ABSTRACT

Pruritus and pain are disturbing symptoms. They display similar pathogenetic and clinical characteristics and affect the quality of life significantly. However, it is unknown which affects the quality of life more adversely. Our aim is to determine which of the symptoms of pruritus and pain affects the quality of life more in negative way.

Fifty patients with functional pruritus (FP) and fifty patients with fibromyalgia syndrome (FMS) were included in the study. Visual analog scale (VAS) was used to measure the severity of pruritus and pain. The World Health Organization Quality of Life BREF-TR was used to evaluate the life quality of the patients.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless movements of hands and feet, congenital cataract, severe feeding difficulties, and failure to thrive. Physical examination at the age of 24 months revealed a body weight of 7350 g (-5.1 SDS). Length was 71 cm (-5.1 SDS) and head circumference 45 cm (-3.9 SDS). He had deep-set small eyes, frontal bossing, flat occiput, parietal prominence, bilateral congenital cataract, cryptorchid left testis, joint hypermobility, decreased muscle tone, and hyporeflexia. Biochemical analysis revealed the characteristic findings of renal Fanconi syndrome. Genetic analysis showed a novel pathogenic DNA variation (c.1528C>T) in exon 15 of the OCRL1 gene. Clinical findings and genetic analysis confirmed the diagnosis of OCRL syndrome.

Pain affects the life quality of individuals more negatively than pruritus. In the treatment of patients, it should not be only aimed to relieve their symptoms but also to improve their quality of life with holistic approach.