Refsum disease  is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice. Presentation
Individuals with Refsum disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation or remission occur. Symptoms also include ataxia, scaly skin (ichthyosis), difficulty hearing, and eye problems including retinitis pigmentosa, cataracts, and night blindness. In 80% of patients diagnosed with Refsum disease, sensorineural hearing loss has been reported. This is hearing loss as the result of damage to the inner ear or the nerve connectIng ear to the brain. Cause
Refsum disease is a peroxisomal disorder caused by the impaired alpha-oxidation of branched chain fatty acids resulting in buildup of phytanic acid and its derivatives in the plasma and tissues. This may be due to deficiencies of phytanoyl-CoA hydroxylase or peroxin-7 activity. In general, Refsum disease is caused by PHYH mutations.PEX7 gene mutations can interrupt the peroxisomal transport of proteins as this gene codes for the peroxin 7 protein receptor.
infection of nose and nasopharynx - 70%
infection of palpebral conjunctiva - 15%

Diagnosis
History
Unilateral nasal obstruction
Epistaxis
Local pruritus
Rhinorrhea
Coryza (rhinitis) with sneezing
Post nasal discharge with cough
Foreign body sensation
History of exposure to contaminated water
Increased tearing and photo phobia in cases of infection of palpebral conjunctiva
On examination
Pink to deep red polyps
Strawberry like appearance
Bleeds easily upon manipulation
Diagnosis
confirmed by biopsy and histopathology - several round or oval sporangia and spores which may be seen bursting through its chitinous wall

Treatment
Surgical excision - wide excision with wide area electro-coagulation of the lesion base
Medical treatment is not so effective but treatment with a year-long course of dapsone has been reported
Recurrence is common

Epidemiology
Disease endemic in Chhattisgarh South India, Sri Lanka, South America and Africa. It is presumed to be transmitted by exposure to the pathogen when taking a bath in stagnant water pools where animals also bathe. References


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