Adult presentation of gaucher disease: diagnostic and therapeutic challenges in a resource-limited setting
- 1University Medicine Unit, Colombo South Teaching Hospital
- 2University Haematology Unit, Colombo South Teaching Hospital
Abstract
Background Gaucher disease is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variant in GBA1, resulting in deficient glucocerebrosidase activity and accumulation of glycosylceramide-laden macrophages. It is most reported among the Ashkenazi Jewish population. Reported cases in Sri Lanka are rare and have largely been confined to the paediatric population, with adult presentations being exceptionally uncommon. Adult recognition may be difficult where specialist investigations and disease-specific therapies are difficult to access. Case presentation A 52-year-old Buddhist monk presented with generalized tonic-clonic epilepsy since 12 years of age presented after a further seizure while taking sodium valproate 500 mg daily. He also complained of abdominal discomfort and had a one-month history of mild cognitive impairment. On examination, he showed pallor, and splenomegaly without hepatomegaly or lymphadenopathy. Investigations revealed pancytopenia and 20 cm spleen with multiple low-attenuation splenic gaucheromas, an isolated lytic skull lesion, peripheral retinal bone-spicule-like pigmentation, and biclonal IgG-kappa paraproteins. Bone marrow examination showed macrophages morphologically consistent with Gaucher cells. Fluorometric dried-blood-spot testing demonstrated reduced beta-glucosidase activity of 0.67 nmol/hr/mL (laboratory reference interval 2.3–18.4). Confirmatory leukocyte or fibroblast enzyme testing, GBA1 analysis, PSAP analysis, and disease-specific biomarkers were unavailable in the country. No gaze palsy, oculomotor apraxia, ataxia, pyramidal signs, parkinsonism, or peripheral neuropathy was identified; The clinical phenotype classified as neuronopathic Gaucher disease with existing clinical evidence. Disease-specific therapy was considered at a multidisciplinary meeting but was not initiated because of patient preference, limited access, cost and uncertainty regarding benefit for the longstanding epilepsy. The patient continued symptomatic treatment with clinical and hematological surveillance. Discussion Gaucher disease is rare in adulthood. The disease may involve multiple organ systems, while ocular manifestations are uncommon. Close clinical follow-up is important for early detection of complications. The potential systemic benefits of treatment must be distinguished from its limitations for neurological disease. This case illustrates the challenges of recognizing, confirming and treating Gaucher disease in a resource-limited setting. Clinical trial number Not applicable.
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BibTeX
@article{wickramathunga2026adult,
title = {{Adult presentation of gaucher disease: diagnostic and therapeutic challenges in a resource-limited setting}},
author = {Palliya Guruge Chanurdi Kaveesha Wickramathunga and Mirihanagalle Kankanamalage Dona Anusha Lakmali and Kuranage Hiranthi Bernadene Perera Fernandopulle and Dammika Gunawardena and Anne Thushara Matthias},
journal = {Journal of Rare Diseases},
year = {2026},
month = oct,
doi = {10.1007/s44162-026-00250-x},
url = {https://doi.org/10.1007/s44162-026-00250-x},
note = {CC BY},
}
RIS
TY - JOUR
TI - Adult presentation of gaucher disease: diagnostic and therapeutic challenges in a resource-limited setting
AU - Palliya Guruge Chanurdi Kaveesha Wickramathunga
AU - Mirihanagalle Kankanamalage Dona Anusha Lakmali
AU - Kuranage Hiranthi Bernadene Perera Fernandopulle
AU - Dammika Gunawardena
AU - Anne Thushara Matthias
PY - 2026
DA - 2026/10/25
JO - Journal of Rare Diseases
DO - 10.1007/s44162-026-00250-x
UR - https://doi.org/10.1007/s44162-026-00250-x
AB - Background Gaucher disease is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variant in GBA1, resulting in deficient glucocerebrosidase activity and accumulation of glycosylceramide-laden macrophages. It is most reported among the Ashkenazi Jewish population. Reported cases in Sri Lanka are rare and have largely been confined to the paediatric population, with adult presentations being exceptionally uncommon. Adult recognition may be difficult where specialist investigations and disease-specific therapies are difficult to access. Case presentation A 52-year-old Buddhist monk presented with generalized tonic-clonic epilepsy since 12 years of age presented after a further seizure while taking sodium valproate 500 mg daily. He also complained of abdominal discomfort and had a one-month history of mild cognitive impairment. On examination, he showed pallor, and splenomegaly without hepatomegaly or lymphadenopathy. Investigations revealed pancytopenia and 20 cm spleen with multiple low-attenuation splenic gaucheromas, an isolated lytic skull lesion, peripheral retinal bone-spicule-like pigmentation, and biclonal IgG-kappa paraproteins. Bone marrow examination showed macrophages morphologically consistent with Gaucher cells. Fluorometric dried-blood-spot testing demonstrated reduced beta-glucosidase activity of 0.67 nmol/hr/mL (laboratory reference interval 2.3–18.4). Confirmatory leukocyte or fibroblast enzyme testing, GBA1 analysis, PSAP analysis, and disease-specific biomarkers were unavailable in the country. No gaze palsy, oculomotor apraxia, ataxia, pyramidal signs, parkinsonism, or peripheral neuropathy was identified; The clinical phenotype classified as neuronopathic Gaucher disease with existing clinical evidence. Disease-specific therapy was considered at a multidisciplinary meeting but was not initiated because of patient preference, limited access, cost and uncertainty regarding benefit for the longstanding epilepsy. The patient continued symptomatic treatment with clinical and hematological surveillance. Discussion Gaucher disease is rare in adulthood. The disease may involve multiple organ systems, while ocular manifestations are uncommon. Close clinical follow-up is important for early detection of complications. The potential systemic benefits of treatment must be distinguished from its limitations for neurological disease. This case illustrates the challenges of recognizing, confirming and treating Gaucher disease in a resource-limited setting. Clinical trial number Not applicable.
SN - 2731-085X
ER -