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JIMD Rep. 2015;15:67-70. doi: 10.1007/8904_2014_299. Epub 2014 Mar 25.

Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease.

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Department of Urology, Boston Children's Hospital, 300 Longwood Ave. Hunnewell 3, Boston, MA, 02115, USA,


Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creating a catheterizable stoma, using his appendix, to empty his bladder, and surgical findings were consistent with neurogenic bladder. He continues to be managed for his Gaucher disease and neurogenic bladder by genetics, nephrology and urology. This is the first clinical report of neurogenic bladder dysfunction in neuronopathic Gaucher disease.

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