Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestations including neuromuscular problems and endocrine disorders. Cardiac conduction defects can develop insidiously, leading to sudden death sometimes if not promptly recognised. This report focuses on the diagnosis of Kearns- Sayre syndrome in a Chinese girl who presented initially with short stature, delayed puberty, insidious onset of ptosis and later with typical features of Kearns-Sayre syndrome including complete heart block. Genetic analysis disclosed a novel 7.2 kilobases deletion in muscle tissue. Mitochondrial diseases have heterogeneous phenotypes and mutational analysis has proven to be an effective tool for confirming the diagnosis.

Hereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the pure-form autosomal dominant type is the one most commonly reported. Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias. Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. To our knowledge, this is the first report of a gene mutation in hereditary spastic paraplegias in our locality. DNA-based diagnosis plays a key role in the early diagnosis of familial hereditary spastic paraplegias.

Orbital vascular malformations usually present with proptosis. We report a case where a patient with an orbital venous malformation presented with enophthalmos. Since many underlying orbital pathologies, including orbital metastases, can cause enophthalmos, it is important to investigate patients properly. Computed tomographic imaging of the orbit remains the most useful tool in the management of patients with enophthalmos.

Triceps tendon rupture is a rare condition. The usual mechanism of injury is a fall on an outstretched hand, although direct contact injuries have also been reported to cause this injury. A 67-year-old woman presented with injuries caused by direct impact to her right elbow after a fall. X-rays of the elbow demonstrated the cardinal clinical 'gap' and 'flake' signs. It is necessary to be aware of this injury and perform a careful examination at the time of the initial presentation, as the signs of this injury are usually subtle. Most reported primary repairs have been performed with non-absorbable transosseous sutures. In this case report, we show how using suture anchors for reattachment is a technically feasible alternative operative method providing a good surgical outcome.

We report a case of primary hepatic peripheral T-cell lymphoma in a patient with hepatitis B virus-related cirrhosis. This patient presented with a solitary hepatic lesion with computed tomography and magnetic resonance imaging features that did not resemble hepatocellular carcinoma. Subsequent biopsy of the lesion revealed that it was a peripheral T-cell lymphoma. The patient was successfully treated with multi-agent chemotherapy followed by radiofrequency ablation. Although hepatocellular carcinoma is the most frequently encountered primary hepatic tumour in patients with hepatitis B virus-related cirrhosis, primary hepatic lymphoma should also be borne in mind. Nevertheless, primary hepatic lymphoma is a rare entity, and has no proven association with chronic hepatitis B infection.