A case of Krabbe disease presenting with hydrocephalus

Harun Yıldız; Abdullah Sezer; Asburce Olgac

doi:10.19161/etd.1816288

TR EN

Hidrosefali ile başvuran bir Krabbe hastalığı olgusu

Abstract

Krabbe hastalığı veya globoid hücreli lökodistrofi, galaktoserebrosidaz (GALC) enzim aktivitesi eksikliğinin neden olduğu nadir, otozomal resesif geçişli bir lizozomal depo hastalığıdır. Klasik infantil başlangıç tipik olarak irritabilite, spastisite ve gelişim geriliği içerirken, bu olgu sunumu akut hidrosefali ile giden atipik bir ilk bulguyu tanımlamaktadır. Akraba anne babadan doğan dört aylık kız bebek beslenme güçlüğü, letarji, hipotoni ve epizodik sabit bakış şikâyetleriyle başvurdu. Fizik muayenede baş çevresi normaldi ve gelişme geriliği saptandı. Nörogörüntülemede akut hidrosefali ve dentat nükleus ile internal kapsülde T2 hiperintensitelerini içeren karakteristik beyaz cevher anormallikleri izlendi. Beyin omurilik sıvısı (BOS) analizinde protein seviyelerinin belirgin şekilde arttığı görüldü. Tanı, belirgin derecede azalmış galaktoserebrosidaz aktivitesi (0,2 nmol/saat/mg protein; referans >0,3) ve GALC geninde homozigot patojenik bir varyantın (c.908C>T p.Ser303Phe) saptanmasıyla doğrulandı. Bu olgu, akut hidrosefalinin infantil Krabbe hastalığının nadir fakat kritik bir başlangıç bulgusu olabileceğini vurgulamaktadır. Açıklanamayan nörolojik gerileme ve hidrosefalisi olan bebeklerde, özellikle akraba evliliği öyküsü varlığında, BOS analizi ve spesifik enzim testlerini içeren hızlı metabolik değerlendirme tanı için esastır. Erken tanı, hematopoietik kök hücre nakli de dâhil olmak üzere potansiyel terapötik müdahalelerin değerlendirilmesi için kritik önem taşımaktadır.

Keywords

Ethical Statement

“Hidrosefali ile başvuran bir Krabbe hastalığı olgusu” isimli çalışma için vaka sunumu olduğu için etik kurul onayı alınmamıştır. Hasta rızası alınmıştır.

A case of Krabbe disease presenting with hydrocephalus

Abstract

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.

Keywords

Ethical Statement

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.

References

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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. 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/

Details

Primary Language

English

Subjects

Medical Genetics (Excl. Cancer Genetics)

Journal Section

Case Report

Authors

Harun Yıldız ^*
0000-0002-1918-2575
Türkiye

Abdullah Sezer
0000-0003-3886-3808
Türkiye

Asburce Olgac
0000-0002-4989-221X
Türkiye

Publication Date

September 3, 2026

Submission Date

November 3, 2025

Acceptance Date

June 9, 2026

Published in Issue

Year 2026 Volume: 65 Number: 3

DOI

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

IZ

https://izlik.org/JA62WE29MS

Cite

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. EJM. 2026;65(3):616-619. doi:10.19161/etd.1816288

Chicago

Yıldız, Harun, Abdullah Sezer, and 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 (September 1, 2026) A case of Krabbe disease presenting with hydrocephalus. Ege Tıp Dergisi 65 3 616–619.

IEEE

[1]H. Yıldız, A. Sezer, and A. Olgac, “A case of Krabbe disease presenting with hydrocephalus”, EJM, vol. 65, no. 3, pp. 616–619, Sept. 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 (September 1, 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. EJM. 2026;65:616–619.

MLA

Yıldız, Harun, et al. “A Case of Krabbe Disease Presenting With Hydrocephalus”. Ege Tıp Dergisi, vol. 65, no. 3, Sept. 2026, pp. 616-9, doi:10.19161/etd.1816288.

Vancouver

1.Harun Yıldız, Abdullah Sezer, Asburce Olgac. A case of Krabbe disease presenting with hydrocephalus. EJM. 2026 Sep. 1;65(3):616-9. doi:10.19161/etd.1816288