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Phakomatoses characterized by multiple arteriovenous malformations that may cause intracranial or spinal hemorrhage with neurologic sequelae.

Angioma Hereditary Neurocutaneous; Disseminated Hemangiomatosis; Spinal Arterial Venous Malformations with Cutaneous Hemangiomas.

Autosomal dominant.

Multiple arteriovenous malformations affecting the central nervous system and other organs, which have a marked tendency to bleed.

Family history, clinical features, larger hemangiomas on the skin. MRI examination of central nervous system, cerebral angiography.

Multiple angiomas within the brain and spinal cord have a marked tendency to bleed, leading to paralysis, cerebral hemorrhage, epilepsy. Angiomas elsewhere can lead to gastrointestinal hemorrhage, hematuria. Large flat hemangiomas on the skin.

History of cerebral or spinal hemorrhage, full neurologic examination to define any preexisting deficit, radiologic examination of central nervous system to define presence of hemangiomas. History of seizures and bleeding from other systems (GI hemorrhage, hematuria). Obtain complete blood count, clotting screen ECG, chest radiograph. Cross-matched blood must be available.

Neurologic surgery: May present with cerebral hemorrhage and raised intracranial pressure or sudden paralysis. More than one cerebral or spinal arteriovenous malformation may be present, thereby increasing chance of major hemorrhage. Postoperative focal seizures. Nonneurologic surgery: Careful control of blood pressure to reduce risk of cerebral hemorrhage. Spinal hemangiomas may be present, so central nerve blockade should be used with great caution. Careful positioning of the patient with large cutaneous hemangiomas is necessary.

No known specific implications with this condition.

Von Hippel Lindau Syndrome: Hereditary phakomatosis characterized by multiple angiomas. Autosomal dominant; gene map locus is 3p25-26.

Hereditary Telangiectasia: Autosomal dominant syndrome characterized by the presence of spinal hemangioma and multiple telangiectasias of the skin and the oral, nasal, and gastrointestinal mucous membranes.

Klippel-Trenaunay Syndrome: Congenital malformation of unknown origin characterized by the presence of spinal hemangiomas and the association of soft tissue and bony hypertrophy, venous malformations, lymphatic abnormalities, and cutaneous capillary malformations.

Leblanc R, Melanson D, Wilkinson RD: Hereditary neurocutaneous hemangiomatosis. Report of four cases. J Neurosurg 85:1135, 1996.  [PubMed: 8929507]

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