Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs

Karen Meir*, Yakov Fellig, Vardiella Meiner, Stanley H. Korman, Avraham Shaag, Michel Nadjari, Dov Soffer, Ilana Ariel

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)481-486
Number of pages6
JournalPediatric and Developmental Pathology
Volume12
Issue number6
DOIs
StatePublished - Dec 2009
Externally publishedYes

Keywords

  • Carnitine palmitoltransferase
  • Fetal autopsy
  • Multicycstic kidneys
  • Polymicrogyria

Fingerprint

Dive into the research topics of 'Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs'. Together they form a unique fingerprint.

Cite this