Journal of Medical Case Reports最新文献

{"title":"Scrub typhus with hemorrhagic stroke: a case report.","authors":"Om Prakash Bhatta, Sabita Chand, Hemant Chand, Prashant Bhetwal, Sachin Awasthi, Aruna Acharya, Ram Chandra Poudel","doi":"10.1186/s13256-024-04667-0","DOIUrl":"10.1186/s13256-024-04667-0","url":null,"abstract":"<p><strong>Background: </strong>Scrub typhus, caused by Orientia tsutsugamushi, rarely leads to central nervous system involvement. Although intracerebral bleeding is rare due to endemicity and a significant proportion of underdiagnoses, it should be considered a noteworthy differential diagnosis in endemic regions in patients with relevant history and clinical findings.</p><p><strong>Case presentation: </strong>We present the case of a 40-year-old Nepali woman who visited the emergency department with complaints of left-sided weakness for 6 hours and an acute febrile illness with an eschar for 7 days and was diagnosed with scrub typhus by immunoglobulin M enzyme-linked immunosorbent assay of the serum. Imaging revealed a right-sided frontotemporal hematoma, and further examination revealed pulmonary edema with multiple organ dysfunction syndrome. The patient was mechanically ventilated and was treated with antibiotics, steroids, vasopressors, and antipyretics. However, the hematoma was treated conservatively, with ongoing neurological recovery at the 6-month follow-up.</p><p><strong>Conclusion: </strong>Although neurological complications and intracranial hemorrhage are uncommon, physicians must be cautious when making differential diagnoses and initiating appropriate therapies to avoid serious or fatal complications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11282747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141766250","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":"Superficial temporal artery aneurysm misdiagnosed in a patient with long-term migraine headache treatment: a case report.","authors":"Meghdad Ghasemi Gorji, Ali Rafiei, Amirhossein Rajabi","doi":"10.1186/s13256-024-04647-4","DOIUrl":"10.1186/s13256-024-04647-4","url":null,"abstract":"<p><strong>Background: </strong>Superficial temporal artery aneurysm is a rare vascular abnormality without specific clinical symptoms. In this case report, we present the case of a patient with superficial temporal artery aneurysm who was diagnosed with migraine headache at first.</p><p><strong>Case presentation: </strong>A 60-year-old Iranian man with a previous history of headaches, who did not respond properly to the treatments following the initial diagnosis of migraine, presented with a painless lump in the left temporal region, and he was diagnosed with superficial temporal artery aneurysm via Doppler ultrasound. Finally, surgical removal of the left superficial temporal artery aneurysm was performed.</p><p><strong>Conclusions: </strong>This case shows the importance of vascular causes in the approach to headache etiologies, especially when the headache is prolonged without proper responses to treatment. Computed tomography angiography and magnetic resonance angiography are appropriate diagnostic methods for aneurysm detection that should be considered in future studies.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11274752/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759250","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":"Effect of exercise on cluneal nerve entrapment neuropathy: a case report.","authors":"Burcu Özüberk, Mine Argalı Deniz, Feray Cinevre Soyupek","doi":"10.1186/s13256-024-04641-w","DOIUrl":"10.1186/s13256-024-04641-w","url":null,"abstract":"<p><strong>Background: </strong>Low back pain is an important disability problem frequently encountered in the clinic. In the literature, it has been shown that neuropathic pain in chronic low back pain is quite common in patients. Although superior cluneal nerve entrapment syndrome is an underdiagnosed cause of low back and leg pain, differential diagnosis is very important anatomically and clinically. The superior cluneal nerves are pure sensory nerves that innervate the skin of the upper part of the buttocks. In the literature, methods such as surgery, nerve blockade, prolotherapy, and acupuncture have been used in the treatment of cluneal nerve entrapment syndrome, but there are no studies on exercise. In this case report, our aim is to explain the importance of differential diagnosis in cluneal nerve entrapment syndrome, which is one of the common causes of low back pain in the clinic, and the effects of exercise in this disease.</p><p><strong>Case presentation: </strong>A 22-year-old, Turkish-ethnicity, male patient with complaints of low back pain, neck-back pain, and weakness did not use alcohol or cigarettes. In his family history, there was a history of diabetes in the mother and diabetes and heart failure in the father. He had a history of osteoporosis, epilepsy, asthma, sarcoidosis, and cardiac arrhythmia. The patient reported that he suffered from constipation three to four times a month. As a result of the detailed evaluation, the planned exercise prescription was taught to the patient, and after it was confirmed that the patient did the exercises correctly for 3 days, the exercise brochure was given and followed as a home exercise program for 8 weeks.