confirmed case of Gaucher disease type-1 in an Omani patient

ABSTRACT

Gaucher Disease is a rare hereditary disorder, with small clusters among some ethnic groups mainly in Eastern Europe. The disease can be found in other parts of the world too. Due to the small number of cases, the non-specific symptoms, and signs, and the difficulty in obtaining confirmatory tests, some sporadic cases might be misdiagnosed, or discovered at later, stages, especially in areas where cases are infrequent, and no family members were previously diagnosed with the condition. Here I report the case of a young Omani female, who has a confirmed diagnosis of Gaucher disease