Abstract
Van der Knaap Hastalığı, çok ender görülen bir megalensefalik lökoensefalopati formudur. İnfantil başlangıçlı makrosefali en sık başvuru şekillerinden birisidir. Tipik klinik ve radyolojik bulguların varlığında, MLC1 ve MLC2A mutasyonlarının gösterilmesi ile tanı konulmaktadır. Bizim olgumuz baş çevresi büyüklüğü nedeniyle 1.5 yaşında hastanemize başvurdu. Soygeçmişinde ebeveynler arasında akrabalık öyküsü yoktu. Beyin manyetik rezonans görüntülede (MRG) megalensefalik lökoensefelopati ile subkortikal kistler görüldüğü için Van der Knaap Hastalığı düşünüldü. Hastalığın tanısı için gönderilen MLC1 geni mutasyonu pozitif saptandı. Van der Knaap Hastalığı otozomal resesif bir hastalık olduğu için akrabalık öyküsü önemlidir. Akraba evliliği olmaması nedeniyle, bu olgu MLC1 mutasyonun Türk toplumunda görülme sıklığını göstermesi açısından değerli olabilir.
References
- 1. van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-34.
- 2. López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet 2011;88:422-32.
- 3. van der Knaap MS, Valk J, Barth PG, Smit LM, van Engelen BG, Tortori Donati P. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology 1995;37:679-86.
- 4. van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, et al. Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol 2010;67:834-7.
- 5. Unalp A, Uran Şahin N. Van Der Knaap Hastalığı: MRG ve MRS bulguları ile bir olgu sunumu. Turkiye Klinikleri J Pediatr 2007;16:202-5.
- 6. Teijido O, Casaroli-Marano R, Kharkovets T, Aguado F, Zorzano A, Palacín M, et al. Expression patterns of MLC1 protein in the central and peripheral nervous systems. Neurobiol Dis 2007;26:532-45.
Abstract
Van der Knaap disease is a very rare form of megalencephalic leukoencephalopathy. Infantile onset macrocephaly is one of the most common presentation forms. In the presence of typical clinical and radiological findings, the demonstration of mutations in MLC1 and MLC2 are diagnostic. Our case was admitted to hospital because of the increased size of head circumference at the age of 1.5 years. There was no history of consanguinity in the family. Megalencephalic leukoencephalopathy with subcortical cysts was seen on brain magnetic resonance imaging (MRI) and Van der Knaap disease was suspected. MLC1 gene mutation was positive. The family history of consanguinity is important in diagnosing Van der Knaap disease as it is an autosomal recessive disorder. Due to the fact that the parents were not related, this case may be valuable in terms of demonstrating the incidence of the MLC1 mutation in the Turkish population
References
- 1. van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995;37:324-34.
- 2. López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, et al. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet 2011;88:422-32.
- 3. van der Knaap MS, Valk J, Barth PG, Smit LM, van Engelen BG, Tortori Donati P. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology 1995;37:679-86.
- 4. van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, et al. Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Ann Neurol 2010;67:834-7.
- 5. Unalp A, Uran Şahin N. Van Der Knaap Hastalığı: MRG ve MRS bulguları ile bir olgu sunumu. Turkiye Klinikleri J Pediatr 2007;16:202-5.
- 6. Teijido O, Casaroli-Marano R, Kharkovets T, Aguado F, Zorzano A, Palacín M, et al. Expression patterns of MLC1 protein in the central and peripheral nervous systems. Neurobiol Dis 2007;26:532-45.
Details
| Other ID | JA48AS26KT |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 1, 2015 |
| Submission Date | June 1, 2015 |
| Published in Issue | Year 2015 Volume: 9 Issue: 2 |
The publication language of Turkish Journal of Pediatric Disease is English.
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