With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis. Here we report the first KIF21A mutation associated with CFEOM1A in Hong Kong.

We describe a 50-year-old man who first presented with multiple skin lesions which were characteristic of Degos' syndrome. The patient developed multiple episodes of abdominal pain. Some episodes resolved with conservative management, for others he underwent urgent operations for bowel perforations. The patient subsequently underwent extensive small bowel resection, but further systemic deterioration ensued and he died. The imaging findings of Degos' syndrome and the implications of pneumatosis intestinalis and pneumoperitoneum are discussed.

Spontaneous rupture of hepatocellular carcinoma with intraperitoneal haemorrhage is a lifethreatening condition. Intraperitoneal spread of the tumour after rupture occurs uncommonly. We report two cases of curative management for recurrent tumour implantation after ruptured hepatocellular carcinoma. The two patients presented with ruptured hepatocellular carcinoma and were treated with transarterial embolisation in the acute episode. Interval partial hepatectomy of the carcinoma was performed after the acute episodes. The first patient presented with a large epigastric mass 2 years after rupture. The mass was found to be adherent to the stomach and omentum. Distal gastrectomy was performed. The second patient presented with a right upper quadrant mass 4 months after rupture, and had a huge tumour attached to the ascending colon. Right hemicolectomy and omentectomy were performed. On histological examination, both tumours were confirmed to be recurrent hepatocellular carcinomas with clear surgical margins. After resection, both patients had no tumour recurrence at 1 year and 3 years, respectively.

Non-cirrhotic portal hypertension is an unusual but potentially serious liver disorder in human immunodeficiency virus–infected patients with prolonged exposure to didanosine. Due to its rarity, the diagnosis is often delayed. It is postulated that didanosine contributes to obliterative portal venopathy and causes portal hypertension. Affected patients may present with abnormal liver function or signs of portal hypertension, while the diagnosis usually depends on liver biopsy. We report a case of non-cirrhotic portal hypertension in a human immunodeficiency virus–infected patient. The reported histological features include nodular regenerative hyperplasia and hepatoportal sclerosis. Early recognition is important as timely management of severe portal hypertension may prevent potentially fatal gastro-intestinal bleeding.

A 66-year-old woman presented to the emergency department after a witnessed cardiac arrest, having had compression-only cardiopulmonary resuscitation initiated by her son on the backseat of his car. She was resuscitated in the emergency department for 1 hour before the return of spontaneous circulation. She then underwent primary percutaneous coronary intervention and therapeutic hypothermia. She was discharged without significant neurological deficit. This case illustrates better survival and neurological outcome can be achieved by prompt implementation of a 'chain of survival' interventions and therapeutic hypothermia.