Published 2009 | Version v1
Journal article

When we all investigate her, then we'll tell you what she is ..

Creators

  • 1. Klinika detskej neurologie LF UK a DFNsP, Bratislava (Slovakia)

Description

The author presents a case report of an 18-year-old girl. The first sign of the disease was infantile spasms at 5 months of life. After a long seizure-free period, partial epileptic seizures recurred in year 9. Skin changes on the face were found in year 5, later skin changes nevi that required surgical removal. The finding of left kidney angio lipoma in the 7th year was the cause of nephrectomy, angio lipomas however, they were also present in the right kidney and liver. By the 10th year, tumorous nodules were added in the myocardium. In CT and MR of the brain from infancy subependymal nodules and cortical nodules remain. Frequent epileptic seizures have caused a decrease in intellectual abilities. In the 18th year of life there are disease changes in the brain, skin, kidney, liver and myocardium. The course of the disease suggests that tuberous sclerosis is genetically determined multi systemic disease with variable clinical picture, the prognosis of which depends on the extent of involvement individual authorities. (author)

Additional details

Additional titles

Original title (Slovak)
Ked ju vestci vysetrime, potom vam povieme, co jej je...

Publishing Information

Journal Title
Pediatria Pre Prax (Online)
Journal Volume
10
Journal Issue
1
Journal Page Range
p. 39-40
ISSN
1339-4231

INIS

Optional Information

Notes
4 refs., 1 fig