Gaucher Disease

A March 2000 paper by Verghese et al. (Archives of Neurology 57:389) described the illness of a six year old girl:

At 1 year of age, stridor developed that was worse during sleep.  Splenomegaly was noted at 18 months.  At 2 years of age, her parents reported frequent falls and a wide-based gait.

She wasbelow the third percentile for height and had mild anemia and thrombocytopenia.  Head circumference was normal. 

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together.  The software suggests a very high likelihood that the diagnosis is Gaucher disease type 3, which indeed was diagnosed at 28 months by finding Gaucher cells in the marrow and low beta glucosidase in skin fibroblasts.  There were characteristic bone findings (not used in the analysis above):

A skeletal survey revealed an Erlenmeyer flask deformity of the femur.

Further findings appeared:myoclonic jerks at 3 years and at 4 years, seizures were noted and oculomotor apraxia was documented.  Adding the additional findings makes the case for the diagnosis of Gaucher disease type 3 even stronger, as shown here (marrow and fibroblast test information not included).

Dr. Isabelle Rapin, the senior author of the paper, adds that the patient "had the worst myoclonus I have ever seen, and pathology limited to the dentate nucleus of the cerebellum, which was essentially wiped out" and points out that "it is not neuronal storage, which does not exist, but cell loss that accounts for the neurogenic symptoms".

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.