An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

Autor: Alpay Alkan, Gulsen Kocaman, Marjo S. van der Knaap, Abdulkadir Koçer, Rukiye Kilicarslan, Gozde Eryigit, Talip Asil, Truus E.M. Abbink
Přispěvatelé: ALKAN, ALPAY, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Other departments, Pediatric surgery, NCA - Brain mechanisms in health and disease
Rok vydání: 2013
Předmět:
Male
Pediatrics
medicine.medical_specialty
Megalencephalic leukoencephalopathy with subcortical cysts
Late onset
Neuropsychological Tests
KOCAMAN G.
ERYIGIT G.
ABBINK T. E. M.
KILICARSLAN R.
Asil T.
Alkan A.
VAN DER KNAAP M. S.
KOCER A.
-An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts-
CLINICAL NEUROLOGY AND NEUROSURGERY
cilt.115
ss.1564-1566
2013
Leukoencephalopathy
Intellectual disability
medicine
Image Processing
Computer-Assisted
Humans
Megalencephaly
Cognitive decline
Neurologic Examination
Cerebellar ataxia
business.industry
Cysts
Macrocephaly
Headache
General Medicine
Middle Aged
medicine.disease
Magnetic Resonance Imaging
Hereditary Central Nervous System Demyelinating Diseases
Surgery
Neurology (clinical)
medicine.symptom
business
Biomarkers
Zdroj: Kocaman, G, Eryigit, G, Abbink, G E M, Kilicarslan, R, Asil, T, Alkan, A, van der Knaap, M S & Kocer, A 2013, ' An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts ', Clinical Neurology and Neurosurgery, vol. 115, no. 8, pp. 1564-1566 . https://doi.org/10.1016/j.clineuro.2013.01.024
Clinical Neurology and Neurosurgery, 115(8), 1564-1566. Elsevier
Clinical neurology and neurosurgery, 115(8), 1564-1566. Elsevier
ISSN: 0303-8467
Popis: Megalencephalic leukoencephalopathy with subcortical cysts MLC) is a rarediseasefirst describedbyvanderKnaap, et al. in1995 1]. The classic phenotype is characterized by early onset macroephaly and delayed-onset neurological deterioration. Patients evelop macrocephaly during the first year of life. After sevral years, there is evidence of slow neurological deterioration, ncluding gradual onset of cerebellar ataxia, spasticity, seizures, nd sometimes extrapyramidal findings; and usually late onset of ild cognitive decline. Several genotypic and phenotypic variaions have been described [2]. An atypical improving phenotype as a similar initial presentation without mental or motor regresion, followed by an improving clinical course:motor and cognitive unctions improve or normalize. Some patientswith the latter pheotype have intellectual disability that is stable with or without utism [2]. MLC is more commonly reported in communities having conanguineous marriages and in people of Indian descent from the grawal community [2]. It is an autosomal recessive disorder most ften due tomutations inMLCI gene,which are observed in approxmately 75% of patients with MLC, which is known as classic
Databáze: OpenAIRE
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