</p><p><strong>Conclusions: </strong>Lumbar stabilization exercises, gluteal muscle strengthening exercises, thoracolumbar fascia mobilization, and stretching exercises, which will be given in accordance with the clinical anatomy of the disease after the correct diagnosis in cluneal nerve entrapment syndrome, have been beneficial for the patient. However, we think that randomized controlled studies with a large sample will contribute to the literature.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11270947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141759249","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":"Usability of a novel Hounsfield units measurement procedure to quantify intercorporal bone graft remodeling in patients after posterior lumbar interbody fusion: a case series.","authors":"Joey F H Reijmer, Job L C van Susante, Moyo C Kruijt, Maarten J van Gorp, Lex D de Jong","doi":"10.1186/s13256-024-04655-4","DOIUrl":"10.1186/s13256-024-04655-4","url":null,"abstract":"<p><strong>Background: </strong>There is a lack of knowledge about the biological process of intercorporal bone graft remodeling after posterior lumbar interbody fusion surgery and whether this process is associated with changes in back pain and intercorporal fusion status. As an alternative to the commonly used but unreliable fusion criteria, Hounsfield units can be used to quantify biological activity and changes in bone mineral content. However, studies assessing Hounsfield units conducted to date do not provide sufficient details about how the bone grafts were segmented to measure the Hounsfield units to allow for replication, and did not assess individual patient trends in graft changes over time. Using the data of nine patients after posterior lumbar interbody fusion, a novel Hounsfield units measurement procedure was developed and used to explore its usability to quantify the bone graft remodeling process.</p><p><strong>Case details: </strong>We report a case series of nine patients (six male, three female, mean age 64 years, all Caucasian) who all had computed tomography scans performed at 1 and 2 years after posterior lumbar interbody fusion surgery. Overall, seven out of the nine (78%) cases had a 3-41% increase in their bone grafts' Hounsfield units between 1 and 2 years after surgery. The cases showed large interindividual variability in their Hounsfield units values over time, which coincided with varying levels of back pain and intercorporal fusion status.</p><p><strong>Conclusion: </strong>The Hounsfield units measurement procedure used for this case series may be useful to quantify intercorporal bone graft remodeling in patients after posterior lumbar interbody fusion, and may be used as an adjunct diagnostic measure to monitor bone graft remodeling over time. Future research is warranted to explore how to interpret bone graft Hounsfield units-values and Hounsfield units trajectories in light of clinical variables or intercorporal fusion status.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11267840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141751880","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 differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.","authors":"Elay Rabinovich, Anat Hershko-Klement, Yaakov Bentov","doi":"10.1186/s13256-024-04654-5","DOIUrl":"10.1186/s13256-024-04654-5","url":null,"abstract":"<p><strong>Background: </strong>17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet.</p><p><strong>Case presentation: </strong>Case I presents a 24-year-old Caucasian Israeli-Arab female who experienced 6 years of infertility. Before her initial visit to our clinic, she underwent three laparoscopic ovarian cystectomies, had an unsuccessful in vitro fertilization cycle, and was treated with combined oral contraceptives. Her hormonal profile was tested, and the results led to genetic counseling and the diagnosis of non-classical congenital adrenal hyperplasia. She was treated with estradiol, glucocorticoids, and transdermal testosterone. After hormonal levels were lowered, in vitro fertilization cycles were initiated, and the patient had a spontaneous ovulation. In case II, a 20-year-old Caucasian Israeli-Arab female presented for infertility evaluation owing to her oligomenorrhea. Her vitals and physical examination had normal results. The investigation of her abnormal hormonal profile led her to be referred to genetic testing, where the results showed the same genetic mutation as seen in case I.</p><p><strong>Conclusion: </strong>Both cases highlight the distinctiveness of the condition, where an identical mutation in the gene responsible for the same enzyme can bring about diverse phenotypes. Case I offers a potential treatment protocol for this rare disorder.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11265429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748433","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 rare case of trigeminal trophic syndrome with periorbital cellulitis and full-thickness upper eyelid defect in an undiagnosed patient with human immunodeficiency virus: a case report.","authors":"Stephen Apanga, Mohammed Alhassan, Bawa Abdulai","doi":"10.1186/s13256-024-04621-0","DOIUrl":"10.1186/s13256-024-04621-0","url":null,"abstract":"<p><strong>Background: </strong>Trigeminal trophic syndrome is a rare cranial and facial condition caused by damage to the central or peripheral branches of the trigeminal nerve. This syndrome consists of a triad of anesthesia, paresthesia, and crescent-shaped facial ulcer involving the ala nasi and sometimes extending to the upper lip. Although previous screening for human immunodeficiency virus in some patients with trigeminal trophic syndrome was negative, we present a unique case of trigeminal trophic syndrome who tested positive for human immunodeficiency virus with eye complications.