Legionnaires' disease complicated with rhabdomyolysis and acute kidney injury

Legionnaire's disease can cause rare and severe complications such as rhabdomyolysis and acute kidney injury. This case report details a 45-year-old male patient who presented with features of Legionnaire's disease. Laboratory results showed a significantly elevated serum creatinine kinase level and an increased creatinine level. Imaging showed right lower lobe consolidation, and a positive urine antigen test confirmed Legionnaire's disease. The patient was administered azithromycin and underwent fluid repletion to manage the rhabdomyolysis and acute kidney injury, resulting in improved creatinine kinase levels and kidney function. He was discharged and continued on azithromycin for 10 days. His outpatient follow-up showed that creatinine kinase levels had further decreased. This case report emphasises the importance of early recognition and management of Legionnaire's disease and its rare but severe complications

Delayed diagnoses of SGCE myoclonus-dystonia

Background: Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms. Case reports: Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor SGCE frameshift mutations. Discussion: Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood. SGCE mutations should be included in the differential diagnosis of childhood movement disorders that ostensibly manifest with tics, myoclonus, or abnormal posturing secondary to dystonia and/or spasticity. Highlights: Due to pleiotropy, variable penetrance, broad differential, and hereditary effects of imprinting, the diagnosis of a disorder of childhood onset, myoclonus-dystonia due to SGCE mutations, may be delayed until adulthood, often compromising appropriate clinical management and genetic counseling

Worsening Hypothyroidism in the Setting of New-Onset Nephrotic Syndrome

We present a case of a 54-year-old female with well-controlled hypothyroidism who experienced worsening symptoms due to nephrotic syndrome. The patient presented with fatigue, progressive shortness of breath on exertion, and anasarca for one month. Laboratory results revealed significantly elevated thyroid-stimulating hormone levels and nephrotic range proteinuria. A kidney biopsy showed stage I membranous nephropathy with positive phospholipase A2 receptor (PLA2R) findings. Her symptoms gradually improved after receiving a higher dose of levothyroxine, along with diuretics and lisinopril initiation. She continued to be closely monitored by both endocrinology and nephrology outpatient services. This case report highlights the importance of closely monitoring hypothyroidism treatment when significant proteinuria is present