Atypical complete DiGeorge syndrome (DGS) is an extremely rare congenital disease characterized by an eczematous dermatitis, lymphadenopathy, and an oligoclonal T-cell proliferation. Because its initial presentation may be confused with other types of eczematous dermatitis, diagnosis and treatment are usually delayed. We describe herein a case of an infant with atypical complete DGS to draw attention to the clinical and histopathological findings that lead us to the diagnosis.
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J Surg Case Rep
January 2025
Department of Orthopedic Surgery, Ministry of the National Guard - Health Affairs, Riyadh, Saudi Arabia.
Atypical femoral fractures (AFF) are rare stress fractures with specific diagnostic criteria, as outlined in a report published by the American Society for Bone and Mineral Research. These criteria are categorized into major and minor features, and AFF can be classified as either complete or incomplete. Bisphosphonates have been shown to increase the risk of AFF, and most cases of AFF are associated with bisphosphonate use.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Clinical Research Development Unit of Akhtar Hospital, Shahid Beheshti University of Medical Science, Tehran, Iran.
Synovial chondromatosis (SC) is a rare, benign joint disorder characterized by cartilaginous nodule formation within the synovial membrane. While SC typically affects larger joints such as the knee and hip, ankle involvement is exceptionally uncommon, with only a few cases documented in medical literature. We present a case of a 38-year-old male who experienced a rare presentation of recurrent ankle sprains and a palpable mass, ultimately diagnosed with SC in the ankle.
View Article and Find Full Text PDFCureus
December 2024
Central Research Service, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, IND.
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.
View Article and Find Full Text PDFAberrant anatomical variation of the vertebral artery (VA) from an internal carotid artery (ICA) is considered a rare finding. The incidence of this phenomenon can lead to patients suffering from posterior circulation neurological deficit if the ICA becomes significantly diseased. VA atypical anatomical origin is considered one of the rare pathologies, not only precipitating neurovascular incidents but equally leading to severe difficulty in VA dissection and surgical exposure, especially in carotid artery procedures.
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December 2024
Biomedical Sciences, University of Chicago, Chicago, USA.
Pediatric-type follicular lymphoma (PTFL) is an extremely rare B-cell lymphoma that primarily affects children and young adults, typically in individuals under 25 years old, with a median age of 15 years. Here, we report a rare case of PTFL in a 27-year-old adult male who presented with a slow-growing mass near his left ear. Initial CT scans of the neck revealed two oval-shaped, smooth, well-defined, homogeneously enhancing soft tissue density lesions in the superficial lobe of the left parotid gland.
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