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Author

A. Olgaç

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Open access Sep 2026

A case of Krabbe disease presenting with hydrocephalus

It is emphasized that acute hydrocephalus can represent an uncommon but critical presenting feature of infantile Krabbe disease, particularly with consanguineous family history, and prompt metabolic evaluation including cerebrospinal fluid analysis and specific enzyme assays is essential for diagnosis.

Harun Yıldız, Abdullah Sezer, A. Olgaç · 0 citations
Aug 2026

A Newly Identified YIF1B Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.

This case broadens the mutational spectrum of YIF1B-related disease and highlights the distinctive clinical pattern of KABAMAS, with an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment.

Sabire Gokalp, A. Olgaç, Fehime Erdem Karapinar et al. · 0 citations

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