Challenges in the diagnosis of gaucher disease with multiple splenic lesions

The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient was discovered to have hepatosplenomegaly and...

Full description

Bibliographic Details
Published in:	Journal of Applied Hematology
Main Author:	Ahmad Alshomar
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2023-01-01
Subjects:	gaucher disease gaucheroma saudi arabia splenomegaly thrombocytopenia
Online Access:	http://www.jahjournal.org/article.asp?issn=1658-5127;year=2023;volume=14;issue=2;spage=171;epage=175;aulast=

Similar Items

Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia
by: Hussain H. Al Saeed, et al.
Published: (2024-02-01)

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma
by: Gianluca Bossù, et al.
Published: (2023-05-01)

Gaucher Disease for Hematologists
by: Gül Nihal Özdemir, et al.
Published: (2022-05-01)

A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy
by: Tianbo Zhang, et al.
Published: (2024-06-01)

GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
by: Andrea Pession, et al.
Published: (2023-06-01)

Management algorithms for gaucher disease
by: Ayman Alhejazi, et al.
Published: (2020-01-01)

Case Report: Clinical case analysis of gaucher disease management in a resource-limited setting: a single center experience from Kashigar, Xinjiang Uygur Autonomous Region, the Western China
by: Gulinuer Maimaititusvn, et al.
Published: (2025-09-01)

Gaucher Disease: A First Reported Adult Case in Indonesia
by: Ardhi Rahman Ahani, et al.
Published: (2024-04-01)

Gaucher Disease: A First Reported Adult Case in Indonesia
by: Ardhi Rahman Ahani, et al.
Published: (2024-01-01)

Gaucher Disease: One of the Few Causes of Massive Splenomegaly
by: Magda Garça, et al.
Published: (2022-12-01)

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
by: Didar Yanardağ Açık, et al.
Published: (2020-03-01)

Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report
by: Thomas Saliba, et al.
Published: (2023-05-01)

Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease
by: Jianfang Zhu, et al.
Published: (2023-03-01)

An Intriguing Case of Anaemia and Splenomegaly
by: Erika Poggiali, et al.
Published: (2014-10-01)

Splenomegaly as a Primary Manifestation of Gaucher Disease in a Young Adult Woman
by: Giuseppe Merra, et al.
Published: (2008-11-01)

Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy
by: Shoji Yano, et al.
Published: (2024-09-01)

Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data
by: Tatiana Raskovalova, et al.
Published: (2017-04-01)

Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease
by: Lagen Wan, et al.
Published: (2017-11-01)

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
by: Ozlem Goker-Alpan, et al.
Published: (2025-10-01)

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
by: Maja Di Rocco, et al.
Published: (2023-07-01)

Study of Adult and Pediatric Spanish Patients with Cryptogenic Splenomegaly and Splenectomy
by: Marta Morado Arias, et al.
Published: (2025-03-01)

Obstacles to Early Diagnosis of Gaucher Disease
by: Nishimura S, et al.
Published: (2025-01-01)

Gaucher's disease in children: Case report from Afghanistan with literature review
by: Turyalai Hakimi, et al.
Published: (2023-09-01)

Quantitative Imaging Study of Liver and Spleen Lesions in Patients with Gaucher Disease
by: LI Di, et al.
Published: (2022-07-01)

Gaucher Disease and Gaucher Cells
by: Sevgi Gözdaşoğlu
Published: (2015-05-01)

Rare MPIG6B Gene Mutation in an Indian Male with Anemia and Thrombocytopenia
by: Afaq Ahmad Khan, et al.
Published: (2022-11-01)

The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
by: Margarita M. Ivanova, et al.
Published: (2024-04-01)

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment
by: Patryk Lipiński, et al.
Published: (2024-06-01)

Gaucher's disease - a review of the most important information about the disease in Paediatrics
by: Jakub Jarmołowicz, et al.
Published: (2025-07-01)

Gaucher disease type 2 (case report)
by: D. R. Shagieva, et al.
Published: (2020-09-01)

Gaucher’s Disease – What Should You Know
by: Dominika Podgórska, et al.
Published: (2024-09-01)

Unusual presentation of adult Gaucher′s disease: A long and difficult road to diagnosis
by: Vishakha V Jain, et al.
Published: (2011-01-01)

Spanish consensus on managing pregnancy in women with Gaucher disease
by: Enrique J. Calderón, et al.
Published: (2025-03-01)

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?
by: Veroniki Komninaka, et al.
Published: (2023-11-01)

A case of bony lytic lesions in a patient with Gaucher disease
by: Eric McGinnis, et al.
Published: (2019-09-01)

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
by: Marcio Andrade-Campos, et al.
Published: (2017-05-01)

An Overview of Gaucher Disease
by: Daniela Anahí Méndez-Cobián, et al.
Published: (2024-12-01)

Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease
by: Burcu Berberoğlu-Ateş, et al.
Published: (2019-06-01)

TUBERCULOSIS SACROILITIS WITH COXITIS IN THE PATIENT SUFFERING FROM GAUCHER DISEASE
by: V. A. Khomenko, et al.
Published: (2018-09-01)

A Case of Adult Type 1 Gaucher Disease Complicated by Temporal Intestinal Hemorrhage
by: Junitsu Ito, et al.
Published: (2013-08-01)