AME Case Reports最新文献

{"title":"Superior sulcus tumor with vertebral invasion following initial diagnosis of cavitary lung disease: a case report.","authors":"Andrei I Gritsiuta, Parsa Radfar, Shawn P Nishi, Roman V Petrov","doi":"10.21037/acr-2026-0121","DOIUrl":"10.21037/acr-2026-0121","url":null,"abstract":"<p><strong>Background: </strong>Superior sulcus tumors represent a rare and aggressive subset of non-small cell lung cancer characterized by early invasion of adjacent osseous, vascular, and neural structures. Diagnosis may be challenging when clinical and radiographic features overlap with infectious etiologies, particularly in the setting of cavitary lung disease. The increasing prevalence of nontuberculous mycobacterial pulmonary infection further complicates this distinction and may delay recognition of underlying malignancy. This report aims to highlight the diagnostic challenges posed by cavitary pulmonary lesions with confirmed infection and to describe the multidisciplinary management of a superior sulcus tumor with vertebral invasion.</p><p><strong>Case description: </strong>A 48-year-old woman with a history of tobacco use initially presented with a cavitary right upper lobe lesion and microbiologically confirmed nontuberculous mycobacterial infection. Initial management focused on antimicrobial therapy, with partial radiographic improvement. Persistent symptoms and evolving imaging findings prompted further evaluation. Robotic navigational bronchoscopy revealed a locally advanced superior sulcus adenocarcinoma with invasion of the T3 and T4 vertebral bodies and neural foramina. Invasive mediastinal staging by endobronchial ultrasound confirmed absence of nodal involvement. The patient staged as cT4N0 disease and underwent induction chemoradiotherapy with carboplatin, pemetrexed, and 60 Gy of radiation, achieving a significant metabolic and radiographic response. She subsequently underwent multidisciplinary en bloc resection, including right upper lobectomy, mediastinal lymphadenectomy, and partial T3 corpectomy with T2 to T4 spinal stabilization. The postoperative course was uneventful. Final pathology demonstrated a complete pathologic response with negative margins and no nodal involvement (ypT0N0).</p><p><strong>Conclusions: </strong>This case highlights the diagnostic pitfalls associated with cavitary pulmonary lesions in high-risk patients and emphasizes the importance of maintaining suspicion for malignancy despite microbiologic confirmation of infection. It also underscores the role of multidisciplinary reassessment and induction therapy in facilitating successful resection of selected locally advanced superior sulcus tumors.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"143"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148725054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tislelizumab-induced bullous epidermal necrolysis: case reports and pathogenetic insights.","authors":"Yixun Gu, Renjie Gu, Yong Chen, Xiang Gu","doi":"10.21037/acr-2026-0109","DOIUrl":"10.21037/acr-2026-0109","url":null,"abstract":"<p><strong>Background: </strong>Tislelizumab, a humanized IgG4 monoclonal antibody targeting programmed cell death protein 1 (PD-1), has demonstrated efficacy in advanced malignancies such as non-small cell lung cancer, nasopharyngeal carcinoma, classical Hodgkin lymphoma, and esophageal squamous cell carcinoma. Bullous epidermal necrolysis (BEN) associated with single-agent PD-1 inhibitors is rare and remains poorly characterized. We report three cases to describe their clinical presentation, histopathologic findings, management, and possible pathogenesis.</p><p><strong>Case description: </strong>Three men aged 56, 81, and 70 years developed rapidly progressive erythema, flaccid bullae, or sheet-like desquamation involving 25%, 40%, and 30% of the body surface area, respectively, within 2-3 days after tislelizumab infusions for retroperitoneal lymph node adenocarcinoma, stage IV lung cancer, and esophageal squamous cell carcinoma. Skin biopsy in Cases 1 and 2 showed full-thickness epidermal or keratinocyte necrosis with subepidermal clefting; direct immunofluorescence in Case 1 was negative. Tislelizumab was discontinued permanently. All patients received systemic methylprednisolone and intravenous immunoglobulin, together with supportive and topical care as appropriate. Re-epithelialization or marked clinical improvement occurred without rechallenge.</p><p><strong>Conclusions: </strong>Early recognition, immediate drug discontinuation, and immunosuppressive therapy were associated with favorable outcomes. Vigilant assessment and multidisciplinary collaboration are important during immune checkpoint inhibitor therapy. Further studies are needed to define susceptibility factors and optimal targeted interventions.