Ocular Findings in Osteopetrosis

Abstract

P i c t u r e 1 . A Cl i n i c a l p h o t o g r a p h s h o ws b i l a t e r a l p r o p t o s i s i n a n o s t e o p e t r o s i s p a t i e n t . B : X-r a y o f h a n d s h o ws o s t e o s c l e r o s i s ( ma r b l e -b o n e a p p e a r a n c e ) o f me t a c a r p a l s wi t h a b s e n c e o f me d u l l a r yc a v i t y i n r a d i u s a n d u l n a . C & D: Ri g h t a n d l e f t e y e f u n d u s p h o t o g r a p h s h o ws ma r k e d p a p i ll o d e ma wi t h s o f t e x u d a t e s . Co mp u t e d t o mo g r a p h y s c a n s o f t h e b r a i n a n d o r b i t s h o wi n g , E : B i l a te r a l o p t i c c a n a l s t e n o s i s ( b l a c k a r r o w) a n d F : B i l a t e r a l o p t i c n e r v e s h e a t h d i l a t a t i o n ( wh i t e a r r o w) .

Neurological Manifestations as Presenting Feature of Osteopetrosis in Children; A Review of 11 Cases

“…Similarly, foramen jugular narrowing and venous drainage abnormalities can lead to intracranial hypertension throughout the course of the disease (9, 10). Visual disturbances are the most common cranial nerve dysfunction of osteopetrosis (12)(13)(14)(15) caused by optic nerve compression leading to enlargement of the subarachnoid space around the optic nerve and papilledema (16). Peripheral facial palsy, deafness and trigeminal neuralgia have the same pathophysiology as optic nerve involvement, therefore, cannot be recovered or stabilized with procedures that reduce intracranial hypertension and visual disturbances.…”