palmitoyltransferase type II deficiency should be included in the differential diagnosis in fetuses of Ashkenazi origin with multicystic kidneys and unusual cerebral findings.
Karen Meir; Yakov Fellig; Vardiella Meiner; Stanley H Korman; Avraham Shaag; Michel Nadjari; Dov Soffer; Ilana Ariel
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  12     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2009 Nov-Dec
Date Detail:
Created Date:  2010-02-03     Completed Date:  2010-04-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  481-6     Citation Subset:  IM    
Perinatal Pathology Unit, Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology*
Carnitine O-Palmitoyltransferase / deficiency*
Hydrocephalus / genetics,  pathology
Jews / genetics
Lipid Metabolism, Inborn Errors / genetics
Multicystic Dysplastic Kidney / genetics,  pathology
Reg. No./Substance:
EC O-Palmitoyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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