A 38-year-old man had been tetraplegic and ventilator-dependent after sustaining a traumatic cervical spine fracture at the C1/C2 level in 1991, at the age of 22 years. He had been bedbound and mechanically ventilated since then. A multidisciplinary management team approached him in 2003 and helped him to become ambulatory and independent in his daily activities of living. We successfully implanted the diaphragm pacing stimulation system in this patient in 2004. Diaphragm pacing by phrenic nerve stimulation is well accepted in western countries, and has been in clinical application for children and adults for decades. Its use facilitates ambulation and improves the quality of life of tetraplegic individuals with chronic ventilatory failure.

Neurodegeneration with brain iron accumulation type 1 (previously known as Hallervorden-Spatz syndrome) is a rare neurodegenerative disorder characterised by its typical clinical and radiological features. We present a case of an adolescent girl with rapidly progressive dystonia in whom the diagnosis of the above disorder was made prior to radiological investigation. This report has been made to highlight the diagnostic relevance of a good history and clinical examination. This is particularly important in a developing country where diagnostic radiological investigations are expensive.

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.