Recent studies have revealed that encephalitis lethargica (EL) may not be related to influenza virus infection but more likely to be a post-infectious autoimmune disease. The diagnostic clinical criteria for EL like illness include subacute hypersomnolence and ophthalmoparesis followed by Parkinsonism, oculogyric crisis, neuropsychiatric disorders and central respiratory abnormality. Recently, ...

mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...

Mitochondrial disorders can cause an array of neuroophthalmologic manifestations such as ptosis, external ophthalmoparesis, nystagmus, pigmentary retinopathy, and optic neuropathy.1 The m.3243A G point mutation in the mitochondrial genome, an alanine-toguanine transition at position 3243 of mitochondrial DNA, in the MT-TL1 gene that encodes the tRNALeu (UUR), commonly presents as an encephalopa...

We report the first adult case of Influenza A virus infection with acute unilateral oculomotor nerve palsy. Unlike previous reports, our patient showed isolated unilateral oculomotor nerve palsy as soon as she developed general symptoms with Influenza A infection, and demonstrated no significant increases of anti-ganglioside antibodies including anti-GQ1b IgG antibody. She recovered immediately...

INTRODUCTION Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS We descri...

Background. Guillain-Barré syndrome (GBS) has many variants with distinct presentations. Ptosis as an initial presentation is rare. Case Report. We describe a young female with bilateral ptosis without ophthalmoplegia as the initial presentation of Guillain-Barré ptosis in an anti-GQ1b IgG antibody negative patient with a favorable outcome to intravenous immunoglobulins. Objectives. Our paper h...

Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei. Early workers suggested that this alteration represented an arrest in myofiber maturation,...