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Oculocerebrorenal Syndrome

OCR


Presentation

  • Congenital bilateral cataract is present at the birth in all patients. Renal Fanconi syndrome may present in the first months of life and differ in severity between individuals.[doi.org]
Short Stature
  • Other clinical manifestations include facial dysmorphism (frontal bossing, deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma[orpha.net]
  • Systemic Features: Mental retardation, hypotonia, short stature, and developmental delays are common. Seizures and behavior problems are seen in older children.[disorders.eyes.arizona.edu]
  • The renal tubular dysfunction, which causes loss of phosphate, acidosis, short stature, and renal rickets, may be treated by phosphate and bicarbonate replacement therapy.[contact.org.uk]
Weight Gain
  • Feeding and gastrointestinal concerns Slow weight gain may occur because of insufficient caloric intake. Gastroesophageal reflux, most common in infancy, may be seen at any age.[ncbi.nlm.nih.gov]
Inguinal Hernia
  • Poor abdominal muscle tone increases the risk for chronic constipation and the development of (predominantly inguinal) hernias.[ncbi.nlm.nih.gov]
Failure to Thrive
  • We discuss 5 boys with congenital cataracts, hypotonia, developmental delay, failure to thrive and the renal Fanconi syndrome who were diagnosed with the Lowe syndrome and in whom hypercalciuria was documented at diagnosis.[ncbi.nlm.nih.gov]
  • Symptoms - Lowe oculocerebrorenal syndrome * Mental retardation * Hypotonia * Hyperactivity * Choreoathetoid movements * Screaming * Blindness * Feeding difficulty * Failure to thrive * Blond hair * Chubby during younger years * Emaciation * Excess phosphates[checkorphan.org]
  • Impaired renal function, which consists of a proximal tubular dysfunction, is not always present at birth, but appears during the first year of life and manifests as failure to thrive.[renaltube.com]
  • Our case presented with bilateral congenital cataract, hypotonia, delayed milestones, history of frequent respiratory tract infection and low body weight (failure to thrive).[apicareonline.com]
  • Renal: If untreated, the proximal renal tubular acidosis leads to failure to thrive and metabolic collapse. By the second to third decade, gradual loss of creatinine clearance occurs, with progressive renal failure.[emedicine.com]
Miosis
  • Leukocoria, miosis, microphthalmos and a shallow anterior chamber has been noted in neonates. The cataractous lenses may be small and abnormally formed.[disorders.eyes.arizona.edu]
Muscle Hypotonia
  • Whether some of the bone disease is related to inactivity resulting from muscle hypotonia and immobilization in severely affected boys or to a primary defect in bone mineralization/molecular transport requires further study.[ncbi.nlm.nih.gov]
  • Muscle hypotonia The first clinical symptom is severe neonatal hypotonia, often in the absence of deep tendon reflexes [ 3, 21 ].[doi.org]
Broad Nasal Bridge
  • ., flat face, broad nasal bridge, large anterior fontanelle, & widely split sutures) SNHL Liver dysfunction Bony stippling (chondrodysplasia punctata) of patella(e) & other long bones may occur.[ncbi.nlm.nih.gov]
Hypertelorism
  • Intellectual abilities low-normal No hypotonia Donnai-Barrow syndrome LRP2 AR LMW proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, CKD 4 Cataract may be seen in juveniles w/Donnai-Barrow syndrome High myopia No congenital cataracts SNHL Hypertelorism[ncbi.nlm.nih.gov]
Large Anterior Fontanels
  • ., flat face, broad nasal bridge, large anterior fontanelle, & widely split sutures) SNHL Liver dysfunction Bony stippling (chondrodysplasia punctata) of patella(e) & other long bones may occur.[ncbi.nlm.nih.gov]
Areflexia
  • Abstract Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation, hypotonia, and areflexia.[doi.org]
  • Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures[medicalchemy-syndromes.blogspot.com]
  • Lowe oculocerebrorenal syndrome (OCRL) (MIM 309000) is a rare X-linked multisystem disorder characterized by congenital cataracts, muscular hypotonia, areflexia, mental retardation, maladaptive behavior, renal tubular dysfunction, vitamin-D-resistant[ncbi.nlm.nih.gov]
  • […] syndrome Lowe syndrome An X-R disorder that maps to chromosome Xq24-26 Clinical Congenital cataract, corneal ulceration, hydrophthalmia, glaucoma, mental retardation, renal tubular dysfunction-Fanconi syndrome, aminoaciduria, vitamin D-resistant rickets, areflexia[medical-dictionary.thefreedictionary.com]
  • Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate.[uniprot.org]
Neonatal Hypotonia
  • In addition to kidney dysfunction, children with LS have other impairments such as: • Intellectual disability; • Bone weakness (neonatal hypotonia); and • In male children, undescended testicles.[secure.ssa.gov]
  • Symptoms and Signs Affected individuals have congenital cataracts, glaucoma, corneal leukomas, renal failure, curved growth in subsequent years, and neonatal hypotonia. Causes It is caused by a gene mutation and mostly occur in males.[medigest.uk]
  • Nervous system : Neonatal hypotonia. Developmental delay, learning difficulties. Behavioural problems including aggresive outburst. Seizures in about 50% cases.[genetics4medics.com]
  • Children that are affected usually present with a weak muscle tone and the absence of reflexes since birth (also known as neonatal hypotonia and areflexia), which causes problems with feeding and breathing.[news-medical.net]
  • Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking.[ghr.nlm.nih.gov]
Hyporeflexia
  • Neurological features Hyporeflexia and hypotonia are usual features. 'Ragged red fibre' muscle pathology has been described.[patient.info]
  • In the first year of life intense hypotonia and hyporeflexia are observed, which are generally the first neurological manifestations. Up to 50% of the patients may have seizures.[renaltube.com]
  • Lowe reported the histories of three unrelated male infants (with photographs of two of them) who shared the distinctive characteristics of bilateral dense congenital cataracts, congenital glaucoma and “hydrophthalmos”, developmental retardation, hyporeflexia[flipper.diff.org]

