Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive inherited neurodegenerative disorder caused by the deficiency of the lysosomal enzyme beta-galactosylceramidase. The pathogenesis of the disorder has been proposed to arise from the accumulation of the cytotoxic metabolite galactosylsphingosine (psychosine). The twitcher mouse is a naturally occurring murine model of globoid...

IMPORTANCE We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT). OBSERVATIONS We conducted serial magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-MRS) as standard follow-up after HSCT with cord blood in 1 patient with juvenile metachromatic leukodystro...

Fluoroacetamide is a high effective rodenticide with broad spectrum. A series of toxic symptoms emerge such as nausea, vomiting with bloody vomitus, epigastric burning, dizziness, headache, fatigue, face muscle twitching, dysphoria, expiratory dyspnea, hypotension, recurrent epigastric burning, general paroxysmal and tonic convulsion. Fluoroacetamide toxic leukodystrophy was rarely reported. He...

OBJECTIVE Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. MATERIALS & METHODS Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirm...

how to cite this article: javadzadeh m. cockayne syndrome. iran j child neurol. autumn 2014;8;4(suppl.1):18-19. pls see pdf.

how to cite this article: mahvelati shamsabadi f. leukodystrophies with intracranial calcifications. iran j child neurol. autumn 2014;8;4(suppl.1):16-17. pls see pdf.

POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA revealed a large deletion of exons 21-22 in one case and of exons 26-27 in another case. These a...

In a clinically unremarkable 39 year old sister of a patient afflicted with late adult metachromatic leukodystrophy, metachromatic deposits in the epithelial cells of the urine sediment, a high sulphatide excretion in the urine, and a deficiency of arylsulphatase A in urine and leucocytes were found. The motor nerve conduction velocity of the peripheral nerves in upper and lower extremities was...