Gaucher-Uganda v1.0: A Multimodal Clinical, Radiological, and Pathology Dataset of Type 1 Gaucher Disease in a Ugandan Pediatric Patient

Abstract

Gaucher-Uganda v1.0 is an open-access multimodal dataset comprising representative clinical, radiological, hematological, and histopathological images from the first reported case of Type 1 Gaucher disease in Uganda. The dataset was curated from a published case report of a 12-year-old female patient whose diagnosis was initially masked by recurrent malaria infections and delayed due to the rarity of Gaucher disease in sub-Saharan Africa. The dataset contains nine curated images encompassing clinical manifestations, gross pathology, bone marrow aspirates, histopathology, and radiographic findings. Specifically, it includes photographs demonstrating massive hepatosplenomegaly and the post-splenectomy specimen, Giemsa-stained bone marrow aspirates revealing characteristic Gaucher cells, hematoxylin and eosin (H&E) and Periodic Acid-Schiff (PAS)-stained histopathological sections, and an X-ray image demonstrating the classic Erlenmeyer flask deformity of the distal femur. Gaucher-Uganda v1.0 was developed to support medical education, rare disease awareness, digital pathology, radiology training, and exploratory computational pathology research. The dataset provides a unique opportunity to study the multimodal presentation of Gaucher disease within an underrepresented African population and contributes to ongoing efforts to improve the availability of publicly accessible rare disease datasets from low- and middle-income countries. Dataset Characteristics Dataset Version: v1.0 Total Images: 9 Clinical Images: 2 Bone Marrow Images: 2 Histopathology Images: 4 Radiological Images: 1 Diagnosis: Type 1 Gaucher Disease Patient Age: 12 years Sex: Female Country of Origin: Uganda Image Format: JPEG License: Creative Commons Attribution 4.0 International (CC BY 4.0) Ethics Statement Parental consent was obtained for publication of the case details, clinical images, and utilization of residual specimens for future research purposes. Authorization to access and utilize the laboratory specimens was granted by the Head of the Department of Pathology. Institutional ethical approval was not required for this published case report. Specimen Source All images were derived from archived clinical records, bone marrow aspirates, histopathology specimens, and radiological investigations performed at Mbarara Regional Referral Hospital (MRRH) and the Mbarara University of Science and Technology (MUST) Histopathology Laboratory, Uganda. Gaucher-Uganda v1.0 promotes open science and serves as a foundational resource for future studies in rare diseases, pediatric pathology, digital pathology, computational medicine, and artificial intelligence applications in healthcare.