Tabatznik syndrome
Overview
A rare condition characterized by eye and skeletal problems
Symptoms
The list of medical symptoms mentioned in various sources for Berk-Tabatznik syndrome includes those listed below. Note that Berk-Tabatznik syndrome symptoms usually refers to various medical symptoms known to a patient, but the phrase Berk-Tabatznik syndrome signs may often refer to those signs that are only noticable by a doctor: * Optic atrophy * Spastic quadriparesis * Growth deficiency * Cervical kyphosis * Small distal phalanges * Hemivertebral wedging * Vertebral wedging * Short stature * Impaired vision * Impaired hearing
Diagnosis
Vision Loss: Differential Diagnosis (In a Page: Signs and Symptoms) Transient vision loss (24 hours: Sudden, painless Retinal artery or vein occlusion * Ischemic optic neuropathy (must rule out giant cell/temporal arteritis to prevent permanent bilateral vision loss) * Vitreous or aqueous hemorrhage (hyphema) * Retinal detachment * Other retinal or CNS disease (e.g., cortical blindness due to occipital lobe CVA) * Exposure (“Welder's flash”) or prolonged exposure to intense sunlight
Treatment
Vision Loss: Treatment (In a Page: Signs and Symptoms) * Treat underlying causes (e.g., brain tumor, carotid stenosis, cardiac valvular vegetations, hypotension) * Temporal arteritis: Systemic steroids * Nonarteritic ischemic optic neuropathy: Aspirin * Optic neuritis: Systemic steroids * Glaucoma: Topical antiglaucoma medications; peripheral iridotomy for angle closure * Retinal detachment: Surgical repair * Cataracts: Surgical removal * AV fistula: Embolize * Cavernous sinus thrombosis: Antibiotics, anticoagulation * Mucormycosis: Amphotericin B, debridement * Pituitary apoplexy: Systemic steroids, neurosurgical intervention * Herpes zoster: Systemic acyclovir * Tolosa-Hunt: Systemic steroid * Keratoconus/corneal hydrops: Cycloplegic, hypertonic (5%) NaCl ointment, corneal transplant