Canalizo ME, Simón VWF, Castillo MJA, Cortinas LL, Sánchez PV, Arellano MSA

Language: Spanish
References: 7
Page: 115-118
PDF size: 94.51 Kb.

ABSTRACT

Review of a clinical case of von Hippel Lindau’s disease that is a rare disorder with a low incidence. The case of 22-year-old man, has been counting on antecedent of resection of pheocromocytoma to 14-year-old. That came to the endocrinology department with palpitations in rest associated to sweating of hands in paroxysms, being documented arterial hypertension. In this occasion he refers parestesias and disestesias in 4th and 5th left fingers, with diminution of the sensitivity, accompanied by instability of the march. Laboratory studies are made and image which report elevated levels of metanephrines plasmatic and urinary, also compatible images with hemangioblastoma to cerebelar and second spinal injury, therefore, it was put under operation without complications, images in CT of suprarenal glands, compatible with tumor at left level, evidence of compatible injuries with renal cysts of right predominance and at pancreatic level. Patient present diminution of visual sharpness secondary to the presence of retinal angioma, genetic study located in exon 3 an abnormal band with a mutation VHL c.698 G/T with consequence to level of amino acid C162F. Reason why concluded diagnose of von Hippel Lindau’s disease. With this case we can conclude that although the von Hippel Lindau’s disease is a rare disorder a high index of suspicion when must exist mainly the clinical presentation of a pheocromocytoma happens in pediatric age and that the genetic study is high-priority as much for the diagnosis and Prevention of this pathology.

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