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


1 Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran

2 Pediatric Heath Research Center, Tabriz University of Medical Sciences, Tabriz, Iran



Background: Tuberous sclerosis complex (TSC) and spinal muscular atrophy (SMA) are two inherited disorders, but 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, West Azerbaijan Province, Iran) 11-year-old daughter of non-consanguineous parents. She developed seizures as infantile spasms at the age of 3 months. She had a delay in motor development. At the age of 11 years, the patient had proximal muscle weakness resulting in a characteristic waddling gait and Gowers' sign that made a possible diagnosis of SMA. The diagnosis of SMA was then confirmed by 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, coincidentally. Further studies are needed to find the patterns of genetic inheritance of these diseases in the reported patient.