A 16-year-old boy is brought to the clinic due to decreased vision. The patient has noticed some blurriness in his right eye for a few months, and it was confirmed during a vision test when he tried to obtain his driver's license last week. He has no chronic medical conditions. His mother had surgery last year to remove an adrenal tumor. Temperature is 37.1 C (98.8 F), blood pressure is 110/72 mm Hg, pulse is 90/min, and respirations are 20/min. Visual acuity shows 20/60 in the right eye and 20/30 in the left eye. Dilated funduscopic examination of the right eye shows a yellow tumor with tortuous vessels and optic disc edema, findings consistent with retinal hemangioblastoma. In the left eye, there is a smaller lesion along the temporal side of the retina. Skin examination shows a 4-cm, light brown patch on the left lower eyelid extending to the left cheek. Examination is otherwise unremarkable. Which of the following is the most likely diagnosis in this patient?

Question

A 16-year-old boy is brought to the clinic due to decreased vision.  The patient has noticed some blurriness in his right eye for a few months, and it was confirmed during a vision test when he tried to obtain his driver's license last week.  He has no chronic medical conditions.  His mother had surgery last year to remove an adrenal tumor.  Temperature is 37.1 C (98.8 F), blood pressure is 110/72 mm Hg, pulse is 90/min, and respirations are 20/min.  Visual acuity shows 20/60 in the right eye and 20/30 in the left eye.  Dilated funduscopic examination of the right eye shows a yellow tumor with tortuous vessels and optic disc edema, findings consistent with retinal hemangioblastoma.  In the left eye, there is a smaller lesion along the temporal side of the retina.  Skin examination shows a 4-cm, light brown patch on the left lower eyelid extending to the left cheek.  Examination is otherwise unremarkable.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d5e1_9392_bc81_ed1ecc5f1114_MD0003_00 This patient with bilateral retinal hemangioblastomas and a family history of an adrenal tumor most likely has von Hippel-Lindau (VHL) disease. VHL disease is an autosomal dominant disorder in which a mutation in the VHL tumor suppressor gene leads to tumor growth in various organs (eg, CNS, kidney, adrenal gland, eye). VHL disease can present at any age but most commonly manifests during early adulthood. CNS (eg, cerebellum, spinal cord) and retinal hemangioblastomas are the most common lesions in VHL disease. Retinal hemangioblastoma may be the initial neoplasm, as in this patient, and cause decreased visual acuity due to edema and/or distortion of the retina. Bleeding from the tumor can also lead to retinal detachment, glaucoma, and vision loss. Other VHL disease-associated tumors include renal cell carcinomas and pheochromocytomas (arising from the adrenal medulla). VHL gene testing should be performed in any patient with a retinal or cerebellar hemangioblastoma. Once the diagnosis is confirmed, management of VHL disease involves routine tumor surveillance. Laser therapy is the preferred treatment for retinal hemangioblastomas. (Choice A) Li-Fraumeni syndrome is an autosomal dominant disorder caused by a mutation in tumor suppressor gene TP53. Patients have various tumor types, including soft tissue sarcomas, not hemangioblastomas. (Choice B) Patients with multiple endocrine neoplasia type 2b are predisposed to medullary thyroid carcinoma and pheochromocytoma. Eye findings can include conjunctival or corneal neuromas, not retinal hemangioblastomas. (Choice C) Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder with characteristic skin findings, such as axillary freckling and multiple, hyperpigmented café au lait macules. An isolated café au lait macule, as seen on this patient's face, is normal. In addition, NF1 is associated with optic gliomas and Lisch nodules (iris hamartomas), not retinal hemangioblastomas. Neurofibromatosis type 1 (Choice D) Sturge-Weber syndrome is a neurocutaneous disorder characterized by leptomeningeal capillary-venous malformations of the brain and eye. In contrast to this patient's light brown patch, this condition presents with a facial port-wine stain (red-purple vascular patch). Educational objective: Von Hippel-Lindau disease, an autosomal dominant condition caused by a mutation of a tumor suppressor gene, leads to various neoplasms, including CNS and retinal hemangioblastomas, pheochromocytomas, and renal cell carcinomas. References: Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. (http://www.ncbi.nlm.nih.gov/pubmed/28972023) Ocular manifestations of von Hippel-Lindau disease. (http://www.ncbi.nlm.nih.gov/pubmed/31588386)

A 16-Year-Old Boy Is Brought to the Clinic Due to Decreased