ABSTRACT
Wilson's disease (WD) is an autosomal recessive disorder, in which the metabolism of copper is affected by metal accumulation in several organs that causes gradual organ degeneration. Since Wilson's initial description of WD over a century ago, there have been significant improvements in understanding and managing the condition. Nevertheless, the ongoing gap between the onset of symptoms and diagnosis highlights the difficulties in identifying this copper overload disorder early. Despite being a treatable condition, detecting WD early remains a challenge for healthcare professionals at all levels of care, likely due to its rarity. The key challenge is, therefore, to educate physicians on how to identify atypical or infrequent symptoms of WD, prompting them to consider the diagnosis more carefully. The purpose of our review is to draw attention to the difficulties associated with diagnosing pediatric WD, starting from our personal experience of a complex case and then examining relevant literature. In summary, the diagnosis of WD in children is intricate and requires a heightened level of suspicion to identify this infrequent condition. A thorough evaluation by a multidisciplinary team of physicians, along with genetic testing, histopathologic examination, and specialized imaging studies, may be necessary to confirm the diagnosis and guide treatment.
Subject(s)
Hepatolenticular Degeneration , Humans , Child , Hepatolenticular Degeneration/diagnosis , Hepatolenticular Degeneration/therapy , Hepatolenticular Degeneration/genetics , Copper/metabolism , Genetic TestingABSTRACT
Necrotizing pneumonia remains an uncommon complication of pneumonia in children, but its incidence is increasing. Pneumococcal infection is the predominant cause of severe necrotizing pneumonia in children, but methicillin resistant Staphylococcus aureus (MRSA) and Panton-Valentine leukocidin (PVL) staphylococcal infections are also important. We present the case of a four-year-old girl,with an unremarkable medical history, who was admitted in our hospital with a history of high fever, productive cough and tachypnea lasting for 10 days, progressive worsening despite empirical oral antibiotic. Following physical examination, laboratory investigations and thoracic radiography, we established the diagnosis of left lower lobe pneumonia with parapneumonic effusion, acute respiratory failure and sepsis. Medical treatment with systemic antibiotics was initiated, but the evolution was unfavorable. Seriated chest X-rays and also high resolution computed tomography with contrast of the lung were performed, revealing the progression to extensive necrotizing pneumonia with multiple cystic lesions causing right mediastinal deflection. The parenteral broad spectrum antibiotic regimen was adjusted, still with unfavorable evolution, requiring surgical treatment (left inferior lobectomy and pleural draining). Postoperatively, recovery was uneventful. The patient was discharged with clinical and laboratory improvement of his condition, a repeated chest X-ray showing good expansion of upper left parenchyma.
ABSTRACT
Left retrocaval ureter is an extremely rare congenital malformation which is associated with situs inversus, duplicated or translated inferior vena cava (IVC). We report a female adolescent who presented with a history of intermittent, colicky lumbar pain. Diagnostic workup revealed left retrocaval ureter and left ureterohydronephrosis. The girl underwent laparoscopy. The renal pelvis and ureter posterior to the vena cava were dissected, transected at the caudal point of the dilated ureteral segment, and uncrossed and repositioned lateral to the vena cava. Ureteroureterostomy was performed over a double-J ureteral stent after spatulation of the distal ureter. The postoperative course was uneventful and the ureteral stent removed after 5 weeks. During follow-up, the patient is symptom-free. Our case demonstrates that our laparoscopic approach is feasible in this rare anatomic anomaly.
