Ali Karadag1, Mehmet Senoglu2, Sevil Sayhan3, Lela Okromelidze4, Erik H Middlebrooks5. 1. Department of Neurosurgery, Menemen State Hospital, Izmir, Turkey. 2. Department of Neurosurgery, Health Science University, Tepecik Research and Training Hospital, Izmir, Turkey. Electronic address: mehmetsenoglu@hotmail.com. 3. Department of Pathology, Health Science University, Tepecik Research and Training Hospital, Izmir, Turkey. 4. Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA. 5. Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA; Department of Neurologic Surgery, Mayo Clinic, Jacksonville, Florida, USA.
Abstract
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: 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: 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.
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: 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: 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.