Document Detail


Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.
MedLine Citation:
PMID:  19694205     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: We report a 15-year-old girl with a recent diagnosis of type 2 diabetes mellitus who presented in malignant hypertensive crisis (BP 210/120 mm Hg). Abdominal CT showed an 8.2 x 4.7 x 7.0 cm mass in the region of the organ of Zuckerkandl. MIBG scan showed a single paraganglioma without metastatic foci. Plasma total metanephrines were 232,176.4 pmol/l [263-1052] with normetanephrine predominance. Pre-operative course was complicated by ischemic stroke in the left MCA and right thalamic regions, acute renal failure, rhabdomyolysis and congestive heart failure. She required massive doses of propranolol, phenoxybenzamine, doxazosin and metyrosine prior to surgery. RESULTS: Pathology showed a Zellballen pattern, negative tumor margins and benign para-aortic lymph nodes. Mutation analysis of the succinate dehydrogenase type B (SDHB) gene revealed a heterozygous change of C to T at position 640 in exon 6 (Q214X) predicting an amino acid change to a stop codon. CONCLUSION: We report a severe clinical phenotype in a patient with a paraganglioma affecting multiple organ systems, due to an SDHB mutation. SDHB mutation warrants close follow up and investigation of the family due to high malignant potential and risk of familial occurrence.
Authors:
M S Kim; C Muratore; L Snelling; D E Mandelbaum; R McEachern; S Mangray; M Faizan; J B Quintos
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  22     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-08-21     Completed Date:  2009-09-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  565-71     Citation Subset:  IM    
Affiliation:
Department ofPediatrics, Rhode Island Hospital/Warren Alpert Medical School of Brown University, Providence, RI, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Brain Ischemia / etiology*
Diabetes Mellitus, Type 2 / complications,  pathology
Exons / genetics
Female
Germ-Line Mutation*
Heart Failure / etiology,  pathology
Humans
Hypertension, Malignant / etiology,  pathology
Para-Aortic Bodies / pathology
Paraganglioma, Extra-Adrenal / genetics*,  surgery
Retroperitoneal Neoplasms / genetics*,  surgery
Rhabdomyolysis / etiology*
Stroke / etiology*
Succinate Dehydrogenase / genetics*
Chemical
Reg. No./Substance:
EC 1.3.5.1/SDHB protein, human; EC 1.3.99.1/Succinate Dehydrogenase

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


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