title: Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
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 theCPT2gene. 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 theVHLgene might protect against renal damage caused byCPT2gene mutations.
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Alfonso Massimiliano
authors.initials: AM
authors.lastname: Ferrara
authors.affiliation: Neuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Zovato
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Rizzati
authors.affiliation: Neuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Colombo
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.affiliation: Neuromuscular and Rare Disease Unit, Dino Ferrari Centre, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.|Department of Medicine, DIMED University of Padua, Padua, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Opocher
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D006720:Homozygote; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D051437:Renal Insufficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*
chemical_list: D002334:Carnitine O-Palmitoyltransferase; D051794:Von Hippel-Lindau Tumor Suppressor Protein
keywords: Acute kidney injury; Carnitine palmitoyltransferase type II; Neoplasms; Rhabdomyolysis; von Hippel-Lindau disease