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"155"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13467023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148727169","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large abdominal wall and intraperitoneal pseudocysts: a diagnosis of exclusion that still requires the scalpel.","authors":"Koji Takahashi","doi":"10.21037/acr-2026-0189","DOIUrl":"10.21037/acr-2026-0189","url":null,"abstract":"","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"125"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148722004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Langerhans cell sarcoma of the right calf: a case report.","authors":"Na Zhang, Aina He","doi":"10.21037/acr-2026-0071","DOIUrl":"10.21037/acr-2026-0071","url":null,"abstract":"<p><strong>Background: </strong>Langerhans cell sarcoma (LCS) is an extremely rare malignant tumor originating from the neoplastic proliferation of Langerhans cells. To report a rare case of LCS with a prolonged clinical course following surgical excision and chemotherapy, we present this case report.</p><p><strong>Case description: </strong>We report the case of a 46-year-old female Han Chinese patient who presented with persistent right calf pain. Surgical excision was performed, and the diagnosis of LCS was confirmed histopathologically and by immunohistochemical evaluation. Postoperative positron emission tomography/computed tomography (PET/CT) performed 24 days after surgery revealed bilateral femoral and tibial lesions, which are consistent with LCS in conjunction with pathological findings. The patient received six cycles of anthracycline chemotherapy. Subsequently, abdominal contrast-enhanced computed tomography (CT) and PET/CT indicated liver dissemination, prompting a switch to six cycles of ifosfamide chemotherapy. Follow-up evaluations demonstrated stable disease. After a treatment-free interval of 23 months, repeat abdominal contrast-enhanced CT showed complete resolution of the liver dissemination. The patient remains in stable condition during regular follow-up, with overall disease duration exceeding 9 years.</p><p><strong>Conclusions: </strong>Given the rarity of LCS, there are no standardized recommendations for adjuvant therapy, including radiotherapy and chemotherapy regimens for both localized and systemic disease. This case suggests that surgical excision followed by chemotherapy may be effective in preventing and controlling recurrence and systemic progression. Further research is needed to establish evidence-based management guidelines for LCS.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"146"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148724497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to \"Multi-agent pleurodesis: a new horizon in management\".","authors":"Eitetsu Koh, Yasuo Sekine","doi":"10.21037/acr-2026-0168","DOIUrl":"10.21037/acr-2026-0168","url":null,"abstract":"","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"157"},"PeriodicalIF":0.6,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148722309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete molecular response of left adrenal metastasis from pancreatic neuroendocrine tumor following stereotactic body radiation therapy: a case report.","authors":"Michael Aboujaoude, Jessica Frakes, Daniel Jeong, Sarah Hoffe, Mintallah Haider","doi":"10.21037/acr-2026-0126","DOIUrl":"https://doi.org/10.21037/acr-2026-0126","url":null,"abstract":"<p><strong>Background: </strong>While pancreatic neuroendocrine tumors (PNETs) often metastasize to the liver, adrenal gland involvement is uncommon. Management of adrenal metastases with stereotactic body radiation therapy (SBRT) is not common and outcomes are not well described. We report a case of metastatic PNET to the adrenal gland demonstrating sustained complete molecular response without anatomic resolution following SBRT within a multimodal treatment.</p><p><strong>Case description: </strong>A 48-year-old male patient was diagnosed in September 2023 with a well-differentiated grade 1 PNET. Initial imaging revealed an 8.9 cm centrally necrotic pancreatic tumor with diffuse peripancreatic infiltration and a biopsy proven 2.9 cm left adrenal metastasis. The tumor was somatostatin receptor (SSTR) positive (Krenning score 4) and was deemed surgically unresectable. Despite sequential treatment with capecitabine-temozolomide, followed by folinic acid, fluorouracil, and oxaliplatin (FOLFOX) and folinic acid, fluorouracil, and irinotecan (FOLFIRI), the adrenal lesion progressed, enlarging to 6.9 cm × 6.3 cm and demonstrated high-grade transformation to well-differentiated grade 3 (Ki-67 40%) by May 2025. The patient underwent SBRT to the left adrenal metastasis, receiving a total dose of 6,000 cGy in 5 fractions followed by systemic peptide receptor radionuclide therapy (PRRT) with ¹⁷⁷Lu-DOTATATE for primary pancreatic disease control. One month after SBRT, post-treatment imaging demonstrated reduction in adrenal lesion size (4.5 cm × 4.0 cm) with complete absence of radiotracer uptake. Follow-up imaging in December 2025 confirmed continued size reduction and persistent absence of SSTR uptake. At nearly 1-year post-SBRT, a repeat ⁶⁴Cu-DOTATATE positron emission tomography (PET)/computed tomography (CT) scan showed no left adrenal gland hypermetabolic activity consistent with a sustained complete molecular response despite persistent residual lesion size.