Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

[von hippel-lindau disease]

A 7 -year -old girl presented with decreased vision in both eyes for 1 month . Examination showed visual acuity of 20 /50 and 20 /60 , no afferent pupillary defect , cecocentral scotomas , and bilateral optic disc edema with extensive peripapillary and macular exudates . Magnetic resonance imaging showed multiple cortical and subcortical white matter lesions . Both the laboratory workup and the systemic examination were unrevealing . However , on follow-up , the patient showed episodic elevations of blood pressure as high as 240 /160 . Further workup revealed elevated urine catecholamines and a right supra-adrenal mass proven to be a pheochromocytoma by histopathologic analysis . The paroxysmal hypertension resolved , and the visual acuity , visual fields , fundus exam , and neuroimaging improved . The patient was lost to follow-up until age 18 when she developed shortness of breath and was found to have multiple pulmonary metastases identified as pheochromocytoma by biopsy . Genetic testing identified a 3 p 25 -26 (c .482 G >A ) VHL gene chromosomal mutation consistent with von Hippel-Lindau disease genotype . Multiple peripheral retinal vascular dilations and small retinal capillary hemangioblastomas were also found . This case highlights the importance of recognizing the lability of blood pressure often seen with pheochromocytomas , which may mask the underlying cause of hypertensive papillopathy and retinopathy , a diagnosis of low clinical suspicion in the pediatric population . The case also underscores the importance of thorough systemic workup , including genotyping to detect conditions where pheochromocytoma may be the presenting sign of the disease , such as multiple endocrine neoplasia 2 A and 2 B , von Hippel-Lindau disease , von Recklinghausen disease , tuberous sclerosis , and Sturge-Weber syndrome .

Diseases
Validation

Diseases presenting "hypertension" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

aniridia

aromatase deficiency

cadasil

child syndrome

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cushing syndrome

cystinuria

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial hypocalciuric hypercalcemia

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kallmann syndrome

kindler syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

pendred syndrome

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

sneddon syndrome

typhoid

von hippel-lindau disease

well-differentiated liposarcoma

werner syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated