Document Detail


Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene.
MedLine Citation:
PMID:  11990703     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pheochromocytomas are frequently associated with inherited cancer syndromes such as von Hippel-Lindau disease (VHL). Retinal angioma and hemangioblastomas of the central nervous system are hallmarks of VHL, but its clinical variety is remarkably broad. Pheochromocytomas as the sole or first manifestation of VHL are rare but have been observed. In this case report, the authors describe an unusual case of initial collapse, seizures, and hypertensive crisis in a child who later was found to have multiple extraadrenal pheochromocytomas. Molecular diagnostics revealed a novel point mutation in the VHL gene (VHL nt. 406 T-->G). Only 7 months after the first lesions had been removed, a new paraganglioma developed in the contralateral periadrenal region. When encountering pheochromocytomas in children, the clinician should be aware that an associated tumor syndrome might be present, and appropriate molecular screening should be initiated. Molecular genetics aid in the clinical decision-making and clinical management of individual patients with pheochromocytoma.
Authors:
Peter Reichardt; Thomas W Apel; Manfred Domula; Ralf-Bodo Tröbs; Ingrid Krause; Uta Bierbach; Hartmut P H Neumann; Wieland Kiess
Related Documents :
10572373 - Combining nefazodone and midazolam during ect.
7036373 - Non-epileptic symptoms of temporal lobe dysfunction.
23256173 - Reporting and publishing guidelines: article 12 in integrating and coordinating efforts...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  24     ISSN:  1077-4114     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-05-06     Completed Date:  2002-06-04     Revised Date:  2011-10-06    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  145-8     Citation Subset:  IM    
Affiliation:
Intensive Care Unit, Children's Hospital of the University of Leipzig, Germany. reichp@medizin.unileipzig.de
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abdominal Neoplasms / genetics*
Amino Acid Substitution*
Child
Codon / genetics
Diagnosis, Differential
Humans
Hypertension / etiology
Ligases / genetics*
Magnetic Resonance Imaging
Male
Mutation, Missense*
Neuroblastoma / diagnosis
Paraganglioma, Extra-Adrenal / genetics*
Point Mutation*
Seizures / etiology
Thoracic Neoplasms / genetics*
Tumor Suppressor Proteins*
Ubiquitin-Protein Ligases*
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease / diagnosis,  genetics*
Chemical
Reg. No./Substance:
0/Codon; 0/Tumor Suppressor Proteins; EC 6.-/Ligases; EC 6.3.2.19/Ubiquitin-Protein Ligases; EC 6.3.2.19/VHL protein, human; EC 6.3.2.19/Von Hippel-Lindau Tumor Suppressor Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Unique management of stage 4S neuroblastoma complicated by massive hepatomegaly: case report and rev...
Next Document:  Brain metastases in Wilms' tumor: case report and literature review.