The NT5C2-related phenotype has earlier been clinically assigned to CP (MIM: 613162) and consanguineous marriage within the family we described has an important role in a genetic form of spastic CP. This defect is caused by a homozygous splice site donor alteration of possible interest in gene NT5C2. Any mutation in NT5C2gene cause Autosomal recessive spastic paraplegia type 45 (SPG45) is a rare, pure or complex form of hereditary spastic paraplegia characterized with early-onset progressive lower limb spasticity, leading to an abnormal gait, hyperactive reflexes, and extensor plantar responses. Complicating factors may include intellectual disability, delayed motor development, microcephaly, seizures, and foot deformities like clubfoot. Contractures, amyotrophy, and optic atrophy are also reported, and MRI may show a thin or dysplastic corpus callosum with periventricular white matter lesions.
NT5C2