Childhood leukodystrophies

سال انتشار: 1396
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 492

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شناسه ملی سند علمی:

NGCMED10_167

تاریخ نمایه سازی: 16 تیر 1397

چکیده مقاله:

White matter disorders can be acquired or hereditary. Hereditary white matter disorders can be classified in two categoriesfor better assessment: A- classic leukodystrophies, that affect principally the myelin of the brain (sometimes also of theperipheral nerves) and in many cases some involvement of gray nuclei coexists. B- genetic leukoencephalopathy, in whichduring clinical course of a systemic neurometabolic disorder or other causes, white matter of the nervous system is alsoaffected. The main inheritance pattern of these disorders is autosomal recessive. The reported incidence ofleukodystrophies has a wide range from 1/5000 to 2/100000 among live births. The etiology is not determined in about50% of patients that are categorized as unclassified leukodystrophies and majority of this last group are belonging tohypomyelinating leukodystrophies. The main clinical manifestations of leukodystrophies are regression in motordevelopmental milestones and motor disturbances, especially pyramidal and cerebellar symptoms and signs, with slowmental deterioration. The leukodystrophies may be classified according to enzymatic defect, pathology, etiology, affectedorganells and age of onset. Classification of WMDs according to Brain MRI findings seems to be applied and clinicallyoriented. Major factors in brain MRI that help for better diagnosis are: presence of hypomyelination or demyelination in T1and T2 sequences, main location of involvement (subcortical or periventricular); confluent and symmetric lesions versusmultifocal and asymmetric ones; tigroid pattern; cystic changes and calcification and contrast enhancement. Importantclues for diagnostic approach are: age of onset of symptoms; some hints in history and physical examination such as headcircumference (macrocephaly or microcephaly), other organ involvement (skeletal, dental, gastrointestinal and ocular).The diagnostic strategy rests upon clinical clues and MRI patterns, complemented by appropriately selectedelectrophysiological and laboratory testing. Most leukodystrophies are incurable and have a progressive course, leading topremature death. Diagnosis is important as palliative or experimental therapies may offer benefits, for genetic counselingand family screening of currently unaffected individuals. Some beneficial proceedings for improvement of quality of life ofpatients are: attention to the patient s swallowing and feeding condition; control of pain and spasm and correction ofendocrine abnormalities. More fundamental steps that are considered in recent years to treat these patients are: EnzymeReplacement Therapy (ERT), Substrate Reduction Therapy (SRT), cell-based therapy such as bone marrow transplantationand gene therapy.In our Neurometabolic registry website that constructed in 2010 about 185 patients have been registered that arebelonging to different groups of Neurometabolic disorders. We have registered 80 patients that are categorized into classicand unclassified leukodystrophies. We found that the most common type of leukodystrophy among our patients isMetachromatic leukodystrophy. Other common types were Canavan disease, unclassified leukodystrophies and X-linkedAdrenoleukodystrophy.

نویسندگان

Mahmoud Reza Ashrafi

Professor of pediatric neurology. Pediatric Neurology division , Growth and Development Research Center Children’s Medical Center , Tehran University of Medical Sciences

Alireza Tavasoli

Assistant professor of pediatric neurology. Pediatric Neurology division , Children’s Medical Center , Tehran University of Medical Sciences