</p><p><strong>Conclusions: </strong>This case of metastatic PNET to the left adrenal gland achieved complete molecular response without anatomic resolution nearly 1-year following ablative SBRT within a multimodal treatment strategy. SBRT may represent an effective local control strategy and therapeutic bridge in carefully selected patients undergoing multimodal treatment.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"183"},"PeriodicalIF":0.6,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endoscopic submucosal dissection for colitis cystica profunda in a 49-year-old woman: a case report with 52-month follow-up and sustained remission.","authors":"Liyu Guan, Rong Ouyang, Zhongzhuan Li, Wei Tang, Zhixin Chen","doi":"10.21037/acr-2026-0069","DOIUrl":"https://doi.org/10.21037/acr-2026-0069","url":null,"abstract":"<p><strong>Background: </strong>\u2028Colitis cystica profunda (CCP) is a rare benign colorectal lesion characterized by mucus-filled cysts within the submucosa. However, the durability of endoscopic submucosal dissection (ESD) for CCP beyond 48 months has not been documented. This case aims to fill that gap. ESD has emerged as a minimally invasive approach enabling both definitive diagnosis and treatment, but data on long-term efficacy remain limited, with no reported follow-up exceeding 48 months.</p><p><strong>Case description: </strong>A 49-year-old woman presented with a 6-month history of unformed stools. Colonoscopy revealed a submucosal mound-like lesion in the rectum, 5 cm from the anal verge. Endoscopic ultrasonography (EUS) showed hypoechoic areas (0.4 cm × 0.2 cm) confined to the muscularis mucosa and submucosa, suspicious for a neuroendocrine tumor. Routine laboratory tests (complete blood count, C‑reactive protein, carcinoembryonic antigen) were within normal limits. ESD was performed for en bloc resection. Histopathological examination demonstrated cystica dilated glands in the submucosa lined by benign colonic epithelium with surrounding fibrotic stroma and chronic inflammatory infiltration, confirming the diagnosis of CCP. No cytologic atypia was observed. The patient was followed with serial colonoscopy at 12, 40, and 52 months post-ESD, and with contrast‑enhanced magnetic resonance imaging (MRI) at 12 months. Functional outcomes were assessed using the Wexner Constipation Score (0/30) and 36-Item Short Form Health Survey (SF-36) questionnaire (scores comparable to population norms). All follow‑up examinations showed stable scar‑like changes without evidence of recurrence, and the patient maintained normal bowel habits (formed stools 1-2 times daily).</p><p><strong>Conclusions: </strong>This case provides preliminary evidence that ESD can achieve durable remission and excellent functional outcomes in a single patient with CCP over 52 months. However, these findings are from one case and require confirmation in larger, prospective studies.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"181"},"PeriodicalIF":0.6,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case report of ocular infection caused by <i>Aspergillus fumigatus</i>.","authors":"Guoqin Tao, Weiming Tang, Yilin Zhao, Yiming Ma, Yan Xu","doi":"10.21037/acr-2026-0116","DOIUrl":"10.21037/acr-2026-0116","url":null,"abstract":"<p><strong>Background: </strong><i>Aspergillus fumigatus</i> (<i>A. fumigatus</i>) can cause invasive infections in various sites of the body, including invasive pulmonary, hematogenous disseminated, and intracranial infections, posing substantial challenges for diagnosis and treatment. The methods of identification in this laboratory are worthy of study.</p><p><strong>Case description: </strong>A 44-year-old male was admitted to our hospital with a 1.5-month history of bilateral scleral icterus accompanied by progressive visual deterioration. The patient was previously diagnosed with acute liver failure [hepatitis B e-antigen (HBeAg)-negative chronic hepatitis B] at another hospital. During hospitalization, his vision in the left eye decreased. Slit-lamp examination during ophthalmologic consultation suggested left endophthalmitis, with concurrent suspicion of retinal detachment. Examinations at admission confirmed the presence of hepatitis B virus (HBV) DNA, acute liver failure (Child-Pugh Class C), moderate anemia. The levels of the inflammatory markers were significantly elevated, including interleukin (IL-6, IL-8, IL-1β), and interferon-gamma (IFN-γ). After obtaining informed consent, emergency vitrectomy of the left eye was performed, retinal detachment repositioning and laser photocoagulation for retinal lesions, cryotherapy for retinal lesions, and vitreous silicone oil implantation in the left eye. The vitreous was cultured, then identified using next-generation metagenomic sequencing (mNGS) technology, enabling the detection of <i>Aspergillus</i> within a short period of time. This enabled a rapid diagnosis of Aspergillus endophthalmitis, guiding subsequent clinical management. After undergoing anti-infection and liver-protective treatment, the patient's condition stabilized and he was discharged from the hospital.</p><p><strong>Conclusions: </strong>mNGS is a technology that can directly perform high-throughput sequencing of all the genetic material (DNA and/or RNA) of microorganisms in clinical samples (such as blood, bronchoalveolar lavage fluid, cerebrospinal fluid, etc.). The combination of mNGS and conventional detection methods effectively improves the detection rate of fungi.