Donald McLean

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy linked to chromosome 2p12-14 that has not been described in Saudi Arabia. A Saudi family with five siblings aged 3-25 years, an unrelated 18-year-old woman and a 40-year-old man with MM were identified. All patients underwent a neurological examination, serum chemistry, electromyography and MRI of the legs. Four patients underwent a muscle biopsy that was processed for routine enzyme histochemistry and immunocytochemical analyses for dystrophin and adhalin (alpha-sarcoglycan). The two sporadic and two familial cases showed classic findings of MM, including early adult onset, preferential involvement of gastrocnemius muscles, markedly elevated serum creatine kinase levels and dystrophic-appearing muscle without vacuoles. Magnetic resonance imaging revealed selective involvement of the posterior compartment muscles and myoedema by STIR sequences. The remaining three familial cases had elevated serum creatine kinase levels and two also had early myopathic findings by EMG suggestive of MM.

Respiratory arrest: a complication of Arnold-Chiari malformation in adults.

We describe the cases of 2 adult patients who developed respiratory arrest and were found to have Arnold-Chiari malformation on magnetic resonance imaging. Following posterior fossa decompression both patients improved, though one of them subsequently died during sleep. Imaging of the craniocervical junction should be part of the workup of patients with unexplained apneic episodes.

Transcranial magnetic stimulation in Behçet's disease: a cross-sectional and longitudinal study with 44 patients comparing clinical, neuroradiological, somatosensory and brain-stem auditory evoked potential findings

OBJECTIVES To compare neurological involvement in Behçets disease as documented by transcranial magnetic stimulation (TMS) with clinical, neuroradiological, somatosensory (SEP) and auditory evoked potential (BAEP) findings. METHODS Forty-four patients were studied over an 8 year period. Nine patients had follow-up studies done. TMS central motor conduction (CMC) studies to upper and lower limb muscles, brain magnetic resonance imaging (MRI), SEP, and BAEP testing were conducted. RESULTS Thirty-nine patients had CMC slowing, decreased amplitude or absent motor evoked potentials (MEP); 5 of these patients were neurologically normal. Concordance of TMS results, clinical deficits, and MRI findings occurred in 36 of the 39 patients. SEP and BAEP testing proved non-complementary to MEP. Generally, follow-up studies revealed faster CMC and higher MEP amplitude. However, in two patients the CMC time to one target muscle became prolonged with diminished MEP amplitude over a period of 1.5-3 years. CONCLUSIONS TMS can be useful in detecting and quantifying motor tract dysfunction in Behçets disease and provides functional information complementary to imaging studies. TMS is more sensitive than either SEP or BAEP. Our longitudinal studies suggest that TMS studies may be valuable in monitoring disease activity or therapeutic response.

Hemiplegia caused by inadvertent intra-carotid infusion of total parenteral nutrition

A 24 year-old woman developed acute hemiplegia and a seizure following accidental catheterization of the right common carotid artery and total parenteral nutrition infusion. Magnetic resonance imaging of the brain showed lesions in the frontal lobe and putamen consistent with an ischemic stroke. Angiography through the central venous catheter confirmed its intra-arterial location. The patients weakness improved after hyperbaric oxygen treatment. We concluded that stroke or seizures during total parenteral nutrition administration through a central venous catheter should alert one to the possibility of inadvertent intra-arterial infusion, especially in patients who have had central lines inserted several times previously.