Von-Hippel-Lindau Syndrome
• It is characterized by hemangioblastomas of the retina and cerebellum.
• It is often characterized by spinal cord angioma and cystic lesions of other organs.
• It is autosomal dominant.
Clinical findings
• Some of the patients have polycythemia. Polycythemia resolves with removal of the cerebellar tumor.
• There may be cystic lesions in the internal organs (especially in the pancreas, liver and epididymis).
• The incidence of renal tumors and pheochromocytoma has increased. Renal carcinoma is the most common cause of death.
Linear Nevus Syndrome
• It is a disease characterized by facial nevus and neurodevelopmental anomaly.
• Nevus tend to settle in the midline, such as the forehead and nose.
• Cortical dysplasias, glial hamartomas and low grade gliomas may accompany this syndrome.
• Hemimegalaencephaly and enlargement of the lateral ventricles are important for radiographic identification and identification of the disease.
• Epilepsy and mental retardation are seen in most of the cases.
PHACE Syndrome
P: Posterior fossa malformations (most common Dandy-Walker anomaly)
H: Hemangiomas (percent)
A: Arterial anomalies (carotid aneurysm, aberrant left subclavian artery)
C: Coartation (aortic coartation)
E: Eye (eye anomalies; glaucoma, cataract, microphthalmia, optic nerve hypoplasia)
