Morquio A syndrome associated with bilateral hydroureteronephrosis and neurogenic bladder: a rare case report and review of the literature

Abstract Background Morquio syndrome is a lysosomal storage disorder that damages several organs due to mucopolysaccharide accumulation in cells and tissues. Here, we highlight a case of Morquiosyndrome associated with hydroureteronephrosis and neurogenic bladder. Case presentation An 8-year-old girl presented with a 5-year history of skeletal deformities, followed by urinary dribbling, nocturnal enuresis, and intermittent fever for the past 6 months. Physical examination revealed classical features of mucopolysaccharidosis, a suprapubic bulge, and lower limb weakness. Urine microscopy demonstrated pyuria. Abdominal ultrasonography showed bilateral gross hydroureteronephrosis with an overdistended bladder. Magnetic resonance urography confirmed bilateral gross hydroureteronephrosis with dilated, tortuous ureters. MRI of the whole spine revealed severe spinal canal stenosis at C2–3 and D10–11, along with platyspondyly. Enzyme assay demonstrated a markedly reduced level of N-acetylgalactosamine-6-sulfatase. Due to financial constraints, the parents declined spinal surgery. The patient was managed with clean intermittent self-catheterization (CISC) for neurogenic bladder. Conclusion Hydroureteronephrosis and neurogenic bladder are rarely associated with Morquio syndrome. Clinicians should be aware of this rare association with mucopolysaccharidosis. Given that early identification can greatly lower morbidity and death in these individuals. Spinal imaging is necessary in all the case of Morquio syndrome A.