</p><p><strong>Case presentation: </strong>We present a rare case of trigeminal trophic syndrome in a 44-year-old Black African woman who tested positive for human immunodeficiency virus. She presented with a 6-week history of progressive, persistent, and painless left sided facial and scalp ulcerations that started as small skin erosion. Diagnosis of trigeminal trophic syndrome was made on clinical grounds based on the triad of anesthesia, paresthesia, and unilateral crescent-shaped ulcer in the trigeminal dermatome and her past medical history. The ulcer healed completely after counseling and pharmacological therapy, but she later developed left periorbital cellulitis and left upper eyelid full-thickness defect.</p><p><strong>Conclusion: </strong>This is by far the first documented case of trigeminal trophic syndrome with a positive human immunodeficiency virus test. Testing for human immunodeficiency virus in patients with trigeminal trophic syndrome is necessary as this can help improve clinical management and treatment outcomes. Seeking the services of specialists remotely in resource constraint settings is beneficial for managing complications associated with trigeminal trophic syndrome.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11265085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734343","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":"Primary leiomyosarcoma of epididymis: a case report.","authors":"Hong-Jie Chen, Yao-Dong Han, Dong-Hai Li, Wu Li, Jun Zhang","doi":"10.1186/s13256-024-04660-7","DOIUrl":"10.1186/s13256-024-04660-7","url":null,"abstract":"<p><strong>Background: </strong>Leiomyosarcoma is a tumor that can develop in any organ that contains smooth muscles. Although leiomyosarcoma is common, its epididymal localization is quite rare.</p><p><strong>Case presentation: </strong>A 79-year-old male Chinese Han patient presented with mild pain in the right groin and scrotum for 3 years concomitant with right scrotal swelling. Ultrasonography and magnetic resonance imaging of the scrotum showed a irregular and heterogeneous mass that was extratesticular. Right high orchiectomy was performed, and pathological examination of the resected specimen confirmed the diagnosis of leiomyosarcoma of the epididymis with surgical margins clear of tumor.</p><p><strong>Conclusion: </strong>Epididymal leiomyosarcoma is rare and difficult to diagnose preoperatively. The final diagnosis of epididymal leiomyosarcoma requires histologic examination. Resection must be extensive and complete. The effect of chemotherapy and radiation on the epididymal leiomyosarcoma remains unclear. Recurrence is common, so follow-up is necessary.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734344","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":"Radiotherapy for subependymal giant cell astrocytoma: time to challenge a historical ban? A case report and review of the literature.","authors":"Randa Kamel, Dirk Van den Berge","doi":"10.1186/s13256-024-04649-2","DOIUrl":"10.1186/s13256-024-04649-2","url":null,"abstract":"<p><strong>Background: </strong>Subependymal giant cell astrocytoma is a benign brain tumor that occurs in patients with tuberous sclerosis complex. Surgical removal is the traditional treatment, and expert opinion is strongly against the use of radiotherapy. Recently, success has been reported with the mTor inhibitor everolimus in reducing tumor volume, but regrowth has been observed after dose reduction or cessation.</p><p><strong>Case report: </strong>We present the case of a 40-year-old Asian female patient treated successfully for growing bilateral subependymal giant cell astrocytoma with fractionated stereotactic radiotherapy before everolimus became available. After a follow-up of 8 years, everolimus was administered for renal angiomyolipoma and the patient was followed up until 13 years after radiotherapy. Successive magnetic resonance imaging demonstrated an 80% volume reduction after radiotherapy that increased to 90% with everolimus. A review of the literature was done leveraging Medline via PubMed, and we assembled a database of 1298 article references and 780 full-text articles in search of evidence for contraindicating radiotherapy in subependymal giant cell astrocytoma. Varying results of single-fraction radiosurgery were described in a total of 13 cases. Only in two published cases was the radiation dose of fractionated radiotherapy mentioned. One single publication mentions an induced secondary brain tumor 8 years after whole-brain radiotherapy.</p><p><strong>Conclusion: </strong>There is no evidence of contraindication and exclusion of fractionated radiotherapy in treating subependymal giant cell astrocytoma. Our experience demonstrates that subependymal giant cell astrocytoma, as other benign intracranial tumors, responds slowly but progressively to radiotherapy and suggests that fractionated stereotactic radiotherapy holds promise to consolidate responses obtained with mTor inhibitors avoiding regrowth after cessation.