Clinical and genetic features of concomitant IVA type Mucopo
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Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and multiple organ damage have been reported. The aim of the present study is to report two cases of nocturnal enuresis finally diagnosed as neurogenic bladder in MPS IVA.

Case 1: A 10-year-old male with nocturnal enuresis was admitted to the hospital. At the age of 6, the patient began showing weakness in both lower limbs, and progressive aggravation forced him to use a wheelchair. At the age of 9, the patient began to wet the bed with frequent urination, incontinence and delayed urination during the daytime. He showed pectus carinatum, breast uplift, rib valgus, and poor mobility. Neurological investigation revealed sensory loss in the sacral area, muscle weakness, and decreased knee reflexes and plantar reflexes in the lower limbs. The anal reflex and cremasteric reflex were present.

Echocardiography revealed tricuspid regurgitation. MRI of the lumbar spine showed lumbar kyphosis at the L1-L2 level, stenosis of the spinal canal, disc protrusion, nerve compression due to cauda equina and a position inclining backward.

Case 2:
An 18-year-old male, went to several hospitals with a complaint of bed wetting over the previous 15 years, and nocturnal enuresis was suspected. At the age of 14, nocturnal enuresis became more remarkable, and he was not able to walk without support. Patient showed short neck, pectus carinatum, abnormal gait, kyphoscoliosis, breast uplift or rib valgus. Neurological investigation revealed 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.

In addition, the terminator codon mutation c.1567T more than G (p.X523E) and a novel missense mutation c.575A more than G (p.E192G) were found in the coding region of the GALNS gene of the 1st patient, while the missense mutation c.488C more than A (p.P163H) was found in the coding region of the GALNS gene of the 2nd patient.

It was concluded that after spinal cord injury, patients with MPS IVA can develop a neurogenic bladder. In patients with atypical enuresis and skeletal abnormalities, screening for the diagnosis of MPS IVA through the examination of clinical features, enzyme activity and genetic testing is appropriate.

Source: https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-020-02484-0#Fig1
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