Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis

The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS.     

Exophytic gliomas of the spinal cord

Intradural extramedullary glial tumours of the spinal cord are rare. We report for such tumours arising from the dorsal cord. Myelography and operative findings were almost similar to that of an intradural neurofibroma. Surgical removal had resulted in rewarding neurological recovery. One of them had a recurrence after six years and was re-explored. Anterolateral attachment near the root entry zone suggests its origin probably from the spinal cord with an exophytic growth.     

How we do it: Jain Tonsil ‘A’ Frame – a solution to slipping rods

? Tonsillectomy is the commonest ENT procedure performed in UK. ? A Boyle‐Davis mouth gag with tongue blade is used to keep the mouth open during the surgery. ? Draffin bipod rods are commonly used to keep the gag in place. ? These rods can slip during the procedure and can cause considerable harm especially when laser is in use. ? The tonsil ‘A’ frame is a useful instrument to overcome the disadvantages of other suspension devices.