Abstract
Background
The clinical phenotypes of carnitine palmitoyltransferase type-2 deficiency (CPT2D) are classified into lethal neonatal, severe infantile and muscle forms. The rarest form is the lethal neonatal form.
Case presentation
The patient was hypotonic and bradycardic at admission. Blood urea nitrogen and creatinine were high. He had polycystic kidneys, patent foramen ovale and aortic valve insufficiency. Cranial magnetic resonance imaging (MRI) revealed increased signal intensities in the periventricular white matter. Tandem mass spectrometry (MS) analysis was compatible with CPT2D. We found a homozygous in-frame deletion in the CPT2 gene using next-generation sequencing.
Conclusions
We identified a novel mutation leading to the lethal form of CPT2D with polycystic kidney, cardiac malformation and cranial MRI findings. Our findings expand the spectrum of causative mutations and clinical findings in CPT2D.
Acknowledgments
We thank the parents of the patient for their cooperation.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Merritt JL, Vockley J. Specific fatty acid oxidation disorders. In: Hahn S, editor. UpToDate. Waltham, MA: UpToDate Inc. https://www.uptodate.com. Accessed: 11 Jan 2019.10.1097/01.COT.0000554500.76160.69Search in Google Scholar
2. Tajima G, Hara K, Yuasa M. Carnitine palmitoyltransferase II deficiency with a focus on newborn screening. J Hum Genet 2019;64:87–98.10.1038/s10038-018-0530-zSearch in Google Scholar PubMed
3. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, et al. Integrative genomics viewer. Nat Biotechnol 2011;29:24–6.10.1038/nbt.1754Search in Google Scholar PubMed PubMed Central
4. Malik S, Paldiwal AA, Korday CS, Jadhav SS. Neonatal carnitine palmitoyltransferase II deficiency: a lethal entity. J Clin Diagn Res 2015;9:SD01–2.10.7860/JCDR/2015/13600.6560Search in Google Scholar PubMed PubMed Central
5. Meir K, Fellig Y, Meiner V, Korman SH, Shaag A, et al. Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs. Pediatr Dev Pathol 2009;12:481–6.10.2350/08-10-0548.1Search in Google Scholar PubMed
6. Du SH, Zhang F, Yu YG, Chen CX, Wang HJ, et al. Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. Forensic Sci Int 2017;278:e41–4.10.1016/j.forsciint.2017.06.020Search in Google Scholar PubMed
7. Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest 2003;83:1543–54.10.1097/01.LAB.0000098428.51765.83Search in Google Scholar
8. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, et al. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 2004;25:495–520.10.1016/j.mam.2004.06.004Search in Google Scholar PubMed
9. Pierce MR, Pridjian G, Morrison S, Pickoff AS. Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. Clin Pediat 1999;38:13–20.10.1177/000992289903800102Search in Google Scholar PubMed
© 2019 Walter de Gruyter GmbH, Berlin/Boston