Treatment

  • Glaucoma diagnosis and treatment were more variable.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment of OCRL includes early cataract extraction to avoid amblyopia, glaucoma control by either medications or surgery and postoperatively, eye glasses or contact lenses to improve visual function.[orpha.net]
  • Areflexia is a peculiar state, which does not require treatment. Seizures require treatment with drugs specific for the symptoms.[doi.org]

Prognosis

  • […] period for Lowe oculocerebrorenal syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Lowe oculocerebrorenal syndrome.[checkorphan.org]
  • Prognosis Quality of life depends on extent of neurological and renal manifestations.[orpha.net]

Etiology

  • Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • Etiology OCRL results from mutations in OCRL (Xq25), leading to phosphatidylinositol (4,5) bisphosphate accumulation. OCRL is involved in multiple intracellular processes including endocytic trafficking, actin skeleton dynamics and cell signaling.[orpha.net]
  • (Etiology) Lowe Syndrome is caused by mutations in the OCRL gene. This gene localizes on the X chromosome.[dovemed.com]

Epidemiology

  • Summary Epidemiology The estimated prevalence is 1/500,000 and males are almost exclusively affected.[orpha.net]
  • الصفحة 191 - The Framingham Eye Study Monograph: An ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. ‏[books.google.com]
  • The classical diagnostic triad includes: Congenital cataracts Neonatal or infantile hypotonia with subsequent mental impairment Renal tubular dysfunction progressing to chronic renal failure Epidemiology It is a rare condition that usually affects just[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.com]
  • Historical Perspective It is named after Charles Upton Lowe, who was the first to describe the condition. [1] [2] Classification Pathophysiology Mutation in the OCRL gene leads to membrane defects which results in inability of proximal tubular cells to[wikidoc.org]
  • Pathophysiology Lowe syndrome is caused by a mutation of the OCRL1 gene mapped to the chromosomal locus of Xq26.1. [2] The gene encodes a phosphatidylinositol (4,5) bisphosphate 5 phosphatase, localized to the trans-Golgi complex involved in actin polymerization[emedicine.com]
  • Mark Lewis and Soo-Jeong Kim, The pathophysiology of restricted repetitive behavior, Journal of Neurodevelopmental Disorders, 10.1007/s11689-009-9019-6, 1, 2, (114-132), (2009). Adnan Yuksel, Ender Karaca and M.[doi.org]

Prevention

  • Osteopaenia and pathological fractures should be prevented by correct treatment of rickets. Standardised therapies (including the use of a corset and, if necessary, surgery) are required to prevent scoliosis.[flipper.diff.org]
  • Some of these mutations prevent the production of any OCRL enzyme. Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell.[ghr.nlm.nih.gov]

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