Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher disease

Area of Science:

• Neurology
• Genetics
• Urology

Background:

• Neuronopathic Gaucher disease (nGD) presents with diverse somatic and neurological symptoms.
• Phenotypic variability in nGD complicates disease course prediction.
• Neurological sequelae range from oculomotor apraxia to severe convulsions.

Purpose of the Study:

• To report the first clinical case of neurogenic bladder dysfunction in a patient with neuronopathic type III Gaucher disease.
• To describe the diagnostic evaluation and management of bladder dysfunction in this context.
• To highlight a novel association between nGD and urinary retention.

Main Methods:

• Case report of an 8-year-old male with neuronopathic type III Gaucher disease.
• Clinical evaluation including renal bladder ultrasound, cystoscopy, and MRI.
• Surgical management of bladder dysfunction via creation of a catheterizable stoma.

Main Results:

• The patient presented with bladder dysfunction, inability to void completely, hypertension, and acute renal insufficiency.
• Imaging revealed marked hydroureteronephrosis secondary to urinary retention.
• Surgical findings confirmed a neurogenic bladder, with no anatomical obstruction or spinal abnormalities.

Conclusions:

• Neurogenic bladder dysfunction is a potential, previously unreported complication of neuronopathic Gaucher disease.
• Early recognition and multidisciplinary management are crucial for patients with nGD and bladder issues.
• This case expands the known spectrum of neurological manifestations in neuronopathic Gaucher disease.