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A 17 year old female shop assistant presented with a three week history of generalised headache, associated with nausea, vomiting, and vertigo. She had no past medical history, and was taking no regular medication. Her mother was currently receiving radiotherapy for anaplastic carcinoma of the thyroid gland. On examination she had an ataxic gait, bilateral papilloedema, and horizontal nystagmus to right lateral gaze. Left sided dysdiadokinesis and hyper-reflexia were demonstrated. Power and sensation were preserved. Computed tomography of the brain revealed a cystic lesion within the left cerebellum. Subsequent magnetic resonance imaging (MRI) revealed a second, non-cystic lesion within the region of the right vermis (fig 1). Both images were consistent with cerebellar haemangioblastomata. A posterior fossa craniotomy was performed, with successful excision of both tumours. She made an uneventful recovery, with complete resolution of all symptoms, and was subsequently discharged.
During a follow up outpatient appointment six months later, she complained of frequent panic attacks, associated with sweating and palpitation that had begun two months earlier. These episodes were precipitated by exercise or excitement. She gave no history of heat intolerance, weight loss, or diarrhoea. Examination was entirely normal. Abdominal computed tomography (fig 2), and subsequent I131 metaiodobenzylguanidine (MIBG) isotope uptake scan (fig 3) are shown here.
- What family history should be explored in a 17 year old girl with multiple cerebellar haemangioblastomas and why?
- What is the nature of the current problem and unifying diagnosis?
- What other complications occur in this disease?
- What is the significance of thyroid cancer in the mother?
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