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Tuberous sclerosis in children
1Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Insights
Tuberous sclerosis (TS) is a multisystem disorder affecting multiple organs. Early signs like hypopigmented macules and infantile spasms aid in timely diagnosis of this genetic disorder.
Area of Science:
- Pediatric Neurology
- Medical Genetics
Background:
- Tuberous sclerosis (TS) is a genetic disorder affecting multiple organ systems.
- Clinical manifestations vary widely, impacting the brain, skin, kidneys, and heart.
Purpose of the Study:
- To describe the clinical characteristics and family history of 18 pediatric patients with Tuberous Sclerosis.
- To identify early diagnostic indicators for Tuberous Sclerosis in children.
Main Methods:
- Retrospective review of 18 pediatric patients diagnosed with Tuberous Sclerosis.
- Comprehensive clinical evaluation including neurological, dermatological, and visceral assessments.
- Family history collection and genetic counseling considerations.
Main Results:
- The most common manifestations included seizures (infantile spasms, epilepsy), skin lesions, and intracranial calcifications.
- Mental retardation was significantly correlated with seizure frequency.
- Neoplasms were observed in the brain, heart, lungs, and kidneys.
- Early signs such as hypopigmented macules, intracardiac tumors, and infantile spasms were noted in younger patients.
- Six patients (33%) had a positive family history of TS.
Conclusions:
- TS presents with diverse clinical features, with seizures and skin lesions being most prevalent.
- Early identification of specific signs can facilitate prompt diagnosis and intervention.
- Thorough family studies are essential for genetic counseling in TS cases.
Abstract:
Tuberous sclerosis (TS) is a multiple-system disease involving the brain, skin, kidneys, heart and other visceral organs. There were 18 children with TS at our clinic, and complete studies of these patients and their families were performed. Male to female ratio was 11:7. Age at diagnosis was from 1 month to 18 years. Seizures (infantile spasm, generalized and partial epilepsy), skin lesions and intracranial calcifications were the most common clinical manifestations. Mental retardation was closely correlated with seizure attacks. Neoplasms of the brain, retina, heart, lung and kidneys were all encountered. Hypopigmented macules, intracardiac tumors and infantile spasms were usually the first signs in younger ages and can give hints of early diagnosis of TS. In total, six patients had positive family histories and one of them had non-penetrating parents. Detailed family studies are mandatory prior to genetic counseling.