Cystic leukoencephalopathy without megalencephaly.
نویسندگان
چکیده
Division of Child Neurology / Department of Neurology and Neurosurgery, Federal University of Sao Paulo, Sao Paulo SP, Brazil (UNIFESP-EPM): Resident, Department of Pediatrics, UNIFESP-EPM; Resident, Department of Radiology, Hospital Heliopolis, Sao Paulo SP, Brazil; Resident, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM; Associated Physician, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM; Professor and Chairman, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM.
منابع مشابه
MRI Features of a Rare Entity -Cystic Leukoencephalopathy without Megalencephaly
Context: Cystic leukoencephalopathy without megalencephaly is a very rare entity in children, presenting clinically with non-progressive encephalopathy, normo or microcephaly, and early onset of severe psychomotor impairment. To date, fewer than 30 cases have been described. The association of this entity with bilateral sensorineural hearing loss has been reported previously in literature only ...
متن کاملVacuolating megalencephalic leukoencephalopathy with mild clinical course validated by diffusion tensor imaging and MR spectroscopy.
We report a case of presumed vacuolating megalencephalic leukoencephalopathy (VML) in a 5-year-old boy that was diagnosed when the patient was 34 months old. The patient presented clinically with megalencephaly and delayed onset of slowly progressive neurologic dysfunction. Serial MR imaging and biochemical analysis were performed to differentiate VML from other disease entities with megalencep...
متن کاملEffect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly.
Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath. Patients with CD have leukoencephalopathy and megalencephaly; clinically they show a variable course ranging from slow neurodegenerative course to no neurological development or rapid regression. Current treatment is sy...
متن کاملSyndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.
Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, alo...
متن کاملFamilial arteriopathic leukoencephalopathy: imaging and neuropathologic findings.
We present the clinical, imaging, and neuropathologic data for a family with an autosomal dominant, nonhypertensive, progressive cerebral arteriopathy and leukoencephalopathy. Clinical presentation was characterized by progressive dementia, gait abnormalities, and, in some, Parkinson-like symptoms. MR abnormalities, consisting of white matter T2 hyperintensities and cystic-appearing T1 hypointe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 66 2A شماره
صفحات -
تاریخ انتشار 2008