Adult Refsum disease (ARD) is a progressive multisystem disorder that is characterized by retinitis pigmentosa, hearing and smell loss, skeletal deformities, and elevated levels of phytanic acid (PA) in tissues. Peripheral neuropathy, cardiac abnormalities, and skin ichthyosis are considered subsequent manifestations, and are often described in patients not treated with PA dietary restriction. ...

Isolated acute bulbar palsy has been described as one of the more rare variants of Guillain-Barré syndrome. IgG anti-ganglioside antibodies are associated with axonal subtypes of Guillain-Barré syndrome as well as Fisher syndrome. However, IgG against GM3 and GT1b in relation to bulbar palsy is uncommon. In this case report, we describe a 64 year-old male patient presenting with isolated bulbar...

Sir, We read with interest the use of eculizumab as a protection against complement-mediated damage in a murine model of the Miller Fisher syndrome (MFS). This monoclonal antibody not only resulted in protection against functional and morphological terminal motor neuropathy, but effectively prohibited respiratory muscle paralysis (Halstead et al., 2008). These important findings have provided t...

Dear Editor, We describe a patient presenting with atypical overlapping Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS), with positivity for anti-GM1, anti-GD1a, and anti-GD1b IgG antigangliosides, whose initial presentation evoked alimentary botulism (AB). A 50-year-old male patient with no medical history presented at the emergency department with blurred vision, dry mouth, and...

113 To the Editor: Ophthalmoplegia can cause diplopia, with a lot of etiologies including cerebrovascular disease. Nuclear ophthalmoplegia resulted from brainstem infarction is often accompanied by other symptoms of brainstem dysfunction. It is fairly rare that midbrain infarction only manifests as isolated medial rectus nuclear palsy. Here, we provided such an uncommon case and discussed the p...

A 34-year-old man relapsed 11 months after matched sibling stem cell transplantation (SCT) for acute myeloid leukemia (AML). A second remission was obtained with chemotherapy and additional stem cells. Four months later, isolated extramedullary relapse occurred in the tonsils and lymph nodes. A third remission was obtained after withdrawal of cyclosporin and radiotherapy. At 17-month, he compla...

X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition that presents with neonatal hypotonia and weakness and is associated with severe morbidities (including wheelchair, feeding tube, and ventilator dependence) and early death. It is defined by muscle biopsy features, including central nuclei, abnormal oxidative stain distribution, and type I fiber hypotrophy. Mutations in myot...

how to cite this article: khatami m, heidari mm, mansouri r, mousavi f. the polg polyglutamine tract variants in iranian patients with multiple sclerosis. iran j child neurol. 2015 winter; 9(1):37-41. abstract objective multiple sclerosis (ms) is a common disease of the central nervous system. the interaction between inflammatory and neurodegenerative processes typically results in irregular ne...

A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytoc...

neurodegenerative disorders, clinically characterized by a cerebellar syndrome with imbalance, unsteady gait and limb incoordination, dysarthria, and disturbed eye movements. Often there are additional neurological or systemic signs, which are highly variable depending on the genetic subtype and on the individual phenotype. The genetic background of heredoataxias has been largely identified dur...