Asplenia congenita

The paper presents a case of congenital asplenia diagnosed occasionally in a child who previously presented with a pneumococcal sepsis. The case offers the opportunity to discuss about the elevated risk of severe invasive infections in patients with congenital asplenia and the importance of early diagnosis so to prevent infections by starting an antibiotic prophylaxis, adequate vaccinations and prompt antibiotic therapy with immediate medical consult in case of fever. First degree relatives should be concerned about the high frequency of autosomal dominant transmission of this condition and should be submitted to early follow-up.

Management Of Gastrointestinal Bleeding In Rendu-Osler Disease

Background: Hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by artero-venous malformations (AVMs or telangiectasia) with autosomal dominant transmission. AVMs can occur in any organ of the body, most commonly occur in nose, pulmonary, hepatic and cerebral circulations. In patients with HHT we report teleangectasia of mucosa of gastrointestinal tract. Methods: Research and online content related to HHT online activity is reviewed, and DOC writing excerpts are used to illustrate key themes. Results: Patients with HHT have a high rate of complications related to bleeding; of them gastrointestinal bleeding accounts for 10.8%. Several therapy, both medical and endoscopic, was utilized to reduce the need of transfusions and hospitalization. Conclusion: A combination of medical and endoscopic therapy is probably the best option.

Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

Two cases occur in the same family (siblings) of 30 and 16 years of age with a diagnosis of primary pachydermoperiostosis or Touraine-Solente-Goulé Syndrome (TSG), an uncommon condition, characterized by pachydermia, periostosis and pachydactyly, which can be idiopathic, with onset at puberty, of genetic origin, autosomal dominant transmission. These brothers come to the internal medicine office of the Carlos Manuel de Céspedes hospital complaining of joint pain with skin and osteoarticular manifestations, consulting with the dermatology service considering the diagnosis of this rare syndrome and conducting relevant studies and after its conclusion makes the clinical report for publication because it is the first case reported in our province.

Autosomal dominant transmission of signal transduction and activator of transcription 1 (STAT1) mutation (Thr385Met) and extended lifespan

Introduction: Heterozygous mutations in signal transducer and activator of transcription 1 (STAT1) have been associated with selective deficiencies to mycobacterial or fungal infections. Recent reports revealed that patients found to carry de novo heterozygous mutations in STAT1 encoding specific amino acid substitutions can go on to develop progressive combined immunodeficiency, distinct from the limited susceptibilities to infection previously reported for heterozygous STAT1 mutations. Objectives: We present a case of a mother and her son with chronic mucocutaneous candidiasis and T-cell dysfunction, both of whom lived longer than projected life expectancy with a heterozygous STAT1 mutation. The son lived to the age of 20 years and the mother to the age of 32 years. Methods: The son's blood sequencing of STAT1 was performed on a pure T-cell lineage at The Hospital for Sick Children and the Canadian Center for Primary Immunodeficiency, Toronto, Ontario. Results: STAT1 analysis revealed a heterozygous DNA binding domain mutation at Thr385Met. The patient proceeded to develop fulminant progressive multifocal leukoencephalopathy that ultimately led to his death. The patient's mother, although never confirmed to have STAT1 mutation with formal blood sequencing, had multiple comorbidities including progressive lymphopenia, hypogammaglobulinemia, recurrent Pseudomonas pneumonias with associated bronchiectasis, end-stage kidney disease requiring hemodialysis, and ultimately death due to multiple end organ failure associated sepsis. Conclusion: This is the first autosomal dominant transmission of the STAT1 DNA binding domain Thr385Met mutation with an extended lifespan. Statement of Novelty: Previous patients found to have heterozygous mutations of STAT1 that were associated with progressive combined immunodeficiency, arose de novo in each case. Presumed autosomal dominant transmission of a heterozygous STAT1 DNA binding domain Thr385Met mutation has not been reported.