Article
Licensed
Unlicensed
Requires Authentication
Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
-
,
Published/Copyright:
March 16, 2011
Abstract
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited tumor susceptibility disease characterized by the development of hemangioblastomas of the brain, spinal cord and retina; pheochromocytomas and renal cell carcinoma. The disease is caused by mutations in the VHL tumor suppressor gene located on chromosome 3p26-p25. In this paper, we present two patients with VHL disease type 2B confirmed by genetic analysis. Diagnosis in the first patient was based on demonstration of retinal hemangioblastoma in association with bilateral pheochromocytoma. Family screening revealed renal cell carcinoma in her father and uncle. The second patient was discovered during family screening of another index case in adult age. VHL disease should be clinically suspected in any individual with a pheochromocytoma especially when there is bilateral and/or multifocal disease or family history. Screening of patients and at-risk family members for VHL-associated tumors should be essential in management of VHL.
Published Online: 2011-03-16
Published in Print: 2011-03-01
©2011 by Walter de Gruyter Berlin New York
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Publisher's Note
- Publisher's Note
- Editorial
- Sex steroid priming for growth hormone (GH) provocative tests: an endless debate with insufficient solution
- Not ready for prime time
- Commentary
- Sex hormone priming
- Pros of priming in the diagnosis of growth hormone deficiency
- Images in Pediatric Endokrinology
- Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant
- Original Contributions
- The influence of an educational program on the HbA1c-level of adolescents with type 1 diabetes mellitus: a retrospective study
- Contribution of clinical, metabolic, and genetic factors on hypertension in obese children and adolescents
- Hyperphosphatemic tumoral calcinosis: a 10-year follow-up
- Vitamin D deficiency and insulin resistance in obese African- American adolescents
- Evaluation of children with nutritional rickets
- The effects of delivery route and anesthesia type on early postnatal weight loss in newborns: the role of vasoactive hormones
- Abdominal obesity is associated with cardiovascular risk in Japanese children and adolescents
- PPAR-γ2 Pro12Ala polymorphism is associated with post-challenge abnormalities of glucose homeostasis in children and adolescents with obesity
- The relationship between pubertal gynecomastia, prostate specific antigen, free androgen index, SHBG and sex steroids
- Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy
- The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes
- The frequency of Hashimoto thyroiditis in children and the relationship between urinary iodine level and Hashimoto thyroiditis
- The relationship between serum phosphate levels with childhood obesity and insulin resistance
- The relationship of salivary and cord blood cortisol inpreterm infants
- A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormonefor idiopathic short stature
- Benign transient hyperphosphatasemia in infants and children: a prospective cohort
- Carotid arterial stiffness in overweight and obese Indian children
- Association study in Taiwanese girls with precocious puberty
- Patient Report Letters
- A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy
- Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
- Hot Topic
- Growth hormone and mortality: the anatomy of a global scare
- Meetings
- Meetings Calendar
Articles in the same Issue
- Publisher's Note
- Publisher's Note
- Editorial
- Sex steroid priming for growth hormone (GH) provocative tests: an endless debate with insufficient solution
- Not ready for prime time
- Commentary
- Sex hormone priming
- Pros of priming in the diagnosis of growth hormone deficiency
- Images in Pediatric Endokrinology
- Images in pediatric endocrinology: vitamin D deficiency rickets and other nutritional deficiencies in a 12-month-old infant
- Original Contributions
- The influence of an educational program on the HbA1c-level of adolescents with type 1 diabetes mellitus: a retrospective study
- Contribution of clinical, metabolic, and genetic factors on hypertension in obese children and adolescents
- Hyperphosphatemic tumoral calcinosis: a 10-year follow-up
- Vitamin D deficiency and insulin resistance in obese African- American adolescents
- Evaluation of children with nutritional rickets
- The effects of delivery route and anesthesia type on early postnatal weight loss in newborns: the role of vasoactive hormones
- Abdominal obesity is associated with cardiovascular risk in Japanese children and adolescents
- PPAR-γ2 Pro12Ala polymorphism is associated with post-challenge abnormalities of glucose homeostasis in children and adolescents with obesity
- The relationship between pubertal gynecomastia, prostate specific antigen, free androgen index, SHBG and sex steroids
- Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy
- The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes
- The frequency of Hashimoto thyroiditis in children and the relationship between urinary iodine level and Hashimoto thyroiditis
- The relationship between serum phosphate levels with childhood obesity and insulin resistance
- The relationship of salivary and cord blood cortisol inpreterm infants
- A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormonefor idiopathic short stature
- Benign transient hyperphosphatasemia in infants and children: a prospective cohort
- Carotid arterial stiffness in overweight and obese Indian children
- Association study in Taiwanese girls with precocious puberty
- Patient Report Letters
- A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy
- Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
- Hot Topic
- Growth hormone and mortality: the anatomy of a global scare
- Meetings
- Meetings Calendar
