Olgu Sunumu

A case of Krabbe disease presenting with hydrocephalus

Cilt: 65 Sayı: 3 3 Eylül 2026
Ege Tıp Dergisi Kapak
Ege Tıp Dergisi
PDF İndir
TR EN

A case of Krabbe disease presenting with hydrocephalus

Öz

Krabbe disease, or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by deficiency of galactocerebrosidase (GALC) enzyme activity. While classic infantile presentation typically includes irritability, spasticity, and developmental regression, this report describes an atypical initial manifestation with acute hydrocephalus. A four-month-old female infant, born to consanguineous parents, presented with poor feeding, lethargy, hypotonia, and episodic staring. Physical examination revealed failure to thrive with normal head circumference. Neuroimaging demonstrated acute hydrocephalus and characteristic white matter abnormalities including T2 hyperintensities in the dentate nucleus and internal capsule. Cerebrospinal fluid (CSF) analysis showed significantly elevated protein levels. The diagnosis was confirmed through markedly reduced galactocerebrosidase activity (0.2 nmol/hour/mg protein; reference >0.3) and identification of a homozygous pathogenic variant in the GALC gene (c.908C>T p.Ser303Phe). This case emphasizes that acute hydrocephalus can represent an uncommon but critical presenting feature of infantile Krabbe disease. In infants with unexplained neurological deterioration and hydrocephalus, particularly with consanguineous family history, prompt metabolic evaluation including cerebrospinal fluid analysis and specific enzyme assays is essential for diagnosis. Early identification remains crucial for considering potential therapeutic interventions, including hematopoietic stem cell transplantation.

Anahtar Kelimeler

Etik Beyan

For the study titled "A Case of Krabbe Disease Presenting with Hydrocephalus," ethical committee approval was not required as it is a case report. Patient consent was obtained.

Kaynakça

  1. 1. Maghazachi AA. Globoid Cell Leukodystrophy (Krabbe Disease): An Update. Immunotargets Ther 2023;12:105-11.
  2. 2. Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, et al. Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases. Genet Med 2019;21(10):2208-15.
  3. 3. Wenger DA, Luzi P, Rafi MA. Advances in the Diagnosis and Treatment of Krabbe Disease. Int J Neonatal Screen 2021;7(3):57.
  4. 4. Wenger DA, Luzi P, Rafi MA. Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? Mol Genet Metab 2014;111(3):307-8.
  5. 5. Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis 2018;13(1):30.
  6. 6. Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, et al. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med 2016;18(12):1235-43.
  7. 7. Rafi MA, Luzi P, Wenger DA. Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? Bioimpacts 2021;11(2):135-46.
  8. 8. Orsini JJ, Escolar ML, Wasserstein MP, et al. Krabbe Disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026 [updated 2018 Oct 11; cited 2025 Feb 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1238/

Ayrıntılar

Birincil Dil

İngilizce

Konular

Tıbbi Genetik (Kanser Genetiği hariç)

Bölüm

Olgu Sunumu

Yazarlar

Yayımlanma Tarihi

3 Eylül 2026

Gönderilme Tarihi

3 Kasım 2025

Kabul Tarihi

9 Haziran 2026

Yayımlandığı Sayı

Yıl 2026 Cilt: 65 Sayı: 3

DOI

https://doi.org/10.19161/etd.1816288

IZ

https://izlik.org/JA62WE29MS

Kaynak Göster

RIS / Bibtex
APA
Yıldız, H., Sezer, A., & Olgac, A. (2026). A case of Krabbe disease presenting with hydrocephalus. Ege Tıp Dergisi, 65(3), 616-619. https://doi.org/10.19161/etd.1816288
AMA
1.Yıldız H, Sezer A, Olgac A. A case of Krabbe disease presenting with hydrocephalus. ETD. 2026;65(3):616-619. doi:10.19161/etd.1816288
Chicago
Yıldız, Harun, Abdullah Sezer, ve Asburce Olgac. 2026. “A case of Krabbe disease presenting with hydrocephalus”. Ege Tıp Dergisi 65 (3): 616-19. https://doi.org/10.19161/etd.1816288.
EndNote
Yıldız H, Sezer A, Olgac A (01 Eylül 2026) A case of Krabbe disease presenting with hydrocephalus. Ege Tıp Dergisi 65 3 616–619.
IEEE
[1]H. Yıldız, A. Sezer, ve A. Olgac, “A case of Krabbe disease presenting with hydrocephalus”, ETD, c. 65, sy 3, ss. 616–619, Eyl. 2026, doi: 10.19161/etd.1816288.
ISNAD
Yıldız, Harun - Sezer, Abdullah - Olgac, Asburce. “A case of Krabbe disease presenting with hydrocephalus”. Ege Tıp Dergisi 65/3 (01 Eylül 2026): 616-619. https://doi.org/10.19161/etd.1816288.
JAMA
1.Yıldız H, Sezer A, Olgac A. A case of Krabbe disease presenting with hydrocephalus. ETD. 2026;65:616–619.
MLA
Yıldız, Harun, vd. “A case of Krabbe disease presenting with hydrocephalus”. Ege Tıp Dergisi, c. 65, sy 3, Eylül 2026, ss. 616-9, doi:10.19161/etd.1816288.
Vancouver
1.Harun Yıldız, Abdullah Sezer, Asburce Olgac. A case of Krabbe disease presenting with hydrocephalus. ETD. 01 Eylül 2026;65(3):616-9. doi:10.19161/etd.1816288

Ege Tıp Dergisi, makalelerin Atıf-Gayri Ticari-Aynı Lisansla Paylaş 4.0 Uluslararası (CC BY-NC-SA 4.0) lisansına uygun bir şekilde paylaşılmasına izin verir.