Case Reports in Neurology最新文献

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Unilateral Anterior Spinal Artery Syndrome following Spinal Anesthesia for Cesarian Section: A Case Report. 剖腹产脊髓麻醉后单侧脊髓前动脉综合征:病例报告。
IF 0.6
Case Reports in Neurology Pub Date : 2024-05-22 eCollection Date: 2024-01-01 DOI: 10.1159/000539405
Matthew J Kraus, Joseph Nguyen
{"title":"Unilateral Anterior Spinal Artery Syndrome following Spinal Anesthesia for Cesarian Section: A Case Report.","authors":"Matthew J Kraus, Joseph Nguyen","doi":"10.1159/000539405","DOIUrl":"10.1159/000539405","url":null,"abstract":"<p><strong>Introduction: </strong>Spinal cord infarction is a rare but serious neurologic complication of spinal anesthesia. Direct vessel injury, intra-arterial anesthetic injection, and anesthetic-induced local hypotension are potential mechanisms of infarction during this procedure. The proximity of the artery of Adamkiewicz to the spinal levels used for spinal anesthesia may also play a role. This case of unilateral anterior spinal artery syndrome highlights the potential for an atypical pattern of injury and deficits due to the complexity of the spinal cord's anterior circulation.</p><p><strong>Case presentation: </strong>We present a 38-year-old female patient who presented with left lower extremity weakness, loss of temperature sensation, and urinary retention following spinal anesthesia for cesarian section. Magnetic resonance imaging of the spine demonstrated T2 hyperintensities in the left central spinal cord from T8 to the conus medullaris. A diagnosis of spinal cord infarction was made after lumbar puncture testing showed no evidence of inflammatory myelitis. The patient was treated with steroids empirically until lumbar puncture testing showed no inflammation. The patient was discharged on daily aspirin with persistent left lower extremity weakness and loss of temperature sensation. A plan for outpatient physical therapy was made for rehabilitation.</p><p><strong>Conclusion: </strong>Awareness of the potential for spinal cord infarction secondary to spinal anesthesia must increase among anesthesiologists, obstetricians, and neurologists. The risk of systemic hypotension during and after spinal anesthesia is important to recognize for both primary and secondary prevention of this complication. The hyperacute onset of myelopathic symptoms should point neurologists to investigate an ischemic etiology in the proper clinical context.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626175","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}
引用次数: 0
External laryngeal tremor in adult-onset Alexander disease 成人亚历山大病的喉外震颤
IF 0.7
Case Reports in Neurology Pub Date : 2024-05-03 DOI: 10.1159/000539038
J. Gazulla, A. Rodríguez-Valle, Leonor María Calatayud-Lallana, José Berciano
{"title":"External laryngeal tremor in adult-onset Alexander disease","authors":"J. Gazulla, A. Rodríguez-Valle, Leonor María Calatayud-Lallana, José Berciano","doi":"10.1159/000539038","DOIUrl":"https://doi.org/10.1159/000539038","url":null,"abstract":"Introduction. Alexander disease is caused by mutations in GFAP, the glial fibrillary acidic protein gene. External laryngeal tremor has not been reported in adult-onset Alexander disease (AOAxD). The aims of this work were to report one such case, and to review the literature on palatolaryngeal tremor and AOAxD.\u0000Case presentation. A 43-year-old man experienced involuntary movements at the front of his neck. Continuous, rhythmic vertical movements of the laryngeal skeleton, soft palate and tongue, and lower-limb dysmetria, were observed. The pathogenic GFAP variant, c.994G>A; p.(Glu332Lys) was found. MRI demonstrated spinal cord and medulla oblongata atrophy, and hyperintensities at the cerebellum and cerebral white matter.\u0000Conclusion. External laryngeal and palatopharyngeal tremor, and cerebellar ataxia, constituted a mild phenotype as expected from this variant, herein reported in isolation for the third time. Imaging was consistent with AOAxD, including the so-called tadpole sign. Additional studies are necessary to define this infrequent disease.\u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141016695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe relapsing autoimmune encephalitis with GABAA receptor, titin and AchR antibodies in a patient with thymoma: a case report 胸腺瘤患者伴有 GABAA 受体、titin 和 AchR 抗体的严重复发性自身免疫性脑炎:病例报告
IF 0.7
Case Reports in Neurology Pub Date : 2024-05-03 DOI: 10.1159/000539186
Melissa Boisclair, Charlotte Robitaille, A. Budhram, Amy C. Kunchok, Hugo Chapdelaine, Laurent Létourneau-Guillon, Gabrielle Macaron, Catherine Larochelle
