Management of Lowe syndrome: a case report

Abstract

Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterized by anomalies affecting the eyes, nervous system and kidneys.1-3 The disorder was first recognized by Lowe et al. in 1952, and described as a unique syndrome with organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. In 1954, renal Fanconi syndrome was recognized as being associated with Lowe syndrome and in 1965, a recessive X-linked pattern of inheritance was determined.2,4 Lowe syndrome is a very rare disease, with an estimated prevalence in the general population of 1 in 500,000. According to the Lowe Syndrome Association (LSA) in the USA, the estimated prevalence is between 1 and 10 affected males in 1,000,000 people, with 190 living in the year 2000. The Italian Association of Lowe Syndrome estimated that there were 34 Lowe syndrome patients (33 boys and one girl) living in Italy in the year 2005.2,4,5 It almost exclusively affects males.6 Physicians may not be familiar with Lowe syndrome due to its rarity.4

An Update on the Oculocerebrorenal Syndrome of Lowe: A Review Article

“…These cataracts might also be shown on prenatal ultrasound images (1,2). In case of delay in treatment, cataracts can cause nystagmus, amblyopia, and eventually blindness (2,5). Glaucoma occurs in 50-70% of patients and might occur ideologically at any age, usually in the first year of life (2,5,17,18).…”

“…In case of delay in treatment, cataracts can cause nystagmus, amblyopia, and eventually blindness (2,5). Glaucoma occurs in 50-70% of patients and might occur ideologically at any age, usually in the first year of life (2,5,17,18). The patients might also show corneal leukoma; nevertheless, all male children have visual impairments.…”

“…The first common neurological symptoms are hypotonia in the muscles, malnutrition, delayed motor development, hyporeflexia, and loss of deep tendon reflexes (2,9,18). Hypotonia might increase joint mobility, contraction, decreased movement, contraction, and osteoporosis; nonetheless, hypotonia might gradually improve with age (5). The patients show cerebellar hypoplasia, ventricular dilatation, Dementia, pachygyria, ectopic nervous migration, and cyst change in the brain (2,17).…”

“…The OCRL syndrome's name roots in the fact that the three main parts of the body are prominently preoccupied (i.e., eyes, brain, and kidney). Still, it is likely that musculoskeletal, gonad, skin, and connective tissues are also involved (4)(5)(6). This syndrome is a sex-linked disorder, the main features of which are the triad of renal tubular dysfunction, mental disability, and cataracts (1)(2)(3)(4)(5)(6).…”

“…Still, it is likely that musculoskeletal, gonad, skin, and connective tissues are also involved (4)(5)(6). This syndrome is a sex-linked disorder, the main features of which are the triad of renal tubular dysfunction, mental disability, and cataracts (1)(2)(3)(4)(5)(6). Other characteristics include growth retardation after birth with no dependence on kidney function, behavioral problems, stereotypic behavior, areflexia, severe muscular hypotonia, intellectual disability, recurrent pathologic bone fracture, nontender joint swelling, tenosynovitis, arthritis, debilitating palmar and plantar fibrosis, focal nodules, bone erosions, potassium loss, sodium loss, aminoaciduria, bicarbonaturia, low-molecular-weight (LMW) proteinuria, tubular dysfunction with slowly progressive renal insufficiency, and arthropathy (1,2,(7)(8)(9).…”