Presentation
[…] and therapeutic aspects.Clinical case: A tenmonth-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. [revistaschilenas.uchile.cl]
Financial Disclosure: Authors state that no economic support has been asso ciated with the present study. Conflicts of Interest: Authors declare no conflict of interest regarding the present study. Bibliografía: 1. [scielo.cl]
The autosomal dominant form is the most common: usually, patients have mild symptoms that present in late childhood to adulthood. [rarediseases.org]
Entire Body System
- Anemia
He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impairment, and repeated infections. [revistaschilenas.uchile.cl]
It may be an element of diagnostic suspicion in the first month of life in a patient with normocytic normochromic anemia or unexplained thrombocytopenia3. [scielo.cl]
Affected individuals may also experience rhinitis, hepatosplenomegaly, anemia and extramedullary hematopoiesis. [rarediseases.org]
- Pain
Mol Pain. 2016;12:1–7. Dr. Luigi Rampoldi Orbegoso, Dr. Rómulo Puga M. Osteopetrosis: reporte de un caso clínico. Rev Peru Pediatría. 205d. C.;Septiembre-Diciembre 2015:45–8. Sahil Jain, Vineeta Pande, Geeta R Karambelkar, arad R. [editorial.ucsg.edu.ec]
- Swelling
In addition to classical symptoms linked with osteopetrosis, it is associated with immunodeficiency, localized fluid retention and tissue swelling (lymphedema) as well as abnormalities of the hair, skin, nails and sweat glands (ectodermal dysplasia). [rarediseases.org]
Liver, Gall & Pancreas
- Hepatosplenomegaly
He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impairment, and repeated infections. [revistaschilenas.uchile.cl]
Hematologically, he presented severe thrombocyto penia (minimum levels of 16000/μL) since his admis sion, adding later normocytic normochromic anemia and massive hepatosplenomegaly. [scielo.cl]
Affected individuals may also experience rhinitis, hepatosplenomegaly, anemia and extramedullary hematopoiesis. [rarediseases.org]
Musculoskeletal
- Arthritis
[…] www.letthemhear.org Metabolic Support UK Unit 11-12 Gwenfro Technology Park, Croesnewydd Rd Wrexham, Wales LL13 7YP United Kingdom Phone: 0124420758108452412173 Email: [email protected] Website: https://www.metabolicsupportuk.org/ NIH/National Institute of Arthritis [rarediseases.org]
Ears
- Hearing Impairment
He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impairment, and repeated infections. [revistaschilenas.uchile.cl]
He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impair ment, and repeated infections. [scielo.cl]
Treatment
The results of treatment with corticosteroids, vitamin D, and calcium or HPCT are disappointing1,2. [scielo.cl]
Other treatments are symptomatic and supportive. Genetic counseling is recommended for families in which this disorder occurs. [rarediseases.org]