Objective: To study the prevalence rate of tuberous sclerosis complex in autistic disorder.Methods: We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005–2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10: 1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.Findings: Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.Conclusion: The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome that affects almost all of the organs of the body, including the brain, heart, lungs, liver, and kidneys. Brain tumors in TSC patients include cortical tubers, subependymal nodules (SENs), and Subependymal giant cell astrocytomas (SEGAs). Seizures that occur in 92% of patients with TSC are an important cause of sudden deaths in them. Other organ involvement includes renal angiomyolipomas, lymphangioleiomyomatosis, cardiac rhabdomyomas, and cutaneous manifestations (hypomelanotic macules, angiofibroma, ungual fibromas, shagreen patch, and ‘, confetti’,skin lesions). There is a criterion for tuberous sclerosis complex that consists of 11 major and 6 minor clinical features that diagnosis occurs based on it. The best way for a definitive diagnosis of TSC in a patient is by using genetic tests and histopathology. Immunohistochemistry is a helpful method in confirming the diagnosis of brain tumors in TSC. Immunostaining of SEGA shows positivity for GFAP and S-100 protein while neurofilament and synaptophysin are negative. Ki-67, which indicates nuclear proliferation, has a low proliferation index in immunostain. In an aggressive tumor, hydrocephalus, rising intracranial pressure and focal neurologic deficit, surgery is a necessity and can improve outcomes. Brain and kidney involvement in this disease is life-threatening. Brain involvement in these patients can lead to extensive neuropsychological complications, so the aim of this study is a concise review of the variable manifestations of this disease with a focus on the histopathological findings of brain involvement.

Background: Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome.Case Presentation: In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabdomyoma detected in utero at 26 weeks was reported who subsequently had fetal demise at 31 weeks.Conclusion: Tuberous sclerosis is a rare genetic condition that mainly causes development of hamartomas. In tuberous sclerosis, a cardiac rhabdomyoma is the only sign that can be detected prenatally. In maternal tuberous sclerosis, fetal ECHO is advisable after 24 weeks. A pregnancy complicated by maternal or fetal tuberous sclerosis deserves careful observation and the fetus should undergo prenatal fetal Doppler echocardiography and if possible magnetic resonance imaging for evaluation of other fetal structures including brain and renal parenchyma, so that parents can be counseled regarding its future prognostic implications. Tuberous sclerosis can lead to poor fetal outcome including intrauterine fetal death; hence regular antenatal follow up is required. Genetic counseling is recommended for couples who have a family history of tuberous sclerosis and who want to have children. Prenatal diagnosis is available for families with a known gene mutation or history of this condition.

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) 11-year-old daughter of nonconsanguineous parents. She developed seizures as an infantile spasm at three months old. She had a delay in motor development. At 11 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.

Pulmonary involvement in tuberous sclerosis is very rare and seems to be associated with a more benign course. We present a 21-year-old woman with bilateral angiomyolipoma. She developed spontaneous pneumothorax which was successfully managed by tube thoracostomy. No recurrence of pneumothorax has been observed up to the present (4 years follow-up).