کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
6462311 1361865 2017 4 صفحه PDF ندارد دانلود کنید
عنوان انگلیسی مقاله
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
موضوعات مرتبط
مهندسی و علوم پایه شیمی شیمی آنالیزی یا شیمی تجزیه
پیش نمایش صفحه اول مقاله
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency
چکیده انگلیسی

•We present the case of CPT2 deficiency, extremely rare in forensic practice.•HE and Sudan III staining showed that significant steatosis of important organs.•TMS analysis and genetic testing were performed to estimate the CPT2 deficiency.•A parental genetic testing can be helpful in the diagnosis of this disease.

A full-term female baby born to parents who gave birth three years prior to a girl who survived only 31 h postpartum died 36 h after birth. An autopsy showed that the heart was markedly hypertrophic (32 g). Microscopically, the myocardium, liver and kidney cells exhibited extensive vacuolar degeneration. Sudan III staining was positive in cardiac muscle, liver and kidney tissue. Tandem mass spectrometry analysis revealed that the deceased patient had a carnitine palmitoyl transferase II (CPT2) deficiency or a carnitine-acylcarnitine translocase deficiency. Genetic testing of the parents revealed heterozygous CPT2 mutations, indicating that their offspring would have a 25% chance of having a CPT2 deficiency. Therefore, we speculated that CPT2 deficiency might be the cause of death based on the results of staining, tandem mass spectrometry analysis and parental genetic testing.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Forensic Science International - Volume 278, September 2017, Pages e41-e44
نویسندگان
, , , , , ,