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Tuberous sclerosis complex: a review with a study of eight cases
A S Malik1, Z A Hussin, S R Shriwas
1Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.
The Medical Journal of Malaysia
|December 1, 1994
Summary
Tuberous sclerosis complex (TSC) is a rare genetic disorder. This study highlights seizures as the primary symptom in eight Malaysian patients, emphasizing the need for early diagnosis through high suspicion and examination.
Area of Science:
- Medical Genetics
- Neurology
- Dermatology
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
- It is characterized by the development of hamartomas in multiple organs.
- This review presents data from eight TSC cases managed at Hospital Universiti Sains Malaysia.
Observation:
- The average age of presentation was 53 months.
- Seizures were the most frequent presenting symptom, observed in all patients.
- A male to female ratio of 3:1 was noted, with a positive family history in 50% of cases.
Findings:
- All patients exhibited one or more characteristic skin lesions.
- Neurological involvement included multiple subependymal hamartomas (6 patients).
- Ocular (retinal hamartomas in 6 patients), cardiac tumors (2 patients), and renal angiomyolipomas (2 patients) were also observed.
Implications:
- Early diagnosis of TSC requires a high index of suspicion and thorough physical examination.
- Recognizing the diverse clinical manifestations is crucial for timely intervention.
- This case series contributes to understanding TSC epidemiology and clinical presentation in a Malaysian cohort.