Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.

A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.

Eosinophilic myelomeningoencephalitis caused by Angiostrongylus cantonensis: a report of three cases.

Three members of a family developed eosinophilic myelomeningoencephalitis following ingestion of Pila snails. They were father, daughter and son and had similar clinical presentations. Two days after ingestion of snails, they developed a generalized itchy maculopapular rash followed by myalgia, marked paresthesia, fever and headache. Two days later there was weakness of the extremities which was progressive in severity involving the legs more than the arms. They later developed urine retention and cloudiness of consciousness. Two patients progressed to coma, one of whom died after 3 weeks and the other died at home 9 months after the onset. Autopsy of the fatal case revealed multiple tracks and cavities with the presence of Angiostrongylus cantonensis in the brain and various levels of the spinal cord.

Antigens, antibodies and immune complexes in cerebrospinal fluid of patients with cerebral gnathostomiasis.

Methods for the detection of antigens, antibodies and immune complexes in the cerebrospinal fluid (CSF) of patients with neurological manifestations suggestive of cerebral gnathostomiasis were developed, in the hope that they may be useful in confirming the diagnosis of Gnathostoma spinigerum infection. Gnathostoma antigens were determined by a sandwich enzyme linked immunosorbent assay (ELISA) using antibodies from rabbits immunized with the excretory/secretory (ES) antigens obtained from the in vitro supernatant fluid in which the third-stage G. spinigerum larvae were maintained. With a biotin streptavidin procedure, the presence of G. spinigerum antigens as low as 2 ng in one ml of CSF could be detected. An indirect ELISA was used for the quantitation of IgG antibodies in the paired serum and CSF of these patients. A complement consumption method was used for the detection of immune complexes in the concentrated CSF specimens. Of the 11 patients with clinical signs and symptoms suggestive of having G. spinigerum infection involving the central nervous system, only one patient had antigens detected in the CSF and in this one patient no antibody could be demonstrated. One other patient had immune complexes in her CSF. All remaining patients had IgG antibodies demonstrable in the CSF specimens. These data suggest that the detection of IgG antibodies in CSF is more reliable than the other two methods in confirming the diagnosis of cerebral gnathostomiasis.

Regional curare test in the study of neuromuscular transmission in hyperthyroidism.

The findings in this study suggest that there is defect in the neuromuscular transmission in hyperthyroidism. This abnormality was detected in 62 per cent of the patients and did not directly correlate with proximal muscle weakness present in most of the patients. It seems that the weakness in hyperthyroidism is the result of myopathy as well as neuromuscular transmission both of which might be due to the same metabolic derangement but are not directly related. After treatment, the muscle power became normal in all of the patients and the neuromuscular transmission was normalized in most but not all of them. It is possible that this transmission defect may be due to other mechanisms apart from the hormonal disorder e.g. the same processes as that which occurs in myasthenia gravis. The underlying pathophysiology is worth further exploration.