Damascus Hospital

Renal lymphangiectasia is a rare benign disorder involving the dilatation of renal lymphatic channels. While often incidental, it can cause significant morbidity through renal compression. We report a unique case of symptomatic bilateral disease presenting in the immediate postpartum period, managed with a novel surgical approach. A 23-year-old female presented five days postpartum with progressive left flank pain, nausea, and a blood pressure of 140/90 mmHg. Computed tomography (CT) demonstrated large bilateral perinephric fluid collections causing substantial compression of the kidneys and adjacent organs, along with moderate ascites. Fluid analysis from a perinephric drain was consistent with lymph. Due to severe compressive effects and early recurrence following percutaneous drainage, the patient underwent laparoscopic surgical intervention. The procedure involved the complete excision of the markedly thickened renal capsule (decapsulation) and the creation of a posterior peritoneal drainage window to facilitate continuous fluid absorption. At 16 months post-operation, imaging confirmed significant radiological regression and preserved renal function. Notably, follow-up extended after a subsequent pregnancy showed no recurrence of fluid collections, and the patient remained asymptomatic. Complete renal decapsulation with a peritoneal window provided definitive treatment in this severe bilateral case.

Rationale: DNASE1L3 deficiency is a rare autosomal-recessive monogenic form of systemic lupus erythematosus, characterized by defective clearance of extracellular DNA, leading to immune-complex formation, autoantibody production, and systemic inflammation. While early-onset lupus nephritis and hypocomplementemic urticarial vasculitis are hallmark features, the full clinical spectrum remains incompletely understood, particularly in pediatric populations. Patient concerns and diagnoses: We report 4 cases from 2 unrelated consanguineous Syrian families, including 1 genetically confirmed case with a pathogenic DNASEI L3 variant, 1 case harboring a homozygous DNASEI L3 variant of uncertain significance, and 2 phenotypically concordant siblings without genetic testing. Clinical, laboratory, and histopathologic data were reviewed to characterize disease manifestations, organ involvement, serologic profiles, and therapeutic outcomes. Interventions and outcomes: All patients presented with recurrent fever, cutaneous rash, and musculoskeletal involvement, with notable variability in autoantibody profiles, renal pathology, and disease severity. Genetic analysis identified a homozygous pathogenic DNASEI L3 variant in case 3 and a homozygous DNASEI L3 variant of uncertain significance in case 1, supporting a clinically suspected DNASEI L3-associated monogenic lupus-spectrum disease. Renal involvement ranged from IgA glomerulonephritis to class IV lupus nephritis. Ocular manifestations, including conjunctival congestion and papilledema, were observed in 3 patients, highlighting an underrecognized feature. Therapeutic responses varied: 1 patient remained stable on baricitinib, while 2 patients succumbed to severe neurologic or renal complications. This series underscores the heterogeneous phenotypic spectrum of DNASEI L3-associated disease, including atypical seronegative presentations and diverse renal pathology. Lessons: DNASEI L3-associated disease should be considered in children with early-onset vasculitic rash, hypocomplementemia, and nephritis, regardless of classical autoantibody status. Our cases expand the known clinical spectrum, emphasize the potential for ocular involvement, and suggest a role for targeted therapies such as JAK inhibitors in interferon-driven disease. Early genetic testing is essential for timely diagnosis and management of this potentially life-threatening condition.

Inflammatory bowel disease (IBD) is associated with extraintestinal cardiovascular effects. While tachycardia is common during active inflammation, bradycardia is exceptionally rare. We report a case of transient sinus bradycardia occurring during an acute severe ulcerative colitis flare in which no alternative cause was identified after structured evaluation. A 23-year-old Syrian woman with severe, long-standing ulcerative colitis (pancolitis) was hospitalized during an intense flare, with over ten daily bloody bowel movements, pain, and nighttime bleeding. Despite ongoing treatment with mesalamine, azathioprine, and intensified infliximab, her inflammatory markers were elevated. On day three, she developed transient dizziness. Unexpectedly, her heart rate slowed significantly (sinus bradycardia), which is a rarity in IBD, where fast heart rates are more common. A structured cardiac evaluation did not identify myocardial injury, electrolyte disturbance, thyroid dysfunction, or infection, and no temporal association with any medication was observed. The patient’s cardiac structure and function were normal. Crucially, the slow heart rate resolved spontaneously by day seven as her colitis improved with treatment, including an extra infliximab dose. This case suggests that severe intestinal inflammation may be accompanied by transient, reversible disturbances of heart rhythm, possibly through autonomic mechanisms; however, a causal relationship cannot be established from a single observation. Clinicians should nonetheless remain alert to unusual cardiac symptoms during IBD flares.

BACKGROUND:This report presents a rare case of pneumorrhachis, pneumothorax, and pneumocephalus in a patient with multiple traumatic injuries following a gunshot wound to the chest. Pneumorrhachis, the presence of air within the spinal canal, can arise from iatrogenic, nontraumatic, or traumatic causes and is classified as extradural or intradural, the latter often linked to severe trauma. Pneumothorax, air in the pleural space, may impair ventilation and presents as simple, communicating, or tension types, with causes including trauma, iatrogenesis, or spontaneous events. Pneumocephalus, an accumulation of gas within the neurocranium, typically resolves spontaneously but rarely occurs in combination with pneumothorax after thoracic gunshot trauma. This report aims to elucidate the potential pathophysiological mechanisms of air migration and highlight the multidisciplinary management challenges inherent in this rare traumatic triad. CASE PRESENTATION:A 45-year-old Syrian male presented with multiple traumatic injuries following a gunshot wound to the chest. Initial assessment revealed respiratory distress, hemodynamic instability, and decreased oxygen saturation. Clinical evaluation and imaging confirmed a tension pneumothorax, which was treated with an emergent chest tube placement. Subsequent computed tomography scans showed extensive pneumocephalus, with air pockets in the intracranial cavity, and pneumorrhachis, with air tracking along the spinal canal. Both findings were attributed to the high-pressure air leakage through fascial planes and anatomical pathways caused by the penetrating trauma. The patient was managed with supplemental oxygen, careful neurological monitoring, and supportive care. Despite the severe injuries, his condition stabilized, and no surgical intervention was required for the pneumorrhachis or pneumocephalus, which resolved spontaneously over time. However, the patient's clinical course was complicated by persistent infection and respiratory failure, and he ultimately succumbed to his injuries 3 months after admission. CONCLUSION:The coexistence of pneumorrhachis, pneumothorax, and pneumocephalus following chest gunshot trauma is exceedingly rare. This case underscores the importance of early recognition, prompt imaging, and multidisciplinary care in managing such complex injuries, contributing valuable insights to the limited literature on these conditions.

Bouveret syndrome is an uncommon form of gallstone ileus that results from a cholecystoenteric fistula. Impaction of gallstone in the proximal duodenum blocks the gastric outlet. We report the first case from a resource-limited setting. A 75-year-old man with calculous cholecystitis arrived with gastric obstruction, melena, coffee-ground emesis, and weight loss. Lab data showed leukocytosis and mild anemia. Computed tomography scan showed gastric distension, pneumobilia, and a gallstone in the duodenum: the characteristic findings in Rigler's triad. Due to its large size and calcification, endoscopic extraction was unsuccessful, and this necessitated surgical enterolithotomy. Despite the technical success of the surgery, the patient passed away two days later due to heart arrhythmia. This case report highlights the necessity of prompt surgical intervention when modern endoscopic alternatives are not accessible.