{"title":"Severe relapsing autoimmune encephalitis with GABAA receptor, titin and AchR antibodies in a patient with thymoma: a case report","authors":"Melissa Boisclair, Charlotte Robitaille, A. Budhram, Amy C. Kunchok, Hugo Chapdelaine, Laurent Létourneau-Guillon, Gabrielle Macaron, Catherine Larochelle","doi":"10.1159/000539186","DOIUrl":"https://doi.org/10.1159/000539186","url":null,"abstract":"Introduction: We report a challenging case of autoimmune encephalitis in a patient with a thymoma harboring titin and acetylcholine receptor antibodies, who experienced multiple relapses despite thymectomy and aggressive first-line immunotherapy, and for whom GABAA receptor antibodies were ultimately identified.\u0000\u0000Case presentation: This 40-year-old man presented with headaches, weakness, diplopia, hearing loss and seizures progressing to status epilepticus. Brain MRI showed multifocal cortical and subcortical T2/fluid attenuated inversion recovery hyperintense lesions without enhancement. Initial neural antibody testing identified only acetylcholine receptor and titin antibodies. He presented multiple severe relapses despite complete thymoma resection, intravenous methylprednisolone with immunoglobulins or plasmapheresis, and mycophenolate mofetil. Second-line immunotherapy with rituximab was successful to alleviate symptoms and normalize the EEG and MRI after identification of anti-GABAA receptor antibodies on more comprehensive neural antibody testing for autoimmune encephalitis. \u0000\u0000Conclusion: This case demonstrates the complexity and importance of identifying pathogenic antibodies and selecting 2nd line treatment accordingly in patients with autoimmune encephalitis when multiple antibodies coexist. Despite tumor resection, aggressive immunotherapy may be needed to prevent further deterioration in anti-GABAA receptor encephalitis.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141016828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High Doses of Caffeine-Induced Cerebral Infarction Leading to Partial Locked-In Syndrome in a Young Adult: A Novel Association? 大剂量咖啡因诱发脑梗塞,导致一名年轻成人出现部分锁定综合征:一种新的关联?
IF 0.7
Case Reports in Neurology Pub Date : 2024-04-23 DOI: 10.1159/000538950
Vijay Sinha, Loc Lam, Michael Nguyen
{"title":"High Doses of Caffeine-Induced Cerebral Infarction Leading to Partial Locked-In Syndrome in a Young Adult: A Novel Association?","authors":"Vijay Sinha, Loc Lam, Michael Nguyen","doi":"10.1159/000538950","DOIUrl":"https://doi.org/10.1159/000538950","url":null,"abstract":"This is a case of a 30-year-old male with no prior medical conditions presented to the emergency department for presumed seizures after ingesting 900 mg of caffeine via pre-workout drinks and pills. Patient was described as having nearly 15 minutes of generalized seizure activity observed by emergency medical service, requiring midazolam. A head computerized tomography (CT) demonstrated a possible thrombus, and further, CT angiography and CT perfusion confirmed a basilar artery occlusion. He was treated with tissue plasminogen activator (tPA) and underwent thrombectomy achieving TICI grade 3 in the left posterior cerebral artery and TICI grade 2b in the superior cerebellar artery. Unfortunately, the patient experienced a hemorrhagic conversion leading to an incomplete locked-in syndrome. This case report suggests a novel association between energy drinks and caffeine supplements as potential etiologies for rapid onset on cerebrovascular incidents.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140667548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The rehabilitation for visual cognitive impairment due to hippocampal infarction: a case report 海马脑梗塞所致视觉认知障碍的康复治疗:病例报告
IF 0.7
Case Reports in Neurology Pub Date : 2024-04-17 DOI: 10.1159/000538915
Tomoo Mano, Sakura Kirimura, Yuto Uchihara, Hideki Takashima, Takashi Masuda
{"title":"The rehabilitation for visual cognitive impairment due to hippocampal infarction: a case report","authors":"Tomoo Mano, Sakura Kirimura, Yuto Uchihara, Hideki Takashima, Takashi Masuda","doi":"10.1159/000538915","DOIUrl":"https://doi.org/10.1159/000538915","url":null,"abstract":"Introduction: Disturbances in the visual pathway cause visual cognitive impairment. There is a lack of information regarding the effect of rehabilitation on individuals affected by this condition. Therefore, it is crucial to understand the effectiveness of rehabilitation interventions in this condi-tion. Case Presentation: We present the case of an 87-year-old woman with hippocampal infarction. While the patient’s ability to perform daily activities and engage in conversations was normal, she faced challenges at the execution stage, such as naming, constructing sentences, and copying. We diagnosed cerebral embolism because of atrial fibrillation and initiated direct oral anticoagulant therapy. Subsequently, we initiated a rehabilitation treatment comprising visual agnosia training (attribute learning training), verbalization learning training (writing training), and semantic memory training (copying training) to address visual agnosia. Conclusion: Associative visual perception challenges arising from hippocampal infarcts are rare and can be improved with early intervention through a rehabilitation program for visual agnosia.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140691438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surgery for Obsessive-Compulsive Disorder and Transient Tremors as Newly Reported Side Effect; First Psychiatric Neurosurgery in Egypt 强迫症手术和新报告的短暂震颤副作用;埃及首次精神神经外科手术
