Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Omar Elghawy,William G Wilson,Alice Y Zhang,Ryan Duong,Eugene Y Shildkrot

doi:10.1155/2021/1345937

Abstract

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. We present a case of infantile Refsum disease in a child with retinitis pigmentosa-like ocular findings, sensorineural hearing loss, and self-resolving hepatic disease, who developed novel findings of macular edema refractory to carbonic anhydrase inhibitors. We describe management with a phytanic acid-restricted diet and combination docosahexaenoic acid, and cholic acid therapy, which helped to limit progression of her disease.

Highlights

Heredopathia Atactica Polyneuritiformis (Refsum disease) is a rare autosomal recessive disorder characterized by the accumulation of phytanic acid in the blood and tissues
A variant of this disease that occurs in children is infantile Refsum disease (IRD) which is biochemically, genetically, and clinically distinct from the adult form [1]
IRD is a mild Zellweger spectrum disorder characterized by retinitis pigmentosa-like fundi, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly [2]

Summary

Introduction

Heredopathia Atactica Polyneuritiformis (Refsum disease) is a rare autosomal recessive disorder characterized by the accumulation of phytanic acid in the blood and tissues. IRD is a mild Zellweger spectrum disorder characterized by retinitis pigmentosa-like fundi, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly [2]. The pathophysiology of IRD is driven by pathogenic variations in one of the 12 different genetic PEX genes that code for the biogenesis of peroxisomes [3]. This peroxisomal biogenesis abnormality leads to defective alpha-oxidation of dietary phytanic acid, a branched chain fatty acid present in meat, fish oils, and dairy products [3, 4]. Detection allowed systemic management of this patient with a phytanic acid-restricted diet and novel combination management with docosahexaenoic acid (DHA) and cholic acid

Case Presentation

Findings

Discussion