ABSTRACT
Schnitzler syndrome (SS) is a rare autoinflammatory disorder characterized by a constellation of symptoms that include chronic urticarial rash, recurrent fever, arthralgias/arthritis, and monoclonal gammopathy, typically involving immunoglobulin M (IgM). However, cases with overlapping clinical features but lacking specific criteria fall under the umbrella of Schnitzler-like syndromes. This case report describes a 40-year-old male with Schnitzer-like syndrome and underscores the diagnostic complexities and therapeutic challenges of Schnitzer-like syndrome with IgG kappa monoclonal gammopathy, highlighting the need for a comprehensive diagnostic approach and targeted therapy.
ABSTRACT
Kartagener's syndrome is a genetic condition that is caused by a triad of symptoms, which includes bronchiectasis, chronic sinusitis, and situs inversus, and is considered rare. It is caused by defective ciliary motility, leading to impaired mucociliary clearance. We report a case of a 24-year-old male who presented with primary infertility and a long-standing history of recurrent respiratory infections. Physical examination revealed dextrocardia and digital clubbing. Radiological investigations confirmed situs inversus totalis and bronchiectasis. Semen analysis revealed azoospermia. Genetic analysis was not done due to financial constraints. However, the constellation of clinical features was diagnostic of Kartagener's syndrome. The patient was managed with antibiotics and chest physiotherapy. In vitro fertilization (IVF) was advised for infertility. A successful pregnancy was achieved through IVF, indicating viable sperm despite immotility. The aforementioned case underscores the significance of maintaining a heightened sense of suspicion for Kartagener's syndrome in individuals exhibiting unexplained bronchiectasis and infertility. Early diagnosis can prevent chronic respiratory morbidity and enable parenthood through assisted reproduction.