A pediatric case of pheochromocytoma without apparent hypertension associated with von hippel-lindau disease

Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa

Research output: Contribution to journalArticle

Abstract

Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed. Abdominal ultrasonography revealed a right adrenal gland tumor. Fractionated catecholamines and metanephrines in plasma and 24-h collected urine revealed elevated levels of norepinephrine and normetanephrine. Although hypertension and tachycardia were inapparent by an ordinary physical examination, paroxysmal mild hypertension and tachycardia were identified by a thorough examination after walking and abdominal compression. Paroxysmal hypertension and tachycardia were profound during operation. In conclusion, pheochromocytoma can be a consideration in the differential diagnosis of weight loss. Hypertension and tachycardia can be inapparent and paroxysmal in pediatric patients as well as in adults; thus, thorough assessment should be repeated.

Original languageEnglish
Pages (from-to)87-93
Number of pages7
JournalClinical Pediatric Endocrinology
Volume27
Issue number2
DOIs
Publication statusPublished - 2018 Jan 1

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von Hippel-Lindau Disease
Pheochromocytoma
Pediatrics
Hypertension
Tachycardia
Catecholamines
Weight Loss
Normetanephrine
Metanephrine
Paroxysmal Tachycardia
Neoplasms
Germ-Line Mutation
Ferritins
Adrenal Glands
C-Reactive Protein
Physical Examination
Walking
Anemia
Ultrasonography
Norepinephrine

Keywords

  • Asymptomatic
  • Pheochromocytoma
  • VHL
  • Weight loss

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

A pediatric case of pheochromocytoma without apparent hypertension associated with von hippel-lindau disease. / Igaki, Junko; Nishi, Akira; Sato, Takeshi; Hasegawa, Tomonobu.

In: Clinical Pediatric Endocrinology, Vol. 27, No. 2, 01.01.2018, p. 87-93.

Research output: Contribution to journalArticle

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