Mucopolysaccharidosis type IVA and neurogenic bladder in chi
An 18-year-old male went to several hospitals with a complaint of bedwetting over the previous 15 years, and nocturnal enuresis was suspected. The patient was a first-born child, and he did not have a history of birth asphyxia; his consanguineous parents were healthy, without a family history of inherited diseases. At the age of 3, although he was trained to use the toilet, he began to wet the bed, accompanied by frequent urination, urinary incontinence, progressive weakness in both lower limbs, and a waddling gait. At the age of 14, nocturnal enuresis became more remarkable, and he was not able to walk without support. Based on physical examination, the 2nd patient had a weight of 50 kg and a height of 152 cm (below the standard deviation of -3 SD in normal children of the same sex and age). He showed normal intelligence, with no deformed face, short neck, pectus carinatum, abnormal gait, kyphoscoliosis, breast uplift, or rib valgus. Neurological investigation revealed a sensory loss in the saddle region, loss of knee reflexes and plantar reflexes in the lower limbs, decreased anal reflex and cremasteric reflex, and motor weakness resulting in walking difficulty.

Based on ultrasonography of the urinary system, the size of the left kidney was 10.5 cm×6.8 cm, and the size of the right kidney was 10.2 cm×6.5 cm. The bladder size was 14.2 cm×8.5 cm×6.8 cm during the filling phase, and the bladder wall was thickened (1.12 cm thick) and rough. After the release of 80 ml of urine, the bladder size was 14.2 cm×7.6 cm×5.9 cm, and the thickness of the bladder wall was 1 cm. A plain film X-ray revealed lateral curvature of the thoracolumbar spine, flattening and irregular edges of the vertebral body, characteristic oar-shaped ribs, and the distal radius tilting towards the ulna. MRI of the lumbar spine revealed lumbosacral kyphosis at the L2-L3, L3-L4, L4-L5, and L5-S1 levels, disc protrusion, and cauda equina compression.

This case revealed that neurogenic bladder might occur in patients with Mucopolysaccharidosis IVA after spinal cord injury. Therefore, special attention should be paid to the analysis of clinical characteristics, enzyme activity, and genetic testing in children with atypical enuresis to exclude the possibility of potential Mucopolysaccharidosis IVA. Although this is the first report of the neurogenic bladder as a symptom of Mucopolysaccharidosis IVA, further studies should be performed to confirm the existence of other patients with this symptom to confirm it as another characteristic of Mucopolysaccharidosis IVA.