RESUMEN
Tuberous sclerosis (TS) is a potentially severe medical disorder that poses a life-threatening risk and can lead to drastic lifestyle changes. In infants and young children, the typical diagnostic criteria for this condition encompass cutaneous manifestations and seizures, and the development of cellular growths termed hamartomas, astrocytomas, myolipomas, and even carcinomas observed within the cardiac, cerebral, renal, and retinal tissues. The usual age of presentation varies widely, which affects the prognosis. We report a case of a four-month-old male patient who presented with early signs of TS. The patient showed signs of infantile spasms and seizures. On further examination, he had neurological, cutaneous, cardiac, and retinal manifestations, which pointed toward the diagnosis of TS. This case report emphasizes the importance of screening for TS at an early age due to the possibility of patients presenting earlier than the usual age of presentation. To the best of our knowledge, there is scarce data on this kind of early-onset signs of TS; therefore, we feel that it is imperative to start screening infants earlier to improve the prognosis and decrease the complications of this disease. The screening tests and the incidence of screening will vary based on the cost and availability of proper diagnostic and screening tests and the accessibility of efficient treatments.
RESUMEN
Acute and chronic lower back pain can be commonly caused by intervertebral disc prolapse. This prolapse usually occurs in the dorsal direction and towards the anterior epidural space. In extremely rare cases, this migration/herniation can be seen approaching the posterior epidural space. One such rare instance has been recorded and described in our patient, a 53-year-old with a history of hypertension who presented with persistent lower back pain, radicular in nature, and recent acute aggravation, leading to mobility impairment. The patient experienced numbness in the lower limbs, urinary incontinence, and irregular bowel movements. Sensory deficits were noted along the L3 dermatome. The patient underwent an L3 laminectomy, revealing extruded disk fragments causing the compression. After surgery, the patient's power in the lower limbs began to improve, with significant recovery by discharge and complete resolution of bowel and bladder incontinence. This case highlights the diagnostic and therapeutic challenges of posterior epidural mass-like lesions in the lumbar spine, emphasizing the importance of prompt surgical intervention in restoring neurological function. The successful outcome underscores the significance of early diagnosis and intervention in such cases, ultimately improving the patient's quality of life.
RESUMEN
OBJECTIVE: To determine diagnostic accuracy of serum free light chain assay compared to serum and urine protein electrophoresis in plasma cell disorders. STUDY DESIGN: Descriptive cross-sectional study. PLACE AND DURATION OF STUDY: This study was conducted in the Immunology Department, Armed Forces institute of Pathology (AFIP), Rawalpindi, from May 2017 to May 2018. METHODOLOGY: Patients referred to AFIP for diagnosis of plasma cell disorders or for monitoring while receiving treatment were included in study. They were tested for serum protein electrophoresis (SPE), urine protein electrophoresis (UPE), immunofixation (IF), and serum free light chain assay (sFLC). IF was used as the reference standard. Test results were compared in terms of sensitivity, specificity, positive or negative predictive value, and accuracy index. RESULTS: During the study period 220 patients were tested for plasma cell disorders. One hundred and sixty-seven patients tested positive. One hundred twenty-nine patients had multiple myeloma, 13 plasmacytoma, 11 monoclonal gammopathy of undetermined significance, 6 amyloidosis, 6 POEMS, and 2 Waldenstrom macroglobulinemia. SPE had a sensitivity of 70.5%, specificity of 100%; sFLC had a sensitivity of 87%, specificity of 81%; and UPE had a sensitivity of 23.5%, specificity of 97%. Accuracy index was 80.5% for SPE, 85% for sFLC, and 54% for UPE. When taken together, SPE and UPE had a combined sensitivity of 72%, specificity 97%, and accuracy index 80.5%. SPE and sFLC had combined sensitivity of 98.6%, specificity 84.3%, and accuracy index 94%. CONCLUSION: Combination of SPE and sFLC had the highest sensitivity and accuracy index for diagnosis and monitoring of plasma cell disorders compared with conventional tests.
