Autoimmune polyendocrinopathy ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS I), is an uncommon, but debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE), It is characterized by a broad and diverse clinical spectrum which can lead to severe metabolic alterations and eventually life-threatening events. Hypoparathyroidism is one of the major criteria for clinical diagnosis, in addition to chronic mucocutaneous candidiasis and autoimmune adrenal insufficiency. This component is responsible for the forming of brain calcifications which tend to have a characteristic predilection for the basal ganglia. In this article, we report an additional case to the literature and provide a literature review of the expanding radiological spectrum of this syndrome
Pulmonary-renal syndrome is a medical condition that encompasses a range of clinical symptoms that can appear in various diseases. It is identified by the occurrence of both pulmonary hemorrhage and glomerulonephritis. While this syndrome is rare in children, it can pose a medical emergency if it does occur. Goodpasture's syndrome (GPS) is one of the infrequent causes of pulmonary-renal syndrome in childhood. This article presents a case study detailing the diagnosis of Goodpasture's Syndrome in a 5-year-old pediatric patient with a medical history of nephrotic syndrome, glomerulonephritis at end-stage renal failure, and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The patient was admitted to the emergency department due to hemoptysis, a hallmark symptom of this syndrome.
Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondromas, is a rare autosomal dominant genetic disorder featuring multiple exostoses (osteochondromas) mostly diagnosed in childhood, they arise near the growth plates of bones such as ribs, pelvis, vertebrae and predominantly long bones. CT and MRI imaging are required to examine anatomically difficult regions such as the pelvis and thorax, and X-rays are additionally helpful in finding associated deformities. In this article and through a case report, we mainly outline the input of imaging in the diagnosis, prognosis and therapeutic management of such condition
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