RESUMEN
Key Clinical Message: Crigler-Najjar syndrome type 2 should be suspected in any young patient presenting with isolated indirect hyperbilirubinemia where all other common etiologies have been excluded. It is a relatively benign condition that responds to phenobarbitone. Abstract: Crigler-Najjar syndrome (CNS) type 2 is an inborn cause of isolated indirect hyperbilirubinemia characterized by a partial deficiency of the enzyme uridine 5'-diphosphate-glucuronosyltransferase (UGT) responsible for bilirubin conjugation. Typically, this condition is diagnosed based on clinical manifestations, supplemented by enzyme analysis if feasible, and exhibits a significant response to phenobarbitone, known for its enzyme-inducing properties. In this case, we present a young male patient who had experienced recurrent isolated indirect hyperbilirubinemia since early childhood, with negative results in the hemolytic workup. The patient exhibited a UGT1A1 gene defect and demonstrated a highly favorable response to phenobarbitone treatment. The purpose of this report is to raise awareness among physicians about this benign condition and underscore the importance of avoiding unnecessary investigations.
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Key Clinical Message: It is important for pregnant and breastfeeding women who adhere to a strict vegetarian diet to take appropriate steps to avoid vitamin B12 deficiency in their infants. Abstract: Vitamin B12 deficiency is rare during infancy. The initial symptoms of this deficiency are subtle and may include irritability, failure to thrive with a decline in growth rate, apathy, anorexia, refusal of solid foods, megaloblastic anemia, and developmental regression. The case presented here involves an 8-month-old male infant who showed neurological symptoms such as decreased activity, increased drowsiness, and reduced interaction with parents, which were ultimately linked to a deficiency of cobalamin (vitamin B12). Early recognition of this condition is critical because it is reversible. Therefore, pregnant and lactating women who follow a strict vegetarian diet should take necessary measures to prevent vitamin B12 deficiency in infants.
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Aortic aneurysm is a potentially life-threatening condition with higher incidence in patients with systemic lupus erythematosus(SLE). Patients usually present with nonspecific symptoms and diagnosis is typically made incidentally through imaging studies. Management strategies include medical therapy to control inflammation and hypertension, surgical intervention for large or symptomatic aneursyms, and close monitoring for early detection of complications. We present a case of a 49-year female with multiple joint pain and other nonspecific symptoms for 7 years. Anti-ds DNA and ANA titre were significantly high and CT angiogram showed ascending aortic aneurysm measuring 5.5 cm. Conservative management was started with steroids, hydroxychloroquine, and antihypertensives, while awaiting surgery. However she suddenly collapsed, probably due to aneurysm rupture and could not be revived. Our case report therefore emphasizes the importance of close surveillance and timely intervention to minimize the morbidity and mortality in these patients.
RESUMEN
We report the case of a 62-year-old man who presented with shortness of breath, cough, bilateral lower limbs' swelling, and blackish discoloration of multiple fingertips over the past 2 months. Anti-Ribonucleoprotein antibodies were found to be present, and gadolinium-based cardiac MRI showed non-vascular subendocardial enhancement with diffuse symmetrical thickening of the left ventricular wall. A diagnosis of Mixed connective tissue disease with secondary cardiac amyloidosis was thus made, and the patient was successfully managed with intravenous cyclophosphamide, corticosteroids, and other supportive measures. Although extremely rare, this case shows that secondary cardiac amyloidosis should be considered while managing patients with MCTD.