title: Hypokalemic rhabdomyolysis due to WDHA syndrome caused by VIP-producing composite pheochromocytoma: a case in neurofibromatosis type 1.
abstract: A 47-year-old woman with neurofibromatosis type 1 suffered from general muscle weakness and watery diarrhea. Laboratory findings showed elevated muscular enzymes, severe hypokalemia and excessive production of catecholamines and vasoactive intestinal polypeptide (VIP). A computed tomography scan showed a 10 cm left adrenal mass, in which [(131)I]-metaiodobenzylguanidine scintigraphy showed high uptake. After she underwent surgical removal of the tumor, all the symptoms and signs subsided. A histological study revealed that the mass consisted of pheochromocytoma and ganglioneuroma, respectively producing catecholamines and VIP. In immunohistochemical staining of neurofibromin, pheochromocytoma and ganglion cells showed positive staining, whereas the staining was negative for nerve bundles and Schwann cells. We concluded that the patient had hypokalemic rhabdomyolysis due to watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome, which was induced by a VIP-producing composite pheochromocytoma. Composite pheochromocytoma is a neuroendocrine tumor that is composed of pheochromocytoma and ganglioneuroma, both derived from the neural crest. Deficiency of neurofibromin in Schwann cells might have played an important role in the development and the growth of the composite pheochromocytoma in this patient.
authors: Department of Internal Medicine, Asahikawa City Hospital, Hokkaido, Japan. masahiro.onozawa@nifty.ne.jp
authors: Masahiro
authors: M
authors: Onozawa
authors: Takashi
authors: T
authors: Fukuhara
authors: Madoka
authors: M
authors: Minoguchi
authors: Mutsumi
authors: M
authors: Takahata
authors: Yasushi
authors: Y
authors: Yamamoto
authors: Takayoshi
authors: T
authors: Miyake
authors: Koichi
authors: K
authors: Kanagawa
authors: Makoto
authors: M
authors: Kanda
authors: Isao
authors: I
authors: Maekawa
mesh_terms: D019797:3-Iodobenzylguanidine; D000126:Achlorhydria / Q000209:etiology*; D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism / Q000601:surgery; D003967:Diarrhea / Q000209:etiology*; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000209:etiology*; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*; D010673:Pheochromocytoma / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism / Q000601:surgery; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D012206:Rhabdomyolysis / Q000209:etiology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014660:Vasoactive Intestinal Peptide / Q000378:metabolism*
chemical_list: D019275:Radiopharmaceuticals; D019797:3-Iodobenzylguanidine; D014660:Vasoactive Intestinal Peptide