Medical First – Boy Born with Gaucher Disease and Kostmann Syndrome

According to an article at Gaucher Disease News, the first known case of a person with both Gaucher disease and severe congenital neutropenia was examined in a case study that was published by Blood Cells, Molecules, and Diseases last August.

The patient, now 3, was taken to the hospital at just four months, old after a history of serious infections. When he arrived he presented with anemia (low red cell count) and neutropenia (low count of neutrophils, a type of white blood cell). Based on the patient’s symptoms and family history, doctors were quick to suspect Gaucher disease – and began treating him with enzyme replacement therapy.

Though his anemia improved, his low neutrophil count did not. Bone marrow and gene analysis confirmed what doctors suspected but could scarcely believe – that the young child had both Gaucher disease and severe congenital neutropenia.

About Gaucher Disease

Gaucher disease is a rare, genetically inherited condition that affects a number of organs and tissues throughout the body, largely dependent on the type inherited. Type 1 Gaucher disease is the most common form, and likely the type diagnosed in that little boy.

Type 1, or non-neuronopathic Gaucher disease typically does not affect the brain or spine, meaning its physical effects are less drastic than those experienced by type 2 and 3 Gaucher patients. Liver and spleen enlargement are common identifiers, as is anemia. Some patients may experience easy bruising and bone conditions (e.g. arthritis, fragility) as well.

Type 2 and 3 are typically much more serious, as they affect the central nervous system – many with type 2 Gaucher disease do not survive infancy. Type 3 is also serious but tends to progress more slowly.

About Kostmann Syndrome

Kostmann syndrome is the much shorter and snappier name for severe congenital neutropenia (SCN). Neutropenia results in a low count of neutrophils in the bloodstream. Neutrophils are a type of white blood cell and serve sort of like the rank-and-file of the immune system. It plays an important part in fighting infections. As a result, people with Kostmann syndrome are prone to reoccurring infection.

Roughly one in five with SCN will develop certain blood cancers at some point in their life. Up to two in five will have noticeably decreased bone density, which can increase the likelihood and severity of a fracture.

The Odds of this All

About 1 in 100,000 people around the world have Gaucher disease. Severe congenital neutropenia is even rarer, affecting roughly 1 in 200,000. That means the probability of being born with both is astoundingly low – roughly one in 20,000,000,000. You’re almost ten times more likely to win the lottery and get attacked by a shark at some point in your life.

Despite such improbable luck, the young boy seems resilient. He has shown no neurological symptoms, prompting hopes that his conditions will be relatively manageable later in his life.


Scientists tend to be intrigued by statistical oddities. What might they be able to learn from such a rare medical occurrence? Share your thoughts with Patient Worthy!

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