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Osteoporosis-Pseudoglioma Syndrome

OPPG


Presentation

  • They presented in infancy with visual impairment and psychomotor retardation.[ncbi.nlm.nih.gov]
  • We present a 13-year-old child with a homozygous mutation in LRP5 and low bone mass but without visual loss.[bone-abstracts.org]
Short Stature
  • The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now.[ncbi.nlm.nih.gov]
  • stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x.[order.radboudumc.nl]
  • From Genetics associated with mutations in LRP5 gene ( low density lipoprotein receptor-related protein-5) Clinical-manifestations short stature osteoporosis spontaneous fractures kyphoscoliosis hyperextensible joints microcephaly normal intelligence[anvita.info]
  • Clinical description Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.[orpha.net]
  • Additional clinical manifestations may include microphthalmos, abnormalities of the iris, lens or vitreous, cataracts, short stature, microcephaly, ligamental laxity, mental retardation and hypotonia.[uniprot.org]
Turkish
  • We present three novel homozygous LRP5 mutations found in 3 unrelated Turkish children with consanguineous parents, along with clinical phenotypes and response to treatment with bisphosphonates (bisP).[ncbi.nlm.nih.gov]
  • Conclusion: We report three novel LRP5 mutations in 3 Turkish patients with OPPG.[karger.com]
  • The mutation was present in the heterozygous state in the patients’ parents and was absent on 100 chromosomes from healthy Turkish controls.[nature.com]
Collapse
  • METHODS: Three children (ages 9 to 11 years) with osteoporosis pseudoglioma syndrome who had multiple vertebral collapse were treated over a 2-year period with intermittent intravenous bisphosphonate infusions (pamidronate in 2, clodronate in 1).[ncbi.nlm.nih.gov]
  • Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities.[ghr.nlm.nih.gov]
Barrel Chest
  • Showing of 23 Percent of people who have these symptoms is not available through HPO Absent anterior chamber of the eye 0008037 Autosomal recessive inheritance 0000007 Barrel-shaped chest Barrel chest 0001552 Blindness 0000618 Cataract Clouding of the[rarediseases.info.nih.gov]
Heart Disease
  • Abstract We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation.[ncbi.nlm.nih.gov]
  • Kuwait Teebi et al. (1988) described a sibship of two brothers and one sister from Oman suffering from osteoporosis-pseudoglioma syndrome associated with congenital heart disease.[cags.org.ae]
  • Update and report on two affected siblings. ( 3174281 ) Swoboda W....Grill F. 1988 43 Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. ( 3351889 ) Teebi A.S....Satyanath S. 1988 44 Osteoporosis-pseudoglioma syndrome[malacards.org]
Visual Impairment
  • They presented in infancy with visual impairment and psychomotor retardation.[ncbi.nlm.nih.gov]
  • Most patients with OPPG are blind by 15 years of age; however, this patient’s visual impairment only caused mild functional compromise.[bone-abstracts.org]
  • We sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the co-occurrence of severe congenital or childhood-onset visual impairment with bone fragility or osteoporosis recognized by young adulthood.[unboundmedicine.com]
Vision Disorder
  • disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x.[order.radboudumc.nl]
  • All patients had born at term, appropriate for gestational age to consanguineous parents, and vision disorders were noted at around postnatal 2 nd week.[abstracts.eurospe.org]
Hearing Impairment
  • impairment (97.9% **) WES Mendelian inherited disorders (97.9% **) WES renal disorders (97.9% **) WES short stature/skeletal dysplasia (97.9% **) WES vision disorders (97.9% **) ** % of the coding region of this gene has a coverage of 20x.[order.radboudumc.nl]
  • There is also intellectual and speech delay, short stature, but no hearing impairment. His mother is currently 5 months pregnant and has been counselled that future children have a 25% chance of being affected with OPS.[bjo.bmj.com]
Osteoporosis
  • KEYWORDS: Bisphosphonate; Bone; LRP5; OPPG; Osteoporosis-pseudoglioma; Osteoporosis-pseudoglioma syndrome[ncbi.nlm.nih.gov]
Severe Osteoporosis
  • Abstract Isteoporosis-pseudoglioma syndrome (OPPG) is a rare heritable entity that features severe osteoporosis and many variable ophthalmic findings leading to congenital or juvenile blindness.[ncbi.nlm.nih.gov]
  • Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta.[radiopaedia.org]
Muscle Hypotonia
  • Gene LRP5 gene, 11q13.1 (OMIM gene/locus number *603506 ) Phenotype Blindness, microphthalmia, vitreoretinal abnormalities, cataract, phthisis bulbi, absent anterior eye chamber, iris atrophy, pseudoglyoma, muscle hypotonia, obesity, mental retardation[iofbonehealth.org]
Anger
  • University, Angers, France c Rheumatology department, Angers Teaching Hospital, 49933 Angers cedex 9, France d Paris Descartes University, Rheumatology A department, Cochin Hospital, APHP, Paris, France e U.V.S.Q University, Biochemistry, hormonology[em-consulte.com]
  • University, Angers, Francey department, Angers Teaching Hospital, 49933 Angers cedex 9, Francees University, Rheumatology A department, Cochin Hospital, APHP, Paris, Francersity, Biochemistry, hormonology and molecular genetics department, Ambroise Par[docslide.com.br]
Seizure
  • At age 4 years, he had febrile convulsions followed by recurrent non-febrile complex partial seizures. At age 17 he was reexamined because of an episode of generalized seizures.[cags.org.ae]
  • Other manifestations include muscular hypotonia, ligamentous laxity, mild mental retardation and seizures. The gene responsible was recently identified to be the low density lipoprotein receptor-related family member LRP5 on chromosome 11q11-12.[ncbi.nlm.nih.gov]
  • Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or symptoms such as mild intellectual disability, weak muscle tone (hypotonia), abnormally flexible joints, or seizures.[ghr.nlm.nih.gov]
  • He has complex partial seizures, which have been well controlled with anticonvulsant medication since the age of 9 years. His brain MRI is normal. He is congenitally blind with bilateral retrolental masses.[nature.com]
Febrile Convulsions
  • At age 4 years, he had febrile convulsions followed by recurrent non-febrile complex partial seizures. At age 17 he was reexamined because of an episode of generalized seizures.[cags.org.ae]