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141727223","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":"Dengue rhabdomyolysis successfully treated with hemoperfusion using CytoSorb® in combination with continuous renal replacement therapy: a case report.","authors":"Piyum Samarasingha, Harindra Karunatilake, Ananda Jayanaga, Hansani Jayawardhana, Dilshan Priyankara","doi":"10.1186/s13256-024-04661-6","DOIUrl":"10.1186/s13256-024-04661-6","url":null,"abstract":"<p><strong>Background: </strong>Dengue fever is a mosquito-borne viral infection with a broad spectrum of clinical manifestations. Expanded dengue syndrome includes unusual manifestations that do not fall into the categories of dengue fever, dengue hemorrhagic fever, or dengue shock syndrome. Rhabdomyolysis causing acute renal failure in dengue is one such unusual manifestation, the pathophysiology of which is incompletely understood.</p><p><strong>Case presentation: </strong>We describe a 21-year-old Sri Lankan man with dengue fever who developed severe rhabdomyolysis and acute kidney injury with extremely high creatinine phosphokinase levels (> 2 million U/L). Management of this patient was challenging as his creatinine phosphokinase kept rising with persistent anuria despite hydration, intermittent hemodialysis, and, later, continuous venovenous hemodiafiltration. Further therapeutic options were explored, and CytoSorb® adsorber was added as an adjunct to continuous venovenous hemodiafiltration, following which we observed a marked reduction in his creatinine phosphokinase and myoglobin levels over the next 12 hours and complete renal recovery over the next 5 weeks.</p><p><strong>Conclusion: </strong>We report a rare case of significant rhabdomyolysis secondary to dengue infection leading to acute kidney injury. Continuous venovenous hemodiafiltration performed with the hemofilter Pecopen 140 was ineffective, and the addition of CytoSorb® adsorber as an adjunct therapy to continuous venovenous hemodiafiltration may have a potential benefit in removing high-molecular-weight proteins such as myoglobin.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11264817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723777","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":"Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.","authors":"Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta","doi":"10.1186/s13256-024-04638-5","DOIUrl":"10.1186/s13256-024-04638-5","url":null,"abstract":"<p><strong>Background: </strong>Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha-glucosidase is the standard of care; however, some patients develop anti-recombinant human acid alpha-glucosidase antibodies, leading to reduced efficacy. This case report presents two infants with early-onset Pompe disease who developed IgG antibodies to enzyme replacement therapy and were subsequently treated with methotrexate, highlighting the importance of monitoring antibody development and exploring alternative therapeutic approaches.</p><p><strong>Case presentation: </strong>Patient 1, a 10-month-old female from Bogota, Colombia, presented with generalized hypotonia, macroglossia, hyporeflexia, and mild left ventricular hypertrophy. Diagnostic tests confirmed early-onset Pompe disease, and enzyme replacement therapy was started at 12 months. Due to a lack of improvement and high anti-recombinant human acid alpha-glucosidase IgG antibody titers (1:1800), methotrexate was started at 18 months. After 8 months of combined therapy, antibody titers were negative and significant improvement in motor function was observed using the Gross Motor Function Measure 88. Patient 2, a 7-year-old female from Bogota, Colombia, was diagnosed with early-onset Pompe disease at 12 months and initiated enzyme replacement therapy. At 5 years of age, she experienced frequent falls and grip strength alterations. Functional tests revealed motor development delay, generalized hypotonia, and positive anti-recombinant human acid alpha-glucosidase IgG antibody titers (6400). Methotrexate was initiated, leading to a reduction in falls and antibody titers (3200) after 6 months, with no adverse events or complications. Motor function improvement was assessed using the Motor Function Measurement 32.</p><p><strong>Conclusions: </strong>The presented cases highlight the importance of monitoring patients for anti-recombinant human acid alpha-glucosidase antibody development during enzyme replacement therapy and the potential benefit of methotrexate as an immunomodulatory agent in early-onset Pompe disease. Early diagnosis and timely initiation of enzyme replacement therapy, combined with prophylactic immune tolerance induction, may improve clinical outcomes and reduce the development of anti-recombinant human acid alpha-glucosidase antibodies. The cases also highlight the importance of objective motor function assessment tools, such as Gross Motor Function Measure 88 and Motor Function Measurement 32, in assessing treatment response. Further research is needed to optimize treatment regimens, monitor long-term effects, and address the current limitations of enzyme replacement therapy in Pompe disease.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11256466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633699","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}