Tuberous Sclerosis: A Case Report and Review of the Literature

Abstract

Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) play a role and result in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs, and liver. This case report is about a four-year-old boy with facial angiofibromas, hypo-pigmented skin lesions on the lower back and dorsum of the right wrist, and previous history of seizures who was referred to the radiology department of the Korle Bu Teaching Hospital for Magnetic Resonance Imaging (MRI) of the brain. The MRI of the brain revealed subependymal giant cell astrocytomas, subependymal nodules, and cortical tubers. Ultrasonography of the abdomen also showed multiple angiomyolipomas and multiple simple cysts in both kidneys. The aim of this case report is to present the imaging findings and create awareness that this rare genetic disorder does exist in Ghana and advocate for formation of support groups for parents with children with tuberous sclerosis.

Incidental finding of tuberous sclerosis complex in a woman with hematuria: A case report of renal angiomyolipoma and review of the literature

“…Also, about two‐thirds of the cases are sporadic, which might explain the absence of family history or features suggestive of TS in any member of the family in this patient. 1 …”

“…Findings in TS that are part of the clinical diagnostic criteria are represented on Table 1 . 1 , 2 , 3 …”

“…Approximately half of the patients with TS have normal intelligence, seizures account in about 63%-78% of infants with TSC, and facial angiofibromas occur in about 75% of patients, with onset typically occurring between ages 2 and 5 years. [1][2][3] Authors discovered epilepsy in 71.2% of adult TSC patients in a study. 6 The classic triad of mental retardation, epilepsy, and facial angiofibroma, also known as the Vogt triad, occurs in only 29% of the cases, with 6% lacking all three of them.…”

“…Tuberous sclerosis (TS) is a rare autosomal dominant multisystem disorder that was described first by Von Recklinghausen and later by Desiree‐Magloire Bourneville. 1 The condition has a prevalence ranging from 1:6000 to 1:10000 live births and a population prevalence of 1:20,000. 2 , 3 Using the most recent diagnostic criteria, a study in Germany estimated the disease's incidence rate to range from 1:6760 to 1:13,520 live births.…”

“…Tuberous sclerosis complex 1 (TSC 1) or tuberous sclerosis complex 2 (TSC 2) are two genes linked to the formation of hamartomas in various organs of the body, including the brain, kidneys, skin, lungs, and liver. 1 Seizures, angiofibroma, and mental retardation are a part of classic triad of TS that is seen in only 29% of patients. 5 We describe the case of a 26‐year‐old female who presented with a complaint of hematuria in the emergency department of a tertiary care center in Nepal.…”