Abstract
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.
Competing interests: None declared
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Communicated by: Gregory M. Pastores, MD
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Synopsis
A case report of neurogenic bladder that had to be managed surgically, presenting as urinary retention in an 8-year-old boy with neuronopathic Gaucher disease.
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No external funding was secured for this study.
Conflict of Interest
Dr. McNamara, Jennifer Sullivan, and Dr. Nagaraj do not have any conflict of interest, financial or otherwise, to disclose.
Priya S. Kishnani has received research/grant support and honoraria from the Genzyme Corporation. Priya S. Kishnani is a member of the Pompe and Gaucher Disease Registry Advisory Board for Genzyme Corporation.
John S. Wiener served as a consultant for Eli Lilly & Co. in 2013.
This article does not contain any studies with human or animal subjects performed by any of the authors.
Contribution
Erin R. McNamara—responsible for analysis and interpretation of data and drafting the article or revising it critically for important intellectual content
Jennifer Sullivan—responsible for revising the article critically for important intellectual content
Shashi K. Nagaraj—responsible for revising the article critically for important intellectual content
Drs. John S. Wiener, Priya S. Kishnani—responsible for conception and design as well as revising the article critically for important intellectual content. Provided expertise in their respective fields of pediatrics
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McNamara, E.R., Sullivan, J., Nagaraj, S.K., Wiener, J.S., Kishnani, P.S. (2014). Neurogenic Bladder Dysfunction Presenting as Urinary Retention in Neuronopathic Gaucher Disease. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 15. JIMD Reports, vol 15. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_299
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DOI: https://doi.org/10.1007/8904_2014_299
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