Raine syndrome
Overview
A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
Symptoms
* Increased bone density * Infant death * Small head * Protruding eyes * Small nose * Flat midface * Enlarged gums * Cleft palate * Low set ears * Narrowed choanal passage * Underdeveloped lungs * Intracranial calcification * Respiratory distress * Thickened bones * Flared chest * Large fontanel * Short neck * Stillbirth * Retarded fetal growth
Treatment
* Treat the underlying cause, although treatment of Graves’ disease does not always improve ophthalmopathy, and radioactive iodine may make it worse; systemic steroids for acute flareups only * Prevent eye injury and discomfort with artificial tears and sunglasses; may patch eye while sleeping * Surgical decompression (in TAO and retrobulbar hemorrhage with acute optic neuropathy by direct compression or by increased intraocular pressure) * If due to infectious causes, appropriate directed systemic intravenous antibiotic therapy and/or surgical debridement * If due to noninfectious inflammation, administer systemic steroids or immunomodulating therapy, particularly if there is acute optic neuropathy * Incisional or excisional biopsy of orbital tumors