Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review.
Cavernous angioma
Genetics
Intracranial
Klippel-Trenaunay-Weber
RASA1
Journal
World neurosurgery
ISSN: 1878-8769
Titre abrégé: World Neurosurg
Pays: United States
ID NLM: 101528275
Informations de publication
Date de publication:
Jun 2019
Jun 2019
Historique:
received:
07
02
2019
revised:
12
03
2019
accepted:
13
03
2019
pubmed:
25
3
2019
medline:
14
1
2020
entrez:
26
3
2019
Statut:
ppublish
Résumé
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome characterized by the triad of cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. Clinical manifestations, genetic testing, and radiologic imaging are the key steps in diagnosing this syndrome. An 18-month-old boy was brought for follow-up brain magnetic resonance imaging (MRI) with a history of right lower limb hypertrophy, cutaneous varicosities, and hemangiomas diagnosed at birth. A baseline MRI at 12 months revealed multiple hemorrhagic lesions within the cerebrum, the largest in the right temporal lobe, which was treated surgically at the age of 18 months because of its rapid growth. This is the youngest patient with KTWS treated surgically for intracranial hemangiomas. KTWS is a rare disease with a wide range of manifestations. Multisystemic evaluation of this group of patients should be performed to identify cavernous hemangiomas at the early stage of life and adequately treat them in the future. Treatment of KTWS patients with cavernous hemangiomas should not be different from the treatment of patients with any other hemangiomas, and surgical intervention should be considered on a case-to-case bases.
Sections du résumé
BACKGROUND
BACKGROUND
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome characterized by the triad of cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. Clinical manifestations, genetic testing, and radiologic imaging are the key steps in diagnosing this syndrome.
CASE DESCRIPTION
METHODS
An 18-month-old boy was brought for follow-up brain magnetic resonance imaging (MRI) with a history of right lower limb hypertrophy, cutaneous varicosities, and hemangiomas diagnosed at birth. A baseline MRI at 12 months revealed multiple hemorrhagic lesions within the cerebrum, the largest in the right temporal lobe, which was treated surgically at the age of 18 months because of its rapid growth. This is the youngest patient with KTWS treated surgically for intracranial hemangiomas.
CONCLUSION
CONCLUSIONS
KTWS is a rare disease with a wide range of manifestations. Multisystemic evaluation of this group of patients should be performed to identify cavernous hemangiomas at the early stage of life and adequately treat them in the future. Treatment of KTWS patients with cavernous hemangiomas should not be different from the treatment of patients with any other hemangiomas, and surgical intervention should be considered on a case-to-case bases.
Identifiants
pubmed: 30905648
pii: S1878-8750(19)30810-1
doi: 10.1016/j.wneu.2019.03.132
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
354-358Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.