IF 0.7
Case Reports in Neurology Pub Date : 2024-04-10 DOI: 10.1159/000538331
Hussein Hamdi, Hend Mohamed Aref
{"title":"Surgery for Obsessive-Compulsive Disorder and Transient Tremors as Newly Reported Side Effect; First Psychiatric Neurosurgery in Egypt","authors":"Hussein Hamdi, Hend Mohamed Aref","doi":"10.1159/000538331","DOIUrl":"https://doi.org/10.1159/000538331","url":null,"abstract":"Abstract\u0000Introduction: The use of surgery for treatment of psychiatric conditions is a well-established strategy, especially in severe and resistant obsessive-compulsive disorder. Attractive anatomical and functional targets for stereotactic surgery are reported in some studies. Surgery for treatment of psychiatric conditions in our nation and Arab world is obscured and hidden because of several social and cultural limitations which should be overcome. We report here the first psychiatric neurosurgery in our nation and how we overcome such community limitation. This the first report of postoperative tremor.\u0000\u0000Case Presentation: Young patient presented with severe and persistent obsessive-compulsive disorder resistant to all non-surgical modalities for several years. Stereotactic ablation surgery was done under local anaesthesia. Marked improvement in our obsessive-compulsive disorder patient after psychiatric neurosurgery with self-limited tremor which was not reported before in the literature. The medications were the same before and immediate after surgery and this is not a drug-induced tremor. Postoperative YBOCS showed 90% of improvement.\u0000\u0000Conclusion: Surgery-induced tremor could be a self-limited side effect after surgery in obsessive compulsive disorder. Safety and efficacy should be promoted in our nation and Arab world. Society and cultural limitations should be overcome by further research studies, intervention, and activism in the field of mental health systems in our nation and Arab countries to improve awareness. \u0000\u0000","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140718436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Survival from rhino-orbital-cerebral mucormycosis in SARS-COV-2 positive diabetic patients: Two case reports SARS-COV-2阳性糖尿病患者从鼻眶脑粘液瘤病中存活下来:两例报告
IF 0.7
Case Reports in Neurology Pub Date : 2024-04-02 DOI: 10.1159/000538539
Claudia Lädrach, Martin Wartenberg, Stefan Zimmerli, L. Anschütz, Stefan Bohlen, Julian Ebner, Claire M. F. de Gouyon Matignon de Pontouraude, Marco Caversaccio, Franca Wagner
{"title":"Survival from rhino-orbital-cerebral mucormycosis in SARS-COV-2 positive diabetic patients: Two case reports","authors":"Claudia Lädrach, Martin Wartenberg, Stefan Zimmerli, L. Anschütz, Stefan Bohlen, Julian Ebner, Claire M. F. de Gouyon Matignon de Pontouraude, Marco Caversaccio, Franca Wagner","doi":"10.1159/000538539","DOIUrl":"https://doi.org/10.1159/000538539","url":null,"abstract":"Introduction\u0000Rhino-orbital-cerebral mucormycosis (ROCM) is a rare angioinvasive fungal infection known to be associated with high morbidity and over 50% mortality. ROCM is becoming more common due to an increase in predisposing immunocompromising comorbidities as well as COVID-19. \u0000Case Presentations\u0000We report two cases – a 75-year-old woman with diabetes and a 39-year-old man with recurrent diabetic ketoacidosis. Both presented initially with acute sinonasal symptoms, were positive for SARS-CoV-2, and diagnosed with acute ROCM. Both underwent mutilating surgical therapy as well as high-dose amphotericin B treatment. With continued oral antifungal treatment, Patient 1 showed stable symptoms despite radiographically increasing disease and died of urosepsis 5 months after first surgery. With posaconazole treatment, Patient 2 recovered from the disease and showed no clinical sign of disease progression after 1 year.\u0000Conclusion\u0000Despite the rarity of the disease, ROCM should be considered if the findings of clinical and radiological examination fit, so that a delay in treatment initiation can be avoided. As our both cases show, survival from ROCM is possible – albeit at a high cost.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
No Efficacy with Noninvasive Brain Stimulation for Painful Legs and Moving Toes: A Case Report. 无创脑电刺激治疗疼痛腿和移动脚趾无效:病例报告。
IF 0.7
Case Reports in Neurology Pub Date : 2024-02-28 eCollection Date: 2024-01-01 DOI: 10.1159/000536467
Anna Brück, Jaakko Pullinen, Janne Nummelin, Saara Lehto, Juho Joutsa
