ASSOCIATION OF CYSTINOSIS WITH DUANE SYNDROME: A CEASE REPORT

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BAGHERI A.; PAKRAVAN M.; BEHDAD B.; FATEH MOGHADAM H.

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Journal: BINA Year:2013 | Volume:18 | Issue:4 (73) Page(s): 459-463

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Title

ASSOCIATION OF CYSTINOSIS WITH DUANE SYNDROME: A CEASE REPORT

Author(s)

BAGHERI A. | PAKRAVAN M. | BEHDAD B. | FATEH MOGHADAM H. | Issue Writer Certificate

Keywords

CYSTINOSISQ3

DUANE SYNDROMEQ3

RENAL FAILUREQ3

Abstract

Purpose: To report a case of CYSTINOSIS and idiopathic intracranial hypertention associated with DUANE SYNDROME type I.Case Report: A 15 years old girl and a known case of nephrotic CYSTINOSIS presented to eye clinic with complaints of lid fissure changes on horizontal gaze and headache since 6 months ago. She was obese and had short stature. She had history of kidney transplantation 6 years ago. On physical examination both eyes were orthophoric in primary position but limitation of movements in abduction, globe retraction and narrowing of the palpebral fissure in adduction was present slit lamp examination revealed deposition of cystine crystals in the conjunctiva and corneal stroma of both eyes. On fundus examination both optic discs had blurred margin and were edematous. In lumbar puncture (LP) intracranial pressure was high. One month after starting acetazolamide, the papilledema was decreased significantly and her headache improved. After 3 months the patient passed away because of metabolic problems in neurologic ward.Conclusion: Herein we report a rare case of concurrent CYSTINOSIS, bilateral DUANE SYNDROME type I and idiopathic intra cranial hypertention.

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