منابع مشابه
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature
Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with primary amenorrhea at the age of 19. She had a history of very mild neurological and dental abnor...
متن کامل[Globoid cell leukodystrophy].
A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy. Globoid cell leukodystrophy is caused by the deficien...
متن کاملNeurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy
BACKGROUND Pol III-related leukodystrophies, including 4H leukodystrophy, are recently recognized disorders that comprise hypomyelination and various neurologic and non-neurologic clinical manifestations. We report the unique neurologic presentation of the micturition dysfunction in Pol III-related leukodystrophy and describe the novel endocrine abnormalities in this entity. CASE PRESENTATION...
متن کاملMR of childhood metachromatic leukodystrophy.
PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...
متن کاملadreno leukodystrophy
how to cite this article: taghdiri mm. adreno leukodystrophy. iran j child neurol. autumn 2014;8;4(suppl.1):13. pls see pdf.
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2020
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000409