Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction.

[von hippel-lindau disease]

A 26 -year -old male presented to the emergency department complaining of obstipation , severe headache and abdominal pain . An autopsy revealed bilateral pheochromocytoma and acute myocardial infarction . The tumor cells showed positive immunoreactivity of both chromogranin A and synaptophysin and were negative for adrenocortical markers such as SF-1 , c 17 , scc , 3 -HSD as well as SDHB , suggesting a germline mutation of the gene SDHB or SDHD . Molecular genetic analyses did not show a mutation in these two genes , but a mutation in the VHL gene , in exon 3 : VHL c .499 C >T . This is a missense mutation and causes an amino acid change (Arg 167 Trp ).

Diseases
Validation

Diseases presenting "abdominal pain" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital diaphragmatic hernia

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

pleomorphic liposarcoma

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

This symptom has already been validated