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We present a patient whose only physical manifestation of a partial sensory seizure was bilateral pupillary constriction and internal ophthalmoplegia. The onset and offset of each attack corresponded distinctly with an electroencephalographic discharge of the left temporo-occipital region. We
We encountered an apparent bilateral internuclear ophthalmoplegia (INO) in a stuporous patient who used narcotics and benzodiazepines and had taken phenytoin sodium for drug-withdrawal seizures. The INO was promptly reversed by administration of the narcotic antagonist naloxone, which binds opiate
Neurocysticercosis is a common tropical infection presenting with neurological signs. It commonly presents as seizures but various other focal neurological presentations have been reported. Though neurocysticercosis have been reported to present as isolated internuclear ophthalmoplegia, we report
A 50 year old man developed tonic-clonic seizures while receiving cyclosporin A after orthotopic cardiac transplant. The seizures resolved after cessation of cyclosporin A. Thirteen months later, he developed diplopia from bilateral internuclear ophthalmoplegia while receiving intravenous FK506. A
We report two sisters (32 and 36 years old) with familial deaf-mutism, progressive external ophthalmoplegia, leukodystrophy and mitochondrial myopathy. T2-weighted brain MRI demonstrated diffuse symmetrical high intensity areas in the white matter. Their muscle biopsies showed ragged-red fibers and
BACKGROUND
Niemann-Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be
A 10-year-old girl with Fischer`s variant of acute Guillain-Barre syndrome is described. She had predominantly sensory involvement with autonomic dysfunction, ophthalmoplegia and myoclonic jerks. Myoclonus persisted for 2 weeks and the pupillary involvement was evident even after 2 months. The
A 13-year-old boy with imipramine overdose developed seizures, respiratory arrest, and coma. Abnormalities of oculovestibular reflexes, electroencephalograms, and brainstem auditory evoked potentials were monitored in relation to measurements of drug levels. An alpha-coma electroencephalographic
Developmental pseudobulbar palsies seem to be different from the adult form described by Foix, Chavany and Marie. They usually include a major speech delay and severe epileptic seizures. In one clinicopathological case, neuroradiological imaging showed a macrogyric aspect of both rolandic operculi
An 85-year-old man presented with right eye ptosis and visual abnormalities. Due to a lack of abnormal findings on plain magnetic resonance imaging (MRI) and laboratory examination, prednisolone therapy was initiated, and ocular myasthenia gravis and ocular symptoms subjectively improved. However,
Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE). Our aim was to describe the epilepsy syndrome in seven patients with POLG mutations. We retrospectively reviewed the medical records of seven patients with POLG mutations
Edwin Bickerstaff and Philip Cloake reported in the 1950's three cases of reversible encephalitis. The concept of antibody associated encephalitis had not been proposed at the time they astutely recognized the importance of disease pattern recognition and postulated a potential immune based
Whole exome sequencing combined with homozygosity mapping comprises a genetic diagnostic tool to identify genetic defects in families with multiple affected members, compatible with presumed autosomal recessively inherited neurometabolic/neurogenetic disease. These tools were applied to a family
We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common