ABSTRACT
Zinner syndrome (ZS) is a highly uncommon congenital or developmental urogenital anomaly characterized by the triumvirate of unilateral renal agenesis or dysplasia, ipsilateral ejaculatory duct obstruction, and ipsilateral seminal vesicle cyst. We present three cases of ZS in a 21-year-old male, a 20-year-old male, and a 24-year-old male. The diagnostic evaluation revealed unilateral renal agenesis associated with hypertrophy of the ipsilateral seminal vesicle with cystic changes on investigation by ultrasonography (USG), computed tomography (CT), and magnetic resonance imaging (MRI). The patients underwent surgical management, resulting in symptom resolution and enhanced quality of life. This case report highlights the diagnostic challenges, management options, and long-term outcomes for patients with ZS.
ABSTRACT
Wilson's disease (WD), alternatively termed hepatolenticular degeneration, represents a rare autosomal recessive disorder typified by disrupted copper metabolism, culminating in copper accumulation across various organs. WD commonly manifests with early-onset liver cirrhosis, with notable involvement of the central nervous system, particularly impacting the midbrain and basal ganglia. This case report delineates the clinical presentation of an early adolescent female with WD, accentuating classical magnetic resonance imaging (MRI) findings. These MRI findings, which include the "face of a giant panda sign" and the "Face of a miniature panda sign," are pivotal for expeditious diagnosis. Recognition of these classical signs underscores the indispensable role of MRI in elucidating the neurological dimensions of WD.
ABSTRACT
Introduction: Ramp lesions, often associated with anterior cruciate ligament (ACL) injuries, exhibit a varied incidence rate of 9-42%, increasing with delayed ACL reconstruction. These lesions, resulting from abnormal tibial movements and semimembranosus muscle contraction, are challenging to diagnose due to their hidden nature in standard magnetic resonance imaging and arthroscopy procedures. Case Report: This report examines the case of a ramp lesion in the context of a multi-ligament injured knee of a 34-year-old male. The patient had a complete ACL, medial collateral ligament, and avulsion of the posterior cruciate ligament with a type 1 ramp lesion. These findings were confirmed by arthroscopy and were treated with arthroscopic reconstruction of the ligament and all inside repair of the ramp lesion. We report the pertinent imaging findings relevant to the ramp lesions. Conclusion: Ramp lesions present a significant diagnostic and treatment challenge in orthopedic practice. Enhanced imaging techniques and a deeper understanding of their pathophysiology are crucial for an accurate diagnosis.
ABSTRACT
Huntington's disease (HD), referred to as Huntington's chorea, is an infrequent neurodegenerative ailment with an autosomal-dominant inheritance pattern characterized by the progressive deterioration of GABAergic neurons in the basal ganglia. Other ones include subcortical-type dementia, behavioral abnormalities, midlife psychosis, and gradual inadvertent choreoathetosis movements. HD is characterized by atrophy of the dorsal striatum (caudate nucleus and putamen) with concurrent expansion of the frontal horns of the lateral ventricles on imaging modalities such as computed tomography (CT) and magnetic resonance imaging (MRI). A molecular study validates the diagnosis of HD by identifying the disorder's hallmark amplified CAG triplet. Currently, there is no cure for HD, and treatment focuses on providing supportive care and managing the symptoms. Multidisciplinary approaches involving healthcare professionals, neurologists, and psychiatrists are crucial for comprehensive management. Medications are used to alleviate motor symptoms and manage psychiatric manifestations. Physical and occupational therapies help maintain functional abilities and improve quality of life. Genetic counseling and psychosocial support are essential for patients and their families. An additional crucial objective entails advancing more precise and dependable techniques for the timely identification and assessment of HD. Timely interventions and improved symptom management are made possible by early diagnosis. Based on clinical and imaging findings, we present a case of HD in a 62-year-old female.
ABSTRACT
Retrocaval ureter (RCU), also known as pre-ureteral vena cava or circumcaval ureter, is a rare congenital anomaly caused by inferior vena cava (IVC) dysgenesis, leading to the right ureter coursing behind the IVC. RCU results in obstructive proximal hydroureteronephrosis, remaining asymptomatic until the third decade when hydronephrosis develops. Diagnosis relies on imaging modalities like intravenous urography (IVU), ultrasonography, computed tomography urography (CTU), magnetic resonance urography, and nuclear scintigraphy. CTU provides comprehensive 3D evaluation. We report a novel case of a 50-year-old male with RCU complicated by a concurrent distal ureteral calculus. CTU demonstrated the characteristic "S-shaped" proximal ureteral deformity and its aberrant posterior course relative to the IVC, enabling accurate preoperative diagnosis. The co-occurrence of RCU with ureteral calculus is notably rare, underlining the necessity of an exhaustive diagnostic process. The patient successfully underwent a combined surgical intervention, consisting of laparoscopic ureteroureterostomy for RCU correction and ureteroscopic lithotripsy for calculus removal, showcasing a minimally invasive approach to simultaneously address both conditions. This report underscores the significance of advanced cross-sectional imaging in diagnosing RCU and demonstrates the effectiveness of integrated minimally invasive surgical techniques in treating complex urological anomalies. By documenting this case, we contribute to the broader understanding and awareness of RCU among clinicians, potentially guiding more prompt recognition and comprehensive management of this rare condition.