Workup

Chloride Increased
  • Clement- Lacroix P, Ai M, Morvan F, Roman-Roman S et al. (2005) Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice.[link.springer.com]

Treatment

  • We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives.[ncbi.nlm.nih.gov]
  • 1 Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. ( 30499050 ) 2018 2 Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier. ( 28145787 ) Maltese P....Bertelli[malacards.org]
  • Treatment: Bisphosphonate treatment can improve bone density, and should be started early. The importance of trauma avoidance should be emphasized for all patients. Vitamin D insufficiency should be treated.[wohproject.org]

Prognosis

  • Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies.[ncbi.nlm.nih.gov]
  • Diagnosis and Prognosis: This condition requires ophthalmologic, pediatric, and orthopedic collaboration for diagnosis. Orthopedic repair is indicated for fractures and scoliosis.[disorders.eyes.arizona.edu]
  • […] testing related to Osteoporosis-pseudoglioma syndrome: * Colon & Rectal Cancer: Home Testing o Home Colorectal Cancer Tests o Home Fecal Occult Bleeding Tests * Osteoporosis & Bone Health: Home Testing: o Home Osteoporosis Tests o Home Bone Loss Tests Prognosis[checkorphan.org]
  • PROGNOSIS: Long term follow-up is lacking in this rare disorder. However, repeated fractures can lead to deformity disabilities.[wohproject.org]

Etiology

  • While several genes have been identified so far related to microphthalmia, the genetic etiology of the disease has not been fully understood because of genetic heterogeneity observed in this disease.[ncbi.nlm.nih.gov]
  • Etiology LDL receptor-related protein 5 (LRP5): mutations in osteoporosis-pseudoglioma syndrome and the high-bone-mass phenotype ( 12579474 ) References Audrey Koay M, Brown MA.[humpath.com]
  • Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Etiology The disease is caused by mutations in the low-density lipoprotein receptor related protein 5 gene ( LRP5 ). Last updated: 3/7/2006 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]

Epidemiology

  • Summary Epidemiology The estimated prevalence is 1/2 000 000.[orpha.net]
  • The book is structured such that, in the first section, an overview is provided on what is meant by the terms bone health and osteoporosis and includes key areas such as epidemiology, genetics and the impact of non-nutritional exogenous factors influencing[books.google.com]
  • Epidemiology The estimated prevalence is 1/2 000 000.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Identification of the Wnt/beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma[ncbi.nlm.nih.gov]
  • Identification of the Wnt/ beta-catenin pathway is a breakthrough in the elucidation of pathophysiological mechanisms affecting bone tissue and suggests new treatment targets for patients with osteoporosis or specific malignant conditions such as myeloma[wikigenes.org]

Prevention

  • New Royal Society of Chemistry, 2003 - 755 من الصفحات Nutritional Aspects of Bone Health provides an in-depth review of the role of diet in the development and maintenance of bone health throughout the lifecycle, and prevention of osteoporosis in later[books.google.com]
  • […] mineral density at the lumbar spine (age-appropriate SD score) improved from a mean of -4.5 before treatment to -2.8 after 2 years (P CONCLUSIONS: Intravenous bisphosphonate therapy appears safe and beneficial in patients with this condition and may prevent[ncbi.nlm.nih.gov]
  • These drugs have helped the bone strength in OPPG somewhat but have not prevented all fractures.[clinicaltrials.gov]
  • Bisphosphonates allows fracture prevention, the catch-up of bone mineral density and improvement in mobility in children with OPPG. New drugs favoring osteoblast function and osteoclast inhibition are potential candidates in the treatment of OPPG.[tandfonline.com]

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