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A complicated case of von Hippel-Lindau disease

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Q1: What family history should be explored in a 17 year old girl with multiple cerebellar haemangioblastomas and why?

The development of haemangioblastoma within the central nervous system is a common first manifestation of von Hippel-Lindau disease, which is inherited in an autosomal dominant fashion.1 A careful family history would be expected to reveal similar features of the condition within first/second degree relatives, unless the presenting case represents a sporadic mutation. In this case, there was no such history and subsequent genetic analysis confirmed the diagnosis by revealing a 796C→T nonsense mutation in exon 3 of the von Hippel-Lindau gene.

Q2: What is the nature of the current problem and unifying diagnosis?

Computed tomography reveals a 4 cm round solid right adrenal mass. The MIBG scan shows a focal area of high uptake within the same region. These appearances are consistent with a right adrenal phaechromocytoma, a recognised complication of von Hippel-Lindau disease.

Q3: What other complications occur in this disease?

Various other tumours are associated with von Hippel-Lindau disease. These are often multiple, and present at an earlier age than the sporadic variety.1 Retinal and cerebellar haemangioblastomas are the most frequently observed complications, seen in 59%.2 These are benign tumours, which cause symptoms via the mass effect. Retinal lesions cause disturbance of vision and can lead to blindness if left untreated. This complication has been observed to be the first manifestation of the condition in 43% of affected patients.2 Renal cell carcinoma occurs in 28% of patients, and is the most common cause of death.2Phaechromocytomas occur in 7%–19% of patients.2 3Although most are benign and located within the adrenal gland, some tumours can be extra-adrenal and malignant.4

Q4: What is the significance of thyroid cancer in the mother?

Multiple endocrine tumours within first degree relatives occur in other inherited conditions. Phaechromocytoma andmedullary carcinoma of the thyroid gland may be seen together as part of the multiple endocrine neoplasia (MEN) type IIA (Sipple's) syndrome. Although theoretically, any histological subtype of thyroidal carcinoma can undergo anaplastic degeneration, there is no genetic association per sebetween phaechromocytoma and anaplastic carcinoma of the thyroid. In addition, other manifestations of the MEN syndrome would certainly have been expected in the mother by her age.

Final diagnosis

Right adrenal pheochromocytoma occurring in a patient with known von Hippel-Lindau disease.


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