Background Neuroimaging Gross Pathology Histopathology & Immunohistochemistry

BACKGROUND AND CLINICAL INFORMATION: Head

Also known as encephalofacial angiomatosis or encephalotrigerminal angiomatosis.

Characteristics: congenital angiomatosis which involves the skin of the face and cervical area, mucous membranes, meninges, and choroid of the retina. Usually unilateral.The skin lesions ("nevus flammeus" or “port wine stain") usually involves the territories of the sensory branches of the5th nerve, especially the ophthalmic branch. The gross and microscopic pathology depends on the age of the individuals.

Genetics: Sporadiac. No known hereditary factor but familial cases have been reported.

Clinical: manifestations of cortical damage include convulsions, mental defect, and hemiparesis or hemianopia on the side contra- lateral to the lesion. Symptoms usually onset within the first year of life.

Angioma in the choroid may lead to buphthalmos (in 70% of the cases) in infancy or to glaucoma in childhood.

Treatment: surgical resection should be considered within the first 6 months of life if the patient has intractable seizure.

NEUROIMAGING: Head

Curvilinear and double countoured calcifications of the damaged cortical layer "railroad track pattern" are pathogonomic in a child with facial nevus. The radiographic findings are usually absent at birth, but evolve throughout the first year of life.

GROSS PATHOLOGY: Head

GROSS PATHOLOGY: excessive vascularity of the meninges, the small veins being tortuousand increased in number. Calcification in the cortical layer under the hypervascular meninges.

Polymicrogyria and heterotopias may be found in the cerebellum and cerebrum.

Leptomeningeal vascular lesion is not found when the facial nevus lies exclusively below the level of the palpebral fissure. The probable explanation may be because the telencephalic leptominges and the dermis of the skin of the upper face arise from the same level of the neurocrest (mesoectoderm) wheres in the posterior brain and spinal cord leptomeninges arise from mesoderm.

HISTOPATHOLOGY AND IMMUNOHISTOCHEMISTRY: Head

Histology: blood vessel walls are encrusted with deposits of iron and calcium, and calcific granular deposits of varying size lie freely in the parenchyma. The abnormal blood vessels are found in the subarachnoid space and has an average diameter of about 140 micron.

Neuronal loss tends to increase with age and can be severe. There is usually subpial gliosis.

Ophthalmic pathology: Diffuse cavernous hemangioma of the uveal tract.

NeuroLearn NeuroHelp Malformations For Comment: KarMing-Fung@ouhsc.edu

Background Neuroimaging Gross Pathology Histopathology & Immunohistochemistry