Refsum-Thiebaut syndrome is a rare genetic disorder characterized by the accumulation of a fatty acid called phytanic acid in various tissues and organs of the body. It is named after the Norwegian neurologist Sigvald Refsum and the French pediatrician Jacques Thiebaut, who first described the condition in the 1960s.
This autosomal recessive disorder results from a mutation in the PHYH gene, which leads to impaired breakdown and elimination of phytanic acid. Phytanic acid is obtained through the diet, mainly from consuming foods derived from ruminant animals.
Individuals affected by Refsum-Thiebaut syndrome usually present with a range of symptoms that can include progressive vision loss (retinitis pigmentosa), dystonia (involuntary muscle contractions), peripheral neuropathy (nerve damage in the extremities), and hearing loss. Other common features may include a distinctive facial appearance, ataxia (loss of coordination), anosmia (loss of the sense of smell), and skeletal abnormalities.
Treatment for Refsum-Thiebaut syndrome is primarily aimed at managing symptoms and preventing further accumulation of phytanic acid. This usually involves a strict diet low in phytanic acid and the use of medications that aid in its elimination. Additionally, regular monitoring of visual and auditory function, as well as neurological assessments, is recommended to ensure appropriate management and support for affected individuals.
Overall, Refsum-Thiebaut syndrome is a complex disorder that requires a multidisciplinary approach for diagnosis, care, and ongoing management.
