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1.
Cureus ; 16(3): e55698, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38586636

RESUMO

Heterotaxy syndrome (HS) occurs in developing embryos due to an inability to establish the normal anatomy, which manifests as abnormal symmetry and malposition of the thoracoabdominal viscera and vasculature, including cardiac and extracardiac anomalies. It is classified as right or left atrial isomerism. This classification depends on the atrial appendage morphology and the extracardiac defect associated with it. Right isomerism usually presents with right atrial appendages (RAA), asplenia, total anomalous pulmonary venous return, and severe pulmonary stenosis. In contrast, left isomerism usually presents with left atrial appendages, polysplenia, and an interrupted inferior vena cava (IVC). The interrupted IVC feature has never been reported with the right isomerism. Diagnosis of HS may take place prenatally or a few days postnatally due to the severe cardiac defect, whereas a left isomerism diagnosis may be delayed until adulthood. Despite the popularity of the HS classification, we reported a rare presentation of an interrupted IVC, dextrocardia, a right-sided aortic arch, and a total anomalous pulmonary venous return, which occurred along with the right isomerism major components (asplenia syndrome).

2.
Cureus ; 16(1): e51956, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38333487

RESUMO

Sagliker syndrome (SS) is a rare complication in patients with chronic kidney disease (CKD) on prolonged dialysis due to uncontrolled secondary hyperparathyroidism (SHPT). SS manifests with a constellation of clinical manifestations, including short stature, craniomaxillofacial abnormalities, hearing loss, and neuropsychiatric disorders. This article reports a 33-year-old male patient with CKD who complained of progressive disfiguring facial changes, multiple recurrent fractures, and shortened height. The condition affects his quality of life. On workup, his lab results showed highly elevated serum levels of parathyroid hormone, alkaline phosphatase (ALP), calcium, and phosphate. His comorbidities and poor health status limit his ability to do parathyroidectomy (Ptx). A reliable diagnostic approach must be considered, enabling physicians to make earlier interventions and get better outcomes.

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