Toddler Becomes Youngest Patient to Develop Gaucheroma While on Enzyme Replacement Therapy, Case Study Reports

Toddler Becomes Youngest Patient to Develop Gaucheroma While on Enzyme Replacement Therapy, Case Study Reports

A 15-month-old boy has become the youngest reported patient with Gaucher disease to develop multiple benign accumulations of Gaucher cells — called a Gaucheroma — after starting on enzyme replacement therapy (ERT), a case study reports.

The research, “Very rare condition of multiple Gaucheroma: A case report and review of the literature,” was published in the journal Molecular Genetics and Metabolism Reports.

The boy was brought to the hospital for vaccination, and a physical examination revealed hepatosplenomegaly (enlarged liver and spleen). He had also been experiencing abdominal distension for two months, according to his mother.

His body height was below the third percentile, and his weight was within the third to 15th percentile for his age. He could not stand and only walked with assistance, having a mild delay in gross motor skills. Blood tests found anemia and thrombocytopenia (low platelet count).

Cell analysis in a tertiary center revealed a so-called “wrinkled-paper” cytoplasm — a characteristic Gaucher feature in the material filling the cells’ interior — in a subset of the boy’s immune cells. Enzymatic tests found reduced beta-glucocerebrosidase activity, and genetic tests revealed a mutation in both copies of the GBA gene, both indicative of Gaucher disease.

The diagnosis prompted the start of ERT with Cerezyme (imiglucerase, by Sanofi Genzyme) every two weeks. Six months later, the boy met therapeutic goals for Gaucher disease, with increased hemoglobin (the protein carrying oxygen in red blood cells) and platelets. Other benefits included reduced liver and spleen size. His liver went from 3.9-fold greater-than-normal size to 2.3-fold greater-than-normal size, and his spleen went from 24.3 times higher-than-normal size to 8 times bigger than normal.

However, after 19 months of treatment, an abdominal magnetic resonance imaging scan found a mass in the liver as well as enlarged lymph nodes within the mesentery — a membrane attaching the intestine to the abdominal wall — and in the inguinal region (groin).

A subsequent liver and lymph node biopsy, to better evaluate if the boy had a form of blood cancer, identified the Gaucheroma via confirmation of the cells’ abnormal interior. However, a bone marrow test showed fewer Gaucher cells than were found in the first test at diagnosis.

Because of the Gaucheromas, the dose of Cerezyme was then doubled from 60 to 120  IU/kg, but none of the Gaucheromas showed a reduction in size.

The scientists then reviewed all related cases in the literature. Among 20 patients, Gaucheroma developed within 1.3 to 17 years of starting the standard 60 IU/kg dose of ERT, which is later than when it started to develop in the boy.

“To the best of our knowledge, the current study presents the youngest reported patient of Gaucheroma, who have already received standing and regular ERT,” the researchers said.

“Regular imaging studies are recommended in [Gaucher disease] patients, due to the possibility of having a deteriorating change, like Gaucheroma and the higher risk of malignancy in patients,” they added.

José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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Inês holds a PhD in Biomedical Sciences from the University of Lisbon, Portugal, where she specialized in blood vessel biology, blood stem cells, and cancer. Before that, she studied Cell and Molecular Biology at Universidade Nova de Lisboa and worked as a research fellow at Faculdade de Ciências e Tecnologias and Instituto Gulbenkian de Ciência. Inês currently works as a Managing Science Editor, striving to deliver the latest scientific advances to patient communities in a clear and accurate manner.
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José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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