Cockayne syndrome with intracranial calcification, hypomyelination, and cerebral atrophy
نویسندگان
چکیده
منابع مشابه
Sturge-Weber syndrome with bilateral intracranial calcification.
Four children affected by Sturge-Weber syndrome and demonstrating bilateral intracranial calcification are described, bringing up to 21 the number of similar reported cases. The frequency of bilateral hemisphere involvement in this syndrome is not known, but it might be as high as 15%. If present, neurosurgical intervention is, in our opinion, contraindicated.
متن کاملAGC1 deficiency associated with global cerebral hypomyelination.
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psyc...
متن کاملNew syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.
BACKGROUND AND PURPOSE Leukoencephalopathies of unknown origin constitute a considerable problem in child neurology. The purpose of our ongoing study of the subject was to define new disease entities among them by using primarily MR imaging pattern recognition. METHODS We identified seven unrelated patients with a distinct MR imaging pattern consisting of hypomyelination and atrophy of the ba...
متن کاملBrain Atrophy and Hypomyelination Associated with Iatrogenic Cushing Syndrome in an Infant
Prolonged use of topical corticosteroids, particularly in infants, albeit rare, may lead to Cushing syndrome. Central nervous system abnormalities including brain atrophy and delayed myelination on cranial magnetic resonance imaging has been reported in patients with corticosteroid treatment. We herein report a 5-month-old female infant referred to Department of Pediatric Endocrinology, Edirne,...
متن کاملNeuroimaging in Cockayne syndrome.
CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2017
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.185511