Miranda NG, Carrasco VH, Ortega PF

Language: Spanish
References: 6
Page: 41-44
PDF size: 181.96 Kb.

ABSTRACT

Introduction. The tuberous sclerosis, also called Bourneville’s disease, is a neurocutaneous disorder which principal characteristic is the formation of hamartomas in several places, among them: skin, brain, the eyes and kidneys. Turning out to be a combination of symptoms, among which they find convulsions, delays in the development, problems of conduct, abnormalities of the skin and renal diseases. Here we do the description of a family (father and two daughters) those who suffer the above mentioned dermatological injuries but only the major daughter develops epilepsy and autism features, without any other complication to the moment.
Case report. Patient 42-year-old who alone presents dermatological nasal injuries in leaf of ash-tree of brown color as 14-year-old minor daughter; the 17-year-old major, feminine daughter of age, presents the same dermatological injuries, but aggravated the picture for presenting also convulsive crises; it joins the fact that, although she has been present at schools of normal education, she has presented badly school utilization, for alone what she counts with the first year of primary education, aggressiveness, irrational and autism conducts and with images with tumors so called hamartomas (tuberes) demonstrated in the nuclear magnetic resonance of encephalon. Nowadays with anti-epileptic treatment with base in valproic acid and phenytoin; renal USG is realized to three members cystic injuries being demonstrated.

REFERENCES

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