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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFSyringomyelia with Central Canal Enlargement Caused by Postoperative Inflammation after Surgery for Intradural Lumbar Disc Herniation.
NMC Case Rep J
December 2024
Department of Orthopedic Surgery, NHO Osaka Minami Medical Center, Kawachinagano, Osaka, Japan.
Intradural lumbar disc herniation (ILDH) is a very rare condition, with cerebrospinal fluid (CSF) leakage as a postoperative complication. The central canal of the conus medullaris was reported to communicate with the subarachnoid space through a caudal aperture; however, this aperture has never been observed in vivo. Herein, we report a case of L1/2 ILDH with postoperative spinal adhesive arachnoiditis and syringomyelia in which the communication considered to be a caudal aperture was detected.
View Article and Find Full Text PDFDominant Occipital Sinus: A Rare Anatomical Variant With Potentially Catastrophic Consequences if Unrecognized Preoperatively.
Cureus
December 2024
Department of Neurosurgery, Southmead Hospital, North Bristol NHS Trust, Bristol, GBR.
The occipital sinus is often thought of as a redundant vestigial structure in adults. However, in rare cases, it can form the dominant route of intracerebral venous drainage, with a risk of significant surgical morbidity if unrecognised. We present an illustrative case describing this anatomical variant and tailoring of a midline suboccipital craniotomy to allow resection of a fourth ventricular epidermoid tumour with preservation of a dominant occipital sinus, and a review of the published literature.
View Article and Find Full Text PDFCausal Relationship Between Autoimmune Rheumatic Diseases and Iridocyclitis: A Bidirectional Two-Sample Mendelian Randomization Study.
Ocul Immunol Inflamm
January 2025
Department of Neurology & Stroke, University of Tübingen, Tübingen, Germany.
Purpose: This study aims to explore the relationship between autoimmune rheumatic diseases (ARDs) and the risk of iridocyclitis (IC) using Mendelian randomization (MR) analysis.
Methods: Data of ankylosing spondylitis (AS), systemic lupus erythematosus (SLE), juvenile idiopathic arthritis (JIA), Behcet's disease (BD), and iridocyclitis were obtained from genome-wide association studies with large sample sizes. The instrumental variable utilized in this study for each exposure was the single nucleotide polymorphism.
Neoadjuvant Immunotherapy and De-escalation of Surgery in Locally Advanced Breast Implant-associated Anaplastic Large Cell Lymphoma.
Arch Plast Surg
January 2025
Department of Plastic, Reconstructive, and Esthetic surgery, Università Cattolica del Sacro Cuore, Rome, Italy.
Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of non-Hodgkin T-cell lymphoma diagnosed in patients with a history of breast implants. Most patients develop a periprosthetic effusion at early stages of disease while less common presentations include a palpable mass, severe capsular contracture, lymphadenopathy, or cutaneous erythema. Due to the complex nature of this disease, a multidisciplinary approach is necessary for optimal management, particularly in locally advanced disease or inoperable patients.
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