A Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report

Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation The patient was an Iranian (Urmia, East Azerbaijan Province, Iran) ۱۱-year-old daughter of non-consanguineous parents. She developed seizures as an infantile spasm at three months old. She had a delay in motor development. At ۱۱ years old, the patient had proximal muscle weakness resulting in a characteristic waddling gait and Gowers’ sign, which was suspected of SMA. The SMA was then confirmed using molecular analysis. Clinical examination of the patient revealed angiofibromas, shagreen patch, and hypopigmented spots on the skin; cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma in the brain; angiomyolipomas in the kidneys; and retinal hamartoma, which fulfilled the diagnostic criteria of TSC. Conclusion Although TSC and SMA are genetically independent disorders, they may rarely occur together in an individual, simultaneously. Further studies required to find the patterns of genetic inheritance of these diseases among the reported patient.

Keywords:

Child , Genetic disorders , Spinal muscular atrophy , Tuberous sclerosis complex