Brain and Development Case Reports最新文献

{"title":"Pediatric Opsoclonus myoclonus syndrome with improvement of symptoms and decrease in cerebrospinal fluid B cell percentage after Rituxmab administration: Case report","authors":"Eri Inoue ,&nbsp;Sae Nishisho ,&nbsp;Noriko Fuke ,&nbsp;Takayuki Wakabayashi ,&nbsp;Yukihiko Konishi ,&nbsp;Takashi Kusaka","doi":"10.1016/j.bdcasr.2024.100037","DOIUrl":"10.1016/j.bdcasr.2024.100037","url":null,"abstract":"<div><h3>Introduction</h3><p>Opsoclonus myoclonus syndrome (OMS) is a rare neurological disorder that presents with opsoclonus, ataxia or myoclonus, behavioral changes, or sleep disturbances. Cognitive and behavioral deficits are the most problematic sequelae in pediatric patients with OMS. Patients with OMS often have increased cerebrospinal fluid (CSF) B cell counts, which are considered a biomarker of disease activity and may be an important indicator in selecting optimal treatment.</p></div><div><h3>Case report</h3><p>A 1-year-and-5-month-old boy diagnosed with paraneoplastic OMS was started on immunotherapy with intravenous immunoglobulin and dexamethasone (DEX) pulse therapy 3 months after disease onset. After one course of DEX pulse therapy, rituximab (RTX) was added due to a worsening of symptoms, resulting in an OMS Rating Scale score of 13. Two weeks after starting RTX therapy, the patient's symptoms started to improve, and he was able to walk 5 months later. The percentage of B cells in the CSF was 10.7 % before the introduction of RTX therapy but decreased to 0.16 % 3 months after starting RTX therapy. The patient achieved remission 12 months after the disease onset and had no recurrence.</p></div><div><h3>Conclusion</h3><p>The high percentage of B-cells in the patient's CSF indicated severe disease activity. Remission could have been achieved sooner if RTX had been administered earlier. CSF lymphocyte subset analysis should be performed aggressively in OMS as it is a potential indicator for RTX introduction.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100037"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000333/pdfft?md5=7d9f9ef0bdf7851f1dc683fc7ae070c9&pid=1-s2.0-S2950221724000333-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162283","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":"Cranial polyneuropathy secondary to retropharyngeal abscess in an adolescent: Multidisciplinary management and clinical resolution","authors":"Timothy Mathieson ,&nbsp;Alexandre Piletta-Zanin ,&nbsp;Serge Daniel Le Bon ,&nbsp;Basile Nicolas Landis ,&nbsp;Hélène Cao Van ,&nbsp;Christian Korff","doi":"10.1016/j.bdcasr.2024.100035","DOIUrl":"10.1016/j.bdcasr.2024.100035","url":null,"abstract":"<div><h3>Introduction</h3><p>Cranial nerve deficits are a rare but described complication of infection in the deep spaces of the neck and their optimal management remains unclear.</p></div><div><h3>Case report</h3><p>We present the case and clinical resolution of a fifteen-year-old male with multiple cranial nerve deficits in the setting of a retropharyngeal abscess. Cranial nerve IX involvement was postulated based on gustatory testing and clinical resolution was achieved after surgical management.</p></div><div><h3>Conclusion</h3><p>We believe that this case underscores that cranial polyneuropathy associated with deep neck space infections should warrant a comprehensive approach with specific consideration for surgical decompression if maximal medical treatments fails.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100035"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172400031X/pdfft?md5=a5cbe70c4a48df44f7453c45b9f1ef41&pid=1-s2.0-S295022172400031X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162282","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":"Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature","authors":"Kai Ma ,&nbsp;Yi Lu ,&nbsp;Dong Wang ,&nbsp;Xiao Han ,&nbsp;Lei Liang ,&nbsp;Yuanyuan Zhang","doi":"10.1016/j.bdcasr.2024.100039","DOIUrl":"10.1016/j.bdcasr.2024.100039","url":null,"abstract":"<div><h3>Background</h3><p>There is a risk of secondary communicating hydrocephalus in patients with 5q spinal muscular atrophy (SMA) treated with intrathecal nusinersen. The benefits and risks of intrathecal nusinersen treatment in SMA type 3 patients with ventriculoperitoneal shunt (VPS) due to hydrocephalus are unknown.</p></div><div><h3>Case report</h3><p>A female patient was diagnosed with hydrocephalus at 6 months owing to a progressive increase in head circumference and underwent VPS treatment at 7 months. Motor function development was delayed, and she was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen treatment was initiated when the patient was 51 months old. The results of the motor function rating scales showed significant improvement after 28 months of follow-up, and a CT scan of the head showed relief of the hydrocephalus. Serious adverse reactions were not observed.</p></div><div><h3>Conclusion</h3><p>Intrathecal nusinersen treatment is effective and safe