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Year 2018, Volume: 9 Issue: 2, 41 - 43, 01.04.2018

Abstract

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References

  • Van der Knaap MS, Barth PG, Stroink H, Van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-34. [CrossRef]
  • Harbord MG, Harden A, Harding B, Brett EM, Baraitser M. Megalenceph- aly with dysmyelintion, spasticity, ataxia, seizures and distinctive neuro- physiological findings in two siblings. Neuropediatrics 1990; 21: 164-8. [CrossRef]
  • Schiffmann R, Van der Knaap MS. Invited article: An MRI based ap- proach to the diagnosis of white matter disorders. Neurology 2009; 72: 750-9. [CrossRef]
  • Imamura A, Orii KE, Mizuno S, Hoshi H, Kondo T. MR imaging and H-MR spectroscopy in a case of juvenile alexander disease. Brain Dev 2002; 24: 723-6. [CrossRef]
  • Brismar J, Brismar G, Gasgon G, Ozand P. Canavan disease: CT and MR imaging of the brain. AJNR 1990; 11: 805-10.
  • Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000; 66: 733- 9. [CrossRef]
  • Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-8. [CrossRef]
  • Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braver- man N, et al. GLIA Consortium. Disease specific therapies in leuko- dystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114: 527-36.[CrossRef]

An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts

Year 2018, Volume: 9 Issue: 2, 41 - 43, 01.04.2018

Abstract

Introduction: Megalencephalic leukoencephalopathy (MLC) is an uncommon neurodegenerative disorder affecting children. Common neurological findings include mental retardation, movement disorders related to cerebellar or extra-pyramidal dysfunction, macrocephaly, and epileptic seizures. Case Report: A 4-year-old male presented with sudden-onset generalized tonic–clonic seizure to the emergency department at our university hospital. After the patient regained consciousness, abnormal neurological signs including macrocephaly, dysarthria, ataxia, and spasticity were detected. There were convulsive episodes that were diagnosed as epilepsy in his past medical history. Macrocephaly had first been noticed when he was 7 months old. In his follow-up examination, brain magnetic resonance imaging (MRI) revealed primary giant subcortical cysts in the bilateral temporal and frontal regions in his coronal T1-weighted image. Written informed consent was taken from the patient’s parents.Conclusion: Emergency physicians and pediatricians should maintain a high index of suspicion for MLC when treating children with macrocephaly and epileptic seizures in the emergency department or outpatient clinics. In particular, they should be considered in the differential diagnosis of subcortical cysts on performing brain MRI. Moreover, the early and accurate diagnosis of MLC will lead to genetic advisory assistance to the families of patients

References

  • Van der Knaap MS, Barth PG, Stroink H, Van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-34. [CrossRef]
  • Harbord MG, Harden A, Harding B, Brett EM, Baraitser M. Megalenceph- aly with dysmyelintion, spasticity, ataxia, seizures and distinctive neuro- physiological findings in two siblings. Neuropediatrics 1990; 21: 164-8. [CrossRef]
  • Schiffmann R, Van der Knaap MS. Invited article: An MRI based ap- proach to the diagnosis of white matter disorders. Neurology 2009; 72: 750-9. [CrossRef]
  • Imamura A, Orii KE, Mizuno S, Hoshi H, Kondo T. MR imaging and H-MR spectroscopy in a case of juvenile alexander disease. Brain Dev 2002; 24: 723-6. [CrossRef]
  • Brismar J, Brismar G, Gasgon G, Ozand P. Canavan disease: CT and MR imaging of the brain. AJNR 1990; 11: 805-10.
  • Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000; 66: 733- 9. [CrossRef]
  • Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001; 68: 831-8. [CrossRef]
  • Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braver- man N, et al. GLIA Consortium. Disease specific therapies in leuko- dystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114: 527-36.[CrossRef]
There are 8 citations in total.

Details

Other ID JA26BJ33DT
Journal Section Case Report
Authors

Abdullah Solmaz This is me

Halil Kazanasmaz This is me

Mustafa Calik This is me

Publication Date April 1, 2018
Submission Date April 1, 2018
Published in Issue Year 2018 Volume: 9 Issue: 2

Cite

APA Solmaz, A., Kazanasmaz, H., & Calik, M. (2018). An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts. Journal of Emergency Medicine Case Reports, 9(2), 41-43.
AMA Solmaz A, Kazanasmaz H, Calik M. An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts. Journal of Emergency Medicine Case Reports. April 2018;9(2):41-43.
Chicago Solmaz, Abdullah, Halil Kazanasmaz, and Mustafa Calik. “An Unusual Case of Megalencephalic Leukoencephalopathy Together With Giant Subcortical Cysts”. Journal of Emergency Medicine Case Reports 9, no. 2 (April 2018): 41-43.
EndNote Solmaz A, Kazanasmaz H, Calik M (April 1, 2018) An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts. Journal of Emergency Medicine Case Reports 9 2 41–43.
IEEE A. Solmaz, H. Kazanasmaz, and M. Calik, “An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts”, Journal of Emergency Medicine Case Reports, vol. 9, no. 2, pp. 41–43, 2018.
ISNAD Solmaz, Abdullah et al. “An Unusual Case of Megalencephalic Leukoencephalopathy Together With Giant Subcortical Cysts”. Journal of Emergency Medicine Case Reports 9/2 (April 2018), 41-43.
JAMA Solmaz A, Kazanasmaz H, Calik M. An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts. Journal of Emergency Medicine Case Reports. 2018;9:41–43.
MLA Solmaz, Abdullah et al. “An Unusual Case of Megalencephalic Leukoencephalopathy Together With Giant Subcortical Cysts”. Journal of Emergency Medicine Case Reports, vol. 9, no. 2, 2018, pp. 41-43.
Vancouver Solmaz A, Kazanasmaz H, Calik M. An Unusual Case of Megalencephalic Leukoencephalopathy Together with Giant Subcortical Cysts. Journal of Emergency Medicine Case Reports. 2018;9(2):41-3.