Phakomatoses characterized by multiple arteriovenous
malformations that may cause intracranial or spinal hemorrhage with
Angioma Hereditary Neurocutaneous; Disseminated
Hemangiomatosis; Spinal Arterial Venous Malformations with Cutaneous
Multiple arteriovenous malformations affecting the
central nervous system and other organs, which have a marked tendency to
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
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
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