Patients with neurofibromatosis type 1 are at increased risk of developing carcinoid tumours of the duodenum, particularly in the ampulla of Vater. Aggressive surgery with pancreatoduodenectomy is recommended for all ampullary carcinoid tumours because of their propensity to metastasise. We report a case of a 43-year-old woman with neurofibromatosis type 1, who presented with recurrent epigastric pain for 15 months. Evaluation using magnetic resonance cholangiopancreatography and side-viewing duodenoscopy revealed a submucosal tumour at the ampulla of Vater causing pancreatobiliary ductal obstruction and dilation. The ampullary tumour was overlooked initially by forward-viewing endoscopy. The patient subsequently underwent pancreatoduodenectomy. Histological examination of the surgically resected specimen confirmed the presence of a carcinoid tumour, with metastasis to peri-pancreatic lymph nodes. She remained asymptomatic 10 months after surgery.

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely available and clinical awareness increases, more such patients are expected to be diagnosed.

The combination of elevated serum levels of free thyroid hormones with non-suppressed thyroid-stimulating hormone suggests the differential diagnoses of resistance to thyroid hormone or thyroid-stimulating hormone–secreting pituitary tumour. Clinical differentiation of these two conditions can be difficult, because patients with thyroid hormone resistance may exhibit various combinations of hypermetabolic and hypometabolic features, and laboratory results have limited sensitivity and specificity. We report a case of resistance to thyroid hormone in a Chinese family that illustrates this difficulty. The diagnosis could only be confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor beta gene in peripheral leukocytes. Availability of genetic tests will identify more cases in the future and improve our understanding of this condition.

Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong’s syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this report, we describe the appearance, location, and structure of iliac horns with respect to radiography and magnetic resonance imaging.

A 55-year-old Chinese woman presented with a 3-week history of unilateral left-sided epistaxis and nasal obstruction. She had swum in a freshwater stream 1 month prior to the onset of symptoms. Endoscopic examination revealed a live leech at the left middle meatus with a large part of its body inside the left maxillary antrum. Local anaesthetic was applied to anaesthetise the leech and facilitate removal. Magnetic resonance imaging performed following removal confirmed that no other leeches were present in the sinonasal area. The endoparasitism might have persisted because of the inconspicuous site of infestation and the absence of pain. This form of leech infestation has not been previously reported.