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A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying

Cilt: 44 Sayı: 2 30 Haziran 2022
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A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying

Abstract

Introduction: Metachromatic leukodystrophy(MLD) is a rare inherited lysosomal disorder caused by autosomal recessive mutations in Arylsulfatase A(ASA) gene which encodes ASA enzyme. The disease is divided into late-infantile, juvenile and adult onset types according to the onset age.
Case: A 20 year-old female patient presented with continuous crying which started two days ago. She had generalized seizures for ten years, required two anti-epileptic drugs to control. Neurological examination revealed generalized spasticity with exaggerated deep tendon reflexes and extensor plantar responses. Her electroencephalogram showed paroxysmal cortical slowing without epileptic activities. Systemic examination and blood biochemistry was unremarkable. Brain magnetic resonance imaging (MRI) yielded abnormal findings, suggesting the diagnosis of MLD. ASA activity in the peripheral blood leukocytes was found to be decreased in a referral laboratory. Genetic examination revealed that the patient had a compound heterozygous mutation of I179S in the PSAP gene. The patient was discharged with partial improvement under quetiapine treatment.
Discussion and Conclusion: MLD is a progressive rare inherited disease caused by a deficiency in the enzyme activity of ASA. Inevitable neurological sequelae develop as the disease progresses. Generalized cortical atrophy and symmetrical extensive hyperintense signal changes in periventricular white matter on MRI, decreased activity of ASA and mutation in the PSAP gene confirm the diagnosis. In conclusion, we report a case with continous pseudobulbar crying, which can be the result of changes on MRI due to MLD.

Keywords

Destekleyen Kurum

Yok

Proje Numarası

Yok

Teşekkür

Yok

Kaynakça

  1. 1. Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther 2013;7: 729–745.
  2. 2. Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE. Neurodegenerative disorders of childhood. In: Kwon JM, editor. Nelson Textbook of Pediatrics. 19th ed. Philadelphia: WB Saunders; 2011. p. 2072.
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  6. 6. Kehrer C, Groeschel S, Kustermann-Kuhn B, et al. Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort. Orphanet J Rare Dis 2014;9(1):18.
  7. 7. Groeschel S, Dali C, Clas P, et al. Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. Neurology. 2012;79: 1662- 1670.
  8. 8. Michael V Johnson Neurodegenerative disorders of childhood. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: W.B. Saunders Company; 2008: 592- 598.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Yayımlanma Tarihi

30 Haziran 2022

Gönderilme Tarihi

21 Mart 2022

Kabul Tarihi

30 Haziran 2022

Yayımlandığı Sayı

Yıl 2022 Cilt: 44 Sayı: 2

DOI

https://doi.org/10.7197/cmj.1088934

IZ

https://izlik.org/JA96AJ86UZ

Kaynak Göster

RIS / Bibtex
AMA
1.Bolayır A. A Late Juvenile Onset Type Metachromatic Leukodystrophy Case Presenting With Continuous Pseudobulbar Crying. CMJ. 2022;44(2):228-232. doi:10.7197/cmj.1088934