POEMS syndrome with venous sinus thrombosis and visual failure: a case report.

POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes) syndrome is a multisystem disorder associated with plasma cell dyscrasia. Other clinical signs include clubbing of the fingers, edema, papilledema etc. Although papilledema and increased intracranial pressure are common features, their causes or pathophysiology have been uncertain. The authors report here a 16-year-old Thai patient with these features who also suffered from venous sinus thrombosis and visual failure which have never been reported before. The former is considered to be one of the possible causes of the intracranial hypertension and visual failure. MRI of the brain and optic nerve revealed enhancement and swelling of the optic nerve sheaths and optic discs. MRV findings were compatible with chronic veno-occlusive disease. Bone marrow aspiration and biopsy demonstrated an increase of aggregates of intermediate and mature plasma cells. The CSF pressure was markedly elevated. His clinical condition continued to deteriorate and he expired 3 years and 5 months from the onset of his illness. Although, overproduction of vascular endothelial growth factor has been reported and is being considered to be the possible cause of vascular hyperpermeability, the chronic venous sinus thrombosis may play an important role in the pathogenesis of intracranial hypertension and visual failure.

Oculopharyngodistal myopathy in a Thai family.

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand