A 57-year-old woman presented with a 1-year history of blisters and erosions on her oral mucosa with bilateral conjunctivitis and symblephara formation. A diagnosis of cicatricial pemphigoid was made based on the clinical features and immunohistological findings. A multidisciplinary team managed her with different topical and systemic immunosuppressive agents but she finally succumbed due to multi-organ failure secondary to sepsis.

We report the genetic characteristics of a family with familial paraganglioma syndrome. The index patient was diagnosed with carcinoid tumour of the bronchus at the age of 30 years then later diagnosed with bilateral phaeochromocytoma. His sister had bilateral carotid body tumours. Mutational analyses of succinate dehydrogenase B and SDHD on the index patient showed him to be heterozygous for the M1I mutation of the SDHD gene. A genetic analysis revealed that his sister also had succinate dehydrogenase deficiency with the same mutation. Pre-symptomatic testing confirmed the genetic diagnosis, and led to a clinical diagnosis in an otherwise asymptomatic sibling. Comparison with other known cases of M1I mutation suggests that this is a founder mutation in the Chinese population. Genetic analysis of the succinate dehydrogenase genes can provide a specific diagnosis and allow for genetic screening of at-risk individuals.

Dissection of the basilar artery is rare. We report a 51-year-old man who developed acute pontine infarction associated with dissection of the distal basilar artery. There was no trauma or unaccustomed movement of the head and neck prior to the stroke. The dissection was diagnosed non-invasively by magnetic resonance imaging and magnetic resonance angiography. Cervicocerebral artery dissection is a common cause of stroke in young patients particularly when conventional cardiovascular risk factors are absent. Magnetic resonance angiography combined with magnetic resonance imaging is a useful diagnostic tool prior to invasive angiography.

Fahr's disease refers to a rare syndrome characterised by symmetrical and bilateral intracranial calcification. The basal ganglia are the most common site of involvement and most cases present with extra-pyramidal symptoms. We describe two men with Fahr's diseases who presented with prominent frontal lobe symptoms. The first man presented with frequent uncontrollable bursts of laughter and crying spells. He later developed mild dysarthric speech and choreoathetoid movement. The second man presented with progressive changes in personality and behaviour. In both cases, there were no parkinsonian features. Computed tomographic scans of both patients demonstrated extensive symmetrical calcification over the basal ganglia and dentate nuclei. A repeated imaging scan in the second patient revealed progressive cerebral atrophy but reduction in the calcification. No underlying cause for the bilateral calcification was found. As frontal lobe symptoms are usually inconspicuous in the early stage, the presence of these symptoms might be overlooked in clinical practice when compared with those suffering from prominent movement disorders.

Hepatic portal venous gas is a rare radiological finding with a wide spectrum of underlying pathologies. We describe a case of hepatic portal venous gas due to septic thrombophlebitis of the superior mesenteric vein. The clinical management of portomesenteric venous gas and the importance of computed tomography in delineating its underlying causes are discussed.