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Acetazolamide is commonly used as an empirical treatment for inherited periodic paralyses although some patients may develop deleterious effects. We report a 65 year-old man with hyperkalemic periodic paralysis and late-onset permanent weakness in association with the common T704M mutation in α-subunit, skeletal muscle voltage-gated sodium channel gene. He rapidly recovered from weakness after acetazolamide treatment. Magnetic resonance imaging of thighs comparing pre- and post-treatment revealed a significant increase in muscle bulk. The patient has been without any type of weakness for over 6 years. This data show the remarkable benefit of acetazolamide on permanent weakness of hyperkalemic periodic paralysis in association with the T704M mutation.

highlights The sensitivities of RNS, SFEMG and AChRAb in the diagnosis of MG were documented. SFEMG abnormality correlated with clinical phenotype and AChRAb seropositivity. Difference in severity between ocular and generalized MG was confirmed by SFEMG. SFEMG demonstrated difference in severity between seronegative and seropositive MG. abstract Objective: To determine the diagnostic sensitivity of repetitive nerve stimulation (RNS), single fiber elec- tromyography (SFEMG) and acetylcholine receptor antibody (AChRAb) in myasthenia gravis (MG), and to compare the degree of SFEMG abnormality between ocular and generalized MG and between seronega- tive and seropositive patients. Methods: The sensitivities of RNS, SFEMG and AChRAb were estimated. SFEMG abnormality was com- pared between ocular and generalized MG and between seronegative and seropositive patients. Results: Abnormal RNS, abnormal SFEMG and AChRAb were detected in 62%, 93% and 38% of 42 ocular, and 80%, 99% and 73% of 70 generalized cases, respectively. The degree of SFEMG abnormality was sig- nificantly greater in the generalized than ocular patients and was significantly greater in the seropositive than seronegative patients in both extensor digitorum communis and orbicularis oculi muscles. Conclusion: SFEMG is a very sensitive and useful test for MG. A correlation between SFEMG abnormality and clinical phenotype or severity and between SFEMG abnormality and AChRAb seropositivity was dem- onstrated. Significance: The sensitivities of RNS, SFEMG and AChRAb in the diagnosis of MG were documented. The differences in severity between the ocular and generalized MG and between the seronegative and sero- positive MG were confirmed and quantitatively determined by SFEMG.

Glioblastoma multiforme (GBM) often occurs in the supratentorial white matter including corpus callosum. However, spinal leptomeningeal metastasis in cases of supratentorial GBM has been reported to be rare and there is usually a long interval between the cerebral lesion and the spinal seeding. We report here a case of GBM at the corpus callosum and other parts of the brain with simultaneous manifestation of spinal leptomeningeal seeding. The patient exhibited an abnormal motor behavior of the left hand as mirror movement when the right hand was performing a unimanual task (diagonistic dyspraxia) which is a sign of lesion of the posterior part and splenium of the corpus callosum. There were also signs of peripheral nerve or nerve root involvement suggestive of spinal metastasis without any sensory symptoms. He died 3 months after the onset of the symptoms confirming the poor prognosis and short survival time in cases with spinal leptomeningeal metastasis reported previously. The cerebral GBM with spinal seeding was disclosed at autopsy.

The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR). We here report our clinical findings in three generation of a large Thai kinship suffering from a SCCMS and trace the disease to the p. Gly153Ser mutation in the AChR α subunit. The same mutation had previously been reported only in Caucasian families but not in Asian patients. The clinical features include ptosis, ophthalmoparesis, and weakness of the cervical and finger extensor muscles as well as marked intrafamily phenotypic heterogeneity.

Idiopathic hypertrophic cranial pachymeningitis is a rare chronic inflammatory process of unknown origin that can cause neurological deficits owing to thickening of the dura. Patients with this condition commonly present with cranial neuropathy accompanied by localized headache. The clinical features, neuroimaging findings, histopathological features and treatment outcomes for three patients with this condition are reported here. The first patient presented with subacute dull headache in the left temporal area followed by left abducens nerve palsy. The second patient suffered from a cranial nerve IX-XII lesion accompanied by an occipital headache and the third patient presented with left optic neuropathy and mild headache in the frontal area. In all patients, MRI of the brain revealed prominent dural thickening, and histopathological study of the dura revealed chronic inflammatory cell infiltration. Combined therapy with corticosteroid and immunosuppressive drugs was effective, resulting in almost complete resolution of the symptoms and signs, except for visual impairment in one patient.