Moyamoya syndrome with unusual angiographic findings and protein C deficiency: review of the literature.

We describe the findings in a six-year-old female with typical clinical symptoms of Moyamoya phenomena, but with an unusual angiographic appearance. The vertebral artery showed segmented occlusion in the upper cervical region, with reconstitution via collateral circulation through muscular branches. The carotid circulation showed involvement of the external carotid artery (ECA) branches and marked narrowing of the internal carotid arteries (ICA) bilaterally, suggesting that this disease is systemic in nature.

A novel form of familial congenital muscular dystrophy in two adolescents.

We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.5%) without fibre-type disproportion. Clinical examination at 12 and 9 years, respectively, showed mild facial weakness and high-arched palate in both patients. The younger sibling also had ptosis but otherwise normal external ocular muscles. They showed symmetric proximal muscle weakness and wasting associated with calf-muscle hypertrophy. They could walk independently. A repeat muscle biopsy showed advanced dystrophic changes in the younger patient at the age of 10 years. Virtually all the remaining fibres were type 1. Immunohistochemistry revealed normal expression of the dystrophin-glycoprotein complex (DGC), including dystrophin, beta-dystroglycan, alpha-(adhalin), beta-, gamma-, and delta-sarcoglycan, laminin-alpha2 chain (merosin) and syntrophin. Mild dystrophic features and type-1 fibre predominance (92.5%) were seen in the biopsy of the older patient, whereas immunohistochemistry showed normal expression of the DGC. Both cases also showed clear expression of integrin alpha7 at the muscle fibre surface and in the blood vessels. Three years later, they could still walk, but with difficulty, and the older brother showed enlargement of the tongue and echocardiographic features of left ventricular dilated cardiomyopathy.

Deep cerebral venous thrombosis presenting as acute amnestic syndrome.

A 45 year-old man presented with a rapid onset of memory impairment Brain computed tomography showed multiple abnormal low density areas in the deep cerebral white matter. Magnetic resonance imaging revealed bilateral thalamic infarcts and extensive thrombosis of the vein of Galen and the straight sinus, which was confirmed by cerebral angiography. The only potential cause was protein S deficiency. Heparin therapy was started only after the occurrence of a pulmonary embolism. The outcome was excellent Deep cerebral venous thrombosis must be considered as a possible cause of amnestic syndrome. Clinical awareness and early use of anticoagulation may alter the usual fatal outcome.

Rapid assay of iopanoic acid in dog plasma using a Hisep column.

A rapid method for the determination of iopanoic acid (IOP) in dog plasma utilizing a Hisep column was developed. A mobile phase of 12% methanol, 88% 0.05 M phosphate buffer pH 3.4 yielded a k' of 8.5 with no interference from proteins present in plasma. Recoveries of IOP from spiked plasma ranged from 97% to 103% at 270 mumol/L and 1.75 mmol/L respectively. Replication was +/- 2.8% at 1.75 mmol/L and +/- 6% at 21 mumol/L. A method utilizing 2,4,6-triiodobenzoic acid as internal standard was also developed for comparison.