{"title":"No Efficacy with Noninvasive Brain Stimulation for Painful Legs and Moving Toes: A Case Report.","authors":"Anna Brück, Jaakko Pullinen, Janne Nummelin, Saara Lehto, Juho Joutsa","doi":"10.1159/000536467","DOIUrl":"10.1159/000536467","url":null,"abstract":"<p><strong>Introduction: </strong>Painful legs and moving toes (PLMT) is a rare neurological disorder characterized by neuropathic pain and involuntary movements in the lower limbs. The pathophysiological mechanisms are unclear, but central mechanisms might be involved, suggesting that noninvasive brain stimulation might be helpful. Thus far, no reports have been published on noninvasive brain stimulation to treat PLMT.</p><p><strong>Case presentation: </strong>A 70-year-old female had a 1-year history of PLMT. After several unsuccessful medical attempts, the patient received repetitive transcranial magnetic stimulation and transcranial direct current stimulation to alleviate the pain and involuntary movements with no benefit.</p><p><strong>Conclusion: </strong>This is the first report on noninvasive brain stimulation in a PLMT patient. Although ineffective in our patient, noninvasive brain stimulation should be further studied in this often difficult to treat and debilitating syndrome.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10948166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140157657","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}
引用次数: 0
Repetitive Transcranial Magnetic Stimulation for Major Depressive Disorder in Huntington Disease Patient with Improvement in Neuropsychiatric and Movement Symptoms: A Case Report. 重复经颅磁刺激治疗亨廷顿病患者的重度抑郁症并改善其神经精神和运动症状:病例报告。
IF 0.7
Case Reports in Neurology Pub Date : 2024-02-14 eCollection Date: 2024-01-01 DOI: 10.1159/000537750
Cheyenne Rahn, Kris Peterson, Elizabeth Lamb
{"title":"Repetitive Transcranial Magnetic Stimulation for Major Depressive Disorder in Huntington Disease Patient with Improvement in Neuropsychiatric and Movement Symptoms: A Case Report.","authors":"Cheyenne Rahn, Kris Peterson, Elizabeth Lamb","doi":"10.1159/000537750","DOIUrl":"10.1159/000537750","url":null,"abstract":"<p><strong>Introduction: </strong>Huntington disease (HD) is a progressive disorder characterized by significant neurodegeneration that results in severe neuropsychiatric symptoms and disordered movement. Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive treatment that has been used in major depressive disorder (MDD) with great success.</p><p><strong>Case presentation: </strong>We present a case of a patient with newly diagnosed HD, persistent MDD with suicidal ideation, and generalized anxiety disorder who was treated with rTMS and had sustained significant improvement of her mood disorder with additional improvement of her movement disorder.</p><p><strong>Conclusion: </strong>This result brings into question the use of rTMS to treat MDD and chorea in patients with HD, especially early in its course.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939509/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140130803","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}
引用次数: 0
Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report. 未经治疗的典型半乳糖血症--成人型进行性小脑共济失调的罕见病因:病例报告。
IF 0.7
Case Reports in Neurology Pub Date : 2024-02-07 DOI: 10.1159/000536679
Ioannis Karafyllis, J. Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer
{"title":"Untreated Classic Galactosemia – a rare cause of adult-onset progressive cerebellar ataxia: A case report.","authors":"Ioannis Karafyllis, J. Nuoffer, Joan-Philipp Michelis, Lara Chilver-Stainer","doi":"10.1159/000536679","DOIUrl":"https://doi.org/10.1159/000536679","url":null,"abstract":"Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia. Case Presentation: A 39-year-old woman was hospitalized for progressive ataxia with pyramidal and cognitive dysfunction after a right arm shaking and coordination problem deteriorated progressively over 1.5 years. The patient's medical history included amenorrhea, cataracts, developmental delays, consanguinity of the parents, motor coordination issues, and diarrhea and vomiting in infancy. An important finding that enabled us to solve the diagnostic conundrum was the elevated CDT levels in the lack of alcohol-related symptoms, which also occur in untreated carbohydrate metabolism disorders, sometimes with ataxia as a leading symptom. The decreased erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity and the elevated erythrocyte galactose-1-phosphate (Gal-1P) concentration led to the final diagnosis of galactosemia, a rare metabolic disorder. The patient's condition stayed stable with strict adherence to lactose-free and galactose-restricted diets, regular physiotherapy, and speech therapy, despite attempts to control the crippling tremor. Conclusion: This case highlights the importance of considering rare diseases based on unexplained clinical and laboratory findings. Newborn screening does not change the long-term complications of early-treated classical galactosemia. A small percentage of these patients develop ataxia tremor syndrome.","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":null,"pages":null},"PeriodicalIF":0.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139798154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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