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. [ncbi.nlm.nih.gov]

Glaucoma: Present in around 50% of patients. Present with increased intraocular pressure with possible buphthalmos. Distorted anatomical configuration of the angle as noted via gonioscopy. [eyewiki.aao.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]

• Pediatric Disease

  Cutaneous Protothecosis Dermatologic Manifestations of Filariasis Dermatologic Manifestations of Onchocerciasis (River Blindness) Lice Organism-Specific Therapy Pediculosis and Pthiriasis (Lice Infestation) Scabies Scabies Organism-Specific Therapy Pediatric [dokterairlangga.com]

• 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]

  Failure to thrive may present due to mineral wasting. Renal bicarbonate along with water and salt wasting. Chronic renal failure often develops as time progresses. [eyewiki.aao.org]

  Case Report A five and half year old boy presented with failure to thrive and multiple deformities of his limbs. He was the second child of non-consanguineous parents born of an uncomplicated pregnancy at term. [ispub.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]

• Fracture

  We recommend inclusion of the bilateral femur neck fractures in pathological fractures in inadequately or untreated Lowe syndrome. Osteopenia and pathological fractures should be prevented by correct treatment of rickets. References 1. [ispub.com]

  However, the only musculoskeletal abnormalities reported in patients with OCRS have been joint hypermobility, recurrent fractures, rickets, tenosynovitis, and joint effusions. No other specific orthopedic problems have been described. [ncbi.nlm.nih.gov]

  Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. [uniprot.org]

  […] behavior), postnatal growth retardation, mild to severe intellectual disability, stereotypic hand movements, renal dysfunction of the Fanconi type (proximal tubular acidosis; phosphate wasting leading to renal rickets, osteomalacia and pathological fractures [orpha.net]

• Osteoporosis

  The triad of bilateral neck femur fractures, active rickets and osteoporosis are extremely rare. [ispub.com]

  Jia-Woei Hou, Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome, Journal of the Formosan Medical Association, 108, 9, (730), (2009). [doi.org]

  Scoliosis Hernias Osteopenia Osteoporosis Rickets Fractures Metabolic acidosis Diagnosis History and Symptoms Mental retardation Seizures Febrile seizures Behavioral disturbances Temper tantrums Aggression Unusual repetitive movements Irritability Rigidity [wikidoc.org]

  He had dental findings and severe osteoporosis suggestive of rickets with a history of treatment for rickets. As a result, we may consider that our patient had a severe form of renal tubular defect. [sjkdt.org]

• Muscle Hypotonia

  Muscle hypotonia The first clinical symptom is severe neonatal hypotonia, often in the absence of deep tendon reflexes [ 3, 21 ]. [doi.org]

• Psychomotor Retardation

  Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. [ncbi.nlm.nih.gov]

  A dictionary of medical eponyms Related people Charles Upton Lowe Oculocerebrorenal dystrophy syndrome characterised by severe psychomotor retardation with growth and mental retardation/deterioration, hyperactivity with bizarre choreoathetoid movements [whonamedit.com]

  The patient aged of 19 months was referred to our medical centre because of a psychomotor retardation. He had a medical history of eye abnormalities including cataract and bilateral glaucoma, diagnosed when he was 5 weeks old. [hal.inserm.fr]

  Psychomotor retardation can be evident in childhood, while behavioral problems prevail and renal complications arise in adolescence. Low syndrome has an X-linked pattern of inheritance. [radiopaedia.org]

  Later on, he developed psychomotor retardation, dysmor- phic facial features, behavioral disturbances (irritability), which progressively worsened. [sjkdt.org]

• Areflexia

  Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures [medicalchemy-syndromes.blogspot.com]

  Abstract Neurologic features of oculocerebrorenal (Lowe) syndrome include mental retardation, hypotonia, and areflexia. [doi.org]

  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]

  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]

  […] 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]

• 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]

  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. [medlineplus.gov]

  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]

• 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]

• Cryptorchidism

  […] deep-set eyes, chubby cheeks, fair complexion), destructive teno-synovitis in older patients, short stature, mucocutaneous anomalies (eruptive vellus hair cysts, tricoepithiloma, excess skin folds and eruption cysts in oral cavity), dental malformations, cryptorchidism [orpha.net]

  […] without preceding trauma Strabismus Extremities Joint swelling : small and large joints Arthritis Tenosynovitis Joint contractures Neurologic Generalized neonatal hypotonia Areflexia Feeding difficulty Delayed motor development Delayed milestones Other Cryptorchidism [wikidoc.org]

• Polyuria

  Clinical problems typically include polyuria, acidosis, hypophosphatemia with rickets and eventually end stage renal disease. [ncbi.nlm.nih.gov]

  Proteinuria, polyuria, as well as bicarbonate, sodium and potassium wasting with tubular acidosis are all part of the urinary profile. Some patients have dental cysts and/or defective dentin. [disorders.eyes.arizona.edu]

  Diagnosis Along with the clinical manifestations listed above there is proximal tubular acidosis, with loss of bicarbonate, amino acids and phosphate, polyuria and proteinuria. The hyperaminoaciduria is widespread and milder than in cystinosis. [renaltube.com]

  Neuropsychomotor development and weight and height deficits were present in whole cases, as well as polyuria, polydipsia, and intestinal constipation, metabolic acidosis, phosphaturia, bicarbonaturia, proteinuria, hypercalciuria, hyperuricosuria. [flipper.diff.org]

• Delayed Bone Age

  Skeletal survey revealed bilateral neck femur fractures (figure 1), generalized osteoporosis, active rickets, delayed bone age (figure 2) and dorsolumber kyphosis (figure 3). There was no cervical spine instability was noted. [ispub.com]

• Glycosuria

  Glycosuria. Lowe noted the absence of glycosuria in his first three patients, even when blood glucose levels were increased to 150 mg/dl in two patients ( 1 ). [cjasn.asnjournals.org]

  P., a 2-month-old infant, was examined because of bilateral congenital cataracts and was also found to have bilateral glaucoma, albuminuria, and minimal glycosuria. From 6 to 12 months of age he received calcium lactate and sodium lacate therapy. [doi.org]

  In a series of patients with genetically proven LS, low-molecular-weight proteinuria, and albuminuria were the prominent findings, although none had glycosuria and only some had generalized aminoaciduria, tubular phosphate loss and rickets, hypercalciuria [sjkdt.org]

  1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency ) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance ) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria [wikidoc.org]

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]

Glaucoma diagnosis and treatment were more variable. [ncbi.nlm.nih.gov]

Areflexia is a peculiar state, which does not require treatment. Seizures require treatment with drugs specific for the symptoms. [doi.org]

Complications and Prognosis Prognosis is variable and early diagnosis is important to prevent life threatening complications due to renal pathology, hypotonia, or infection. [eyewiki.aao.org]

[…] 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]

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]

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]

[1] Eponym [ edit ] The condition is named after Charles Upton Lowe (August 24, 1921 – February 9, 2012). [13] [14] See also [ edit ] List of congenital disorders References [ edit ] ^ a b c "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology [en.wikipedia.org]

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]

[…] oculocerebrorenal syndrome. [1] Eponym [ edit ] The condition is named after Charles Upton Lowe (August 24, 1921 – February 9, 2012). [13] [14] See also [ edit ] List of congenital disorders References [ edit ] ^ a b c "Oculocerebrorenal Syndrome: Background, Pathophysiology [en.wikipedia.org]

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. [ncbi.nlm.nih.gov]

Some mutations in the OCRL gene 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. [medlineplus.gov]