Cancer Res Treat.  2016 Oct;48(4):1438-1442. 10.4143/crt.2015.450.

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

• Ferrara AM
• Sciacco M
• Zovato S
• Rizzati S
• Colombo I
• Boaretto F
• Moggio M
• Opocher G

• KMID: 2356246
• DOI: http://doi.org/10.4143/crt.2015.450

Abstract

von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL. He was diagnosed with VHL but without VHL-related manifestation at the time of diagnosis. During childhood, the patient was hospitalized several times for diffuse muscular pain, muscle weakness, and dark urine. These recurrent attacks of rhabdomyolysis were never accompanied by ARF. The patient was found to be homozygous for the mutation p.S113L of the CPT2 gene. To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations.

Keyword

von Hippel-Lindau disease; Carnitine palmitoyltransferase type II; Neoplasms; Rhabdomyolysis; Acute kidney injury

MeSH Terms

Acute Kidney Injury
Carnitine O-Palmitoyltransferase
Diagnosis
Humans
Lipid Metabolism
Male
Models, Animal
Myalgia
Myoglobinuria
Rhabdomyolysis
von Hippel-Lindau Disease
Carnitine O-Palmitoyltransferase

Figure

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  Fig. 1. (A) Family pedigree. Genotypes and clinical manifestations are aligned with each subject. VHL, von Hippel-Lindau; CPT, carnitine palmitoyltransferase; wt, wild-type allele; mt, mutant allele; Hb, SNC hemangioblastomas; RC, renal cysts; pNET, pancreatic neuroendocrine tumor; TPGL, tympanic paraganglioma; RCH, retinal capillary hemangioblastomas; PC, pancreatic cysts; ELST, endolymphatic sac tumor; Pheo, pheochromocytoma; EC, epydidimal cyst; AC, asymptomatic carrier; W, weakness; MA, muscular algias; M, myoglobinuria. (B-D) Quadriceps muscle biopsy of the proband, performed in 2008, showing scattered ghost fibers (arrows) (B, Gomori trichrome, ×20; C, H&E staining, ×40; D, NADH, ×20).

Reference

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