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2013•Nepalese Journal of RadiologyOpen access

Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report

Kiran Gangadhar, Sriram Patwari, Archana Verma, Kaviyarasy

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Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691

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Available abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare disease first described by van der Knaap et al, in 1995. MLC is a relatively new entity of neurodegenerative disorder of autosomal recessive inheritance characterized by infantile onset macrocephaly, cerebral leucoencephalopathy, mild neurological symptoms and an extremely slow course of functional deterioration. The degree of macrocephaly is variable and can be as much as 4-6 SD above the mean. Almost all patients have seizures from an early age. Some patients have died in their 2nd and 3rd decades but few may live till fourth decade. We report a case of 5-year-old girl diagnosed to have this disease. Nepalese Journal of Radiology; Vol. 2; Issue 2; July-Dec. 2012; 76-80 DOI: http://dx.doi.org/10.3126/njr.v2i2.7691

Key concepts: Macrocephaly, Leukoencephalopathy, Pediatrics, Medicine, Girl, Disease, Pathology, Psychology

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