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. 1975 May;38(5):500–504. doi: 10.1136/jnnp.38.5.500

Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual.

B T Troost, P J Savino, J C Lozito
PMCID: PMC492003  PMID: 168320

Abstract

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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