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"154"},"PeriodicalIF":0.6,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13466745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148723792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolated splenic metastases from colorectal carcinoma and pancreatic neuroendocrine tumor: a report of two rare cases.","authors":"Evan Cho, Amber Lee Chang, Ching-Kuo Chang","doi":"10.21037/acr-2026-0112","DOIUrl":"https://doi.org/10.21037/acr-2026-0112","url":null,"abstract":"<p><strong>Background: </strong>Splenic metastases usually historically signal pre-terminal malignancy, arising amid widespread tumor dissemination and most often discovered at autopsy. Isolated splenic metastases without disseminated disease are exceedingly rare, with only a limited number of cases reported in the literature. Recognizing these presentations is important as isolated splenic involvement may be amenable to definitive management in contrast to the poor prognosis associated with splenic spread.</p><p><strong>Case description: </strong>In this report, we present two patients with isolated splenic metastases. The first is an 83-year-old patient with splenic metastasis secondary to colorectal cancer. The second is a 29-year-old patient with splenic metastasis secondary to a pancreatic neuroendocrine tumor (PNET), which, to our knowledge, may represent a novel incidence. Neither patient had evidence of disseminated disease at presentation. In this case report, we review the clinical presentation, diagnostic workup, and management of both cases, each of which demonstrate a favorable short-term outcome.</p><p><strong>Conclusions: </strong>These cases taken together show that isolated splenic disease, when identified in the absence of widespread metastasis, can be operatively and chemically managed with favorable short-term results. The PNET patient in particular broadens the recognized spectrum of primary tumor locations that can metastasize to the spleen in isolation. Further reports and longer follow-ups, however, are needed to identify the optimal management and longer-term prognoses.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"180"},"PeriodicalIF":0.6,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin D-induced hypercalcemia and nephrolithiasis in a 58-year-old woman with biochemical findings suggestive of 24-hydroxylase deficiency: a case report.","authors":"John Martone, Susanne Trost","doi":"10.21037/acr-2026-0045","DOIUrl":"https://doi.org/10.21037/acr-2026-0045","url":null,"abstract":"<p><strong>Background: </strong>Hypercalcemia is most often caused by primary hyperparathyroidism and malignancies. Non-parathyroid hormone (PTH)-dependent hypercalcemia can be caused by abnormal vitamin D metabolism related to excess production from granulomatous disease, excess intake or defects in its degradation. Disturbance in vitamin D metabolism can lead to increased vitamin D sensitivity which can cause hypervitaminosis D at doses otherwise considered safe. Decreased 24-hydroxylase activity due to <i>CYP24A1</i> mutation leads to increase in 1,25-dihydroxyvitamin D [1,25(OH)₂D] and decreases in vitamin D degradation products. Although originally described in infancy and later during pregnancy, this case highlights a postmenopausal woman with no prior history who presented with hypercalcemia and nephrolithiasis after standard dose vitamin D supplementation with biochemical evidence of 24-hydroxylase (CYP24A1) deficiency.</p><p><strong>Case description: </strong>A 58-year-old woman presented with hematuria and abdominal pain secondary to nephrolithiasis. Laboratory studies revealed hypercalcemia, suppressed PTH, and markedly elevated 25-hydroxyvitamin D [25(OH)D] following standard vitamin D supplementation (2,000 international units/day). Her 1,25(OH)₂D level was high, and subsequent testing demonstrated an elevated 25(OH)D:24,25-dihydroxyvitamin D [24,25(OH)₂D] ratio, as biochemical evidence of CYP24A1 deficiency. Genetic testing was declined. Hypercalcemia improved with discontinuation of vitamin D, intravenous hydration, bisphosphonate therapy, and corticosteroids. The patient remained normocalcemic after stopping supplementation vitamin D until she developed mild recurrence following increased sun exposure seven months later.</p><p><strong>Conclusions: </strong>This case highlights hypercalcemia and nephrolithiasis triggered by standard-dose vitamin D supplementation in a previously asymptomatic woman with biochemical findings indicating CYP24A1 deficiency illustrating that the disorder may remain latent until challenged by exogenous or endogenous vitamin D excess. Although genetic testing remains the gold standard for diagnosis, a markedly elevated 25(OH)D:24,25(OH)₂D ratio (>80) is a useful biochemical marker for 24-hydroxylase deficiency.</p>","PeriodicalId":29752,"journal":{"name":"AME Case Reports","volume":"10 ","pages":"182"},"PeriodicalIF":0.6,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13659137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}