Oculocerebrorenal Lowe syndrome: a literature review and two case reports

Santos, Maria Teresa Botti Rodrigues; Watanabe, M; Manzano, Felipe Scalco; Lopes, Carlos Renato; Masiero, Danilo

doi:10.1111/j.1754-4505.2007.tb01750.x

Cited by 15 publications

(12 citation statements)

References 2 publications

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“…Several case reports have documented dental anomalies in Lowe syndrome patients, including enamel hypoplasia, dysplastic dentin formation, and delayed tooth eruption, the latter being associated with eruption cysts [72]. Some patients develop gingival hyperplasia as a complication of anti-epileptic therapy.…”

Section: Clinical Manifestations and Managementmentioning

confidence: 99%

The oculocerebrorenal syndrome of Lowe: an update

2016

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Many patients develop a debilitating arthropathy. Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for the loss of enzyme function. Extensive research has demonstrated that OCRL-1 is involved in multiple intracellular processes involving endocytic trafficking and actin skeleton dynamics. This explains the multi-organ manifestations of the disease. Still, the mechanisms underlying the wide phenotypic spectrum are poorly understood, and we are far from a causative therapy. In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome and the cellular and physiological functions of OCRL-1.

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Section: Clinical Manifestations and Managementmentioning

confidence: 99%

The oculocerebrorenal syndrome of Lowe: an update

2016

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“…Renal rickets and osteomalacia due to renal dysfunction may lead to fractures, bone pain, and limited range of motion. Other clinical manifestations include facial dysmorphisms (frontal bossing, deep-set eyes, and protruding ears), dental malformation, superficial cysts, and failure to thrive5,6,7).…”

Section: Introductionmentioning

confidence: 99%

Lowe syndrome: a single center's experience in Korea

Kim

et al. 2014

Korean J Pediatr

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PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.MethodsThe clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution.ResultsThe mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period.ConclusionThis study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

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“…Lowe syndrome is an uncommon condition that occurs almost exclusively in male subjects. A variety of periodontal findings have been documented in patients affected by Lowe syndrome (25, 71, 88). These findings include excessive calculus, fibrotic marginal gingiva affecting the primary teeth, chronic gingivitis, periodontitis with severe bone loss, tooth mobility and widened periodontal ligaments.…”

Section: X‐linked Genetic Diseases and The Periodontiummentioning

confidence: 99%

Do X‐linked diseases affect periodontal health?

Chien¹,

Hart²

2012

Periodontology 2000

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Genetic factors play an important etiologic role in destructive periodontal diseases. There have been reports that sex chromosomes, especially disorders associated with the X chromosome, affect periodontal health. Although numerous X-linked diseases have been reported to be associated with various periodontal diseases, the association of gingivitis and/or periodontitis with these genetic syndromes should be considered tenuous and raises the question of whether the periodontal manifestation truly arises from an underlying X-linked genetic etiology. A brief overview of genetics in relation to sex chromosomes and putative X-linked genetic periodontal diseases is given.

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Oculocerebrorenal Lowe syndrome: a literature review and two case reports

Abstract: The present paper reviews the dental findings in oculocerebrorenal Lowe syndrome and presents two case histories. Reports of different patients are useful in order to enhance knowledge about the syndrome, because there are so many different oral manifestations.

Cited by 15 publications

References 2 publications

The oculocerebrorenal syndrome of Lowe: an update

The oculocerebrorenal syndrome of Lowe: an update

Lowe syndrome: a single center's experience in Korea

Do X‐linked diseases affect periodontal health?

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