medigraphic.com
ISSN 1561-3119 (Electronic)

2020, Number 3

<< Back Next >>

Rev Cubana Pediatr 2020; 92 (3)

Clinical-epidemiological and evolutive diagnosis of leukodystrophy, megalencephaly and subtemporal cysts during breastfeeding

Vargas DJ, Garófalo GN, Novoa LLM, Bello CSM, Reyes BA

Language: Spanish
References: 21
Page: 1-10
PDF size: 423.52 Kb.


ABSTRACT

Introduction: Primary leukodistrophies are a group of hereditary disorders that affect in a predominant way the white substance of the brain. The term ´´primary leukodistrophies´´ unifies the diseases that affect the glial cells compromising myelin and the genetic based axon. They are a group of entities, more tan 30 nowadays, which are expanding due to the advances in magnetic resonance and genetics.
Objective: To contribute to the understanding of this rare disease with emphasis in the usefulness of its clinical knowledge and in the evolutive studies of images for diagnosis.
Case presentation: Female patient with macrocranea detected by the family at 3 months old. At the beginning, the family referred that the cephalic circumference grew quickly and from the second semester of life growing process was slower. The clinical assessment at first year of life proved a discreet difficulty for cephalic control; the patient tried to do support footsteps, and had a language of 3 to 4 words without any other affectation in the neurodevelopment. In the physical examination, she presented a cephalic circumference of 55 cm (higher than the two stantard deviations for the cronological age and sex).
Conclusiones: The clinical evolution was favorable jointly with the pattern of brain magnetic resonance that initially showed affectation in the white substance compatible with inespecific leukodistrophy and in the evolutive studies it was detected the presence of subtemporal cysts which allowed to diagnose this rare children disease. The patient received symptomatic treatment for spasticity, pedagogical support and control of the epileptic crisis.


REFERENCES

  1. van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. Lancet Neurol. 2012;11:973-85.

  2. López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, et al. Mutant Glial CAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. Am J Hum Genet. 2011;88:422-32.

  3. Boor PK, de Groot K, Waisfisz Q, Kamphorst W, Oudejans CB, Powers JM, et al. MLC1: a novel protein in distal astroglial processes. J Neuropathol Exp Neurol. 2005;64:412-9.

  4. Teijido O, Martínez A, Pusch M, Zorzano A, Soriano E, del Río JA, et al. Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts. Hum Mol Genet. 2004;13:2581-94.

  5. Schmitt A, Gofferje V, Weber M, Meyer J, Mössner R, Lesch KP. The brain-specific protein MLC1 implicated in megalencephalic leukoencephalopathy with subcortical cysts is expressed in glial cells in the murine brain. Glia. 2003;44:283-95.

  6. EstévezR, Elorza-VidalX, Gaitán-PeñasH, Pérez-RiusC, Armand-UgónM et al. Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective. Eur J Med Genet. 2018;61:50-6.

  7. Waldman AT. Leukodystrophies. Continnum. Lifelong Learning in Neurology. Child Neurol. 2018;24(1):130-49. doi: 10.1212/CON.0000000000000560.

  8. Ashrafi MR, Tavasoli AR. Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and manage. Brain Develop. 2017;39:369-85.

  9. Saini L, Chakrabarty B, Kumar A, Gulati S. A Mutation-Positive Child With Megalencephalic Leukoencephalopathy With Megalencephalic With Subcortical Cysts: Classical Imaging Findings. Pediatric Neurol. 2015;53:547-8.

  10. Reis F, Kido RYZ, Mesquita JA, Oshima MM, Montenegro MA. Megalencephalic leukoencephalopathy with subcortical cysts (MLC) – a case with clinical and magnetic resonance imaging (MRI) dissociation. Arq Neuropsiquiatr 2015;73(2):171-2.

  11. Zhang J, Liu M, Zhang Z, Zhou L, Kong W. Genotypic Spectrum and Natural History of Cavitating Leukoencephalopathies in Childhood. Pediatr Neurol. 2019 Jan: 8. pii: S0887-8994(18)31155-X.

  12. Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. Eur J Med Genet. 2015;58:71e-4.

  13. Hamilton E, Tekturk P, Cialdella F, van Rappard DF, Wolf MI, Yalcinkaya C, et al. Megalencephalic leukoencephalopathy with subcortical cysts. Characterization of disease variants. Neurology. 2018;90:e1395-e1403. doi:10.1212/WNL.0000000000005334.

  14. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM. Case definition and classification of leukodystrophies and eukoencephalopathies. Mol Genet Metab. 2015;114(4):494-500.

  15. Bugiani M, Dubey M, Breur M, Postma NL, Dekker MP. Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. Ann Clin Translat Neurol. 2017;4(7):450-65.

  16. Choi SA, Kim SY, Yoon J, Choi J, Park SS. A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. Ann Lab Med. 2017;37:516-21.

  17. Masuda T, Ueda M, Ueyama H, Shimada S, Ishizaki M. Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain. J Neurolog Sci. 2015;351:210-3.

  18. Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E. Vacuolitingmegalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet. 2000;66(2):733-9.

  19. Ben-Zeev B, Gross V, Kushnir T, Shalev R, Hoffman C. Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. J Child Neurol. 2001;16(2):93-9.

  20. Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatr Neurol. 2017;66:59-62.

  21. Dash PK, Raj DH, Sahu H. Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration. BMJ Case Rep. 2015;2015:bcr2015211921.




2020     |     www.medigraphic.com