We report a case of hereditary spastic paraplegia. This 38-year-old Chinese man has had lower limb weakness and spasticity for 10 years. He has normal cognition, no sensory deficits, ataxia or cataracts. There is a strong family history of spastic paraplegia. His paternal grandmother, great uncle, father, and elder brother all had weakness and spasticity. A genetic analysis showed that our patient was heterozygous for the mutation p.P361L in SPG4. He was diagnosed with spastic paraplegia type 4, autosomal dominant (SPG4, MIM#182601). About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. To date, 38 hereditary spastic paraplegia loci and 16 hereditary spastic paraplegia-related genes have been identified. Other features include sphincter disturbance and dorsal column disturbance. Our patient may be the first case of SPG4 confirmed by genetic analysis locally. We hope to raise clinicians' awareness of this disease and its possible molecular diagnosis.

We report on a case of diffuse alveolar haemorrhage in a Chinese woman due to methimazole-induced antineutrophil cytoplasmic antibodies. A literature search for anti-thyroid drugs associated with antineutrophil cytoplasmic antibody-induced diffuse alveolar haemorrhages is reviewed. Diffuse alveolar haemorrhage is a rare complication of thiourea agents and the treatment often requires corticosteroids or other immunosuppressants, together with withdrawal of the causative agent.

Arachnoiditis ossificans is a rare type of chronic arachnoiditis characterised by the presence of calcification or ossification of the spinal arachnoid. There are a few reports of this condition in Japanese and western populations but no case has been reported in a Chinese population before. We describe a 35-year-old woman with typical findings of arachnoiditis ossificans. A brief review of the literature is also presented.

Nodular regenerative hyperplasia of the liver, characterised by regenerative nodules distributed throughout the liver in the absence of fibrosis, is a rare but important complication of systemic lupus erythematosus. The main consequence of nodular regenerative hyperplasia of the liver is non-cirrhotic portal hypertension. This condition is probably underdiagnosed, as many of these patients may remain asymptomatic. Furthermore, nodular regenerative hyperplasia of the liver may be misdiagnosed as cirrhosis. We describe three female patients with nodular regenerative hyperplasia of the liver associated with systemic lupus erythematosus. All three patients have clinical manifestations of portal hypertension, and all were initially misdiagnosed as having cryptogenic cirrhosis.

Large-cell neuroendocrine cervical carcinoma is a rare and aggressive cancer that tends to spread and recur early despite intensive multimodal treatment. The optimal mode of therapy is still controversial and management during pregnancy is challenging because foetal well-being must also be considered. We report a patient with clinically stage IIB large-cell neuroendocrine cervical carcinoma who presented with a cervical polyp and vaginal bleeding at 18 weeks of pregnancy. The patient received concurrent chemotherapy and radiation after termination of pregnancy and remained in complete remission 21 months after completion of treatment.