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Familial Isolated Congenital Asplenia


Presentation

  • Dr_ather77@hotmail.com Abstract Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development.[ncbi.nlm.nih.gov]
  • Definition A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood.[uniprot.org]
  • Most of these presented in the early years of life and only seven cases were diagnosed in the adult [ 1 ].[omicsonline.org]
  • Original Paper First Online: 19 July 2009 Abstract Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis.[link.springer.com]
  • Asplenia is also present in Stormorken syndrome (thrombocytopenia and miosis).[emedicine.medscape.com]
Protein S Deficiency
  • S deficiency Hypermethioninemia due to glycine N-methyltransferase deficiency Muscular dystrophy, Selcen type Myhre syndrome Oculodentodigital dysplasia Pilomatrixoma Retinopathy - anemia- central nervous system anomalies Syndactyly type 3 Very long[csbg.cnb.csic.es]

Workup

  • Although it is generally a benign condition, it can radiographically mimic malignancy and result in extensive workup and invasive procedures. Congenital asplenia is most often found in association with other developmental anomalies.[emedicine.medscape.com]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • "Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force".[en.wikipedia.org]
  • Six months after the treatment, the patient has reported no further episodes of gastrointestinal bleeding and his hemoglobin has remained stable.[unboundmedicine.com]
  • For instance, penicillin remains the drug of choice for the treatment of infection with C. canimorsus . 2 , 5 TABLE 4 Empiric Treatment of Possible Overwhelming Postsplenectomy Infection The rightsholder did not grant rights to reproduce this item in[aafp.org]
  • Despite inten-sive treatment, the patient died within 24 h. Autopsyrevealed a nearly completely involuted spleen (51.5 g;normal 4150 g).[dokumen.tips]

Prognosis

  • Because the prognosis for these patients must be optimistic, we recommend early documentation of splenic function in children suspected of having the asplenia syndrome, prophylactic antibiotics, and parent education.[ncbi.nlm.nih.gov]
  • Eur J Pediatr (2010) 169:315–318 Prognosis - Isolated congenital asplenia (ICA) Congenital isolated asplenia may be a minor form of situs abnormality or a separate entity due to a specific defect of spleen development.[checkorphan.org]

Etiology

  • Skeletal dysmorphology is seen and severe prenatal and postnatal growth failure usually leads to death by one year of age, FCCX is most likely etiologically heterogeneous but RPS20 may be implicated in some cases Mutation In biology, a mutation is the[wikivisually.com]

Epidemiology

  • Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Prevention

  • "Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force".[en.wikipedia.org]
  • Prevention and management ofoverwhelming postsplenectomy infectionan update.[dokumen.tips]
  • Waghorn DJ (2001) Overwhelming infection in asplenic patients: Current best practice preventive measures are not being followed. J Clin Pathol 54: 214-218.[omicsonline.org]
  • Science. doi:10.1126/science.1234864 Prevention - Isolated congenital asplenia (ICA) It is already known that congenital isolated asplenia is a rare condition, which is heterogeneous in its presentation.[checkorphan.org]
  • Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. BMJ . 1996;312:430–4. 6. Advisory Committee on Immunization Practices (ACIP). Prevention of pneumococcal disease.[aafp.org]

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