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First case of Meretoja syndrome in Jordan. A dystrophy that solved a mystery

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First Author: N.Al Raqqad JORDAN

Co Author(s):    M. Al Yarabi   M. Altarawneh   M. Al Raqqad              

Abstract Details

Purpose:

To present the first cases of Maretoja syndrome in Jordan, and to share how a corneal dystrophy can solve the mystery of bilateral facial palsy in a man with infective keratitis who has missed a diagnosis for 10 years.

Setting:

King Hussein Medical Center

Methods:

A 38 years old male patient was referred to our service to mange his left corneal infection. on examniation he was found to have bilateral facial palsy for 10 years that was undiagnosed and treated initially with steroids. corneal examination revelaed lattice dystrophy in both eyes. bilateral facial palsy, sixth nerve pasly, dry lax skin, cutaneous lesions on his back.

Results:

Corneal infection was treated and investigations were carried to confirm diagnosis. Genetic mapping looking for gelsolin gene was confirmed. Skin biopsy was taken. Family pedigree was plotted.

Conclusions:

Although meratoja syndrome is a rare entity, as this is the first description of the disease in a jordanian family. The presence of corneal lattice dystrophy led to the proper diagnosis and managment of the sequealea of amyloid depostiton.

Financial Disclosure:

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