Hereditary Neurocutaneous Angioma

At a glance

Phakomatoses characterized by multiple arteriovenous malformations that may cause intracranial or spinal hemorrhage with neurologic sequelae. Clinical features include spinal arteriovenous malformations with cutaneous hemangiomas.

Synonyms

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

Genetic inheritance

Autosomal dominant.

Pathophysiology

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

Diagnosis

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

Clinical aspects

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

Precautions before anesthesia

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.

Anesthetic considerations

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 must be treated immediately if present. Based on the preanesthetic evaluation and the potential risk of seizure postoperatively, the author believes that it might be appropriate to administer an antiepileptic agent intraoperatively. 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.

Pharmacological implications

No known specific implications with this condition.

Other conditions to be considered

• ☞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-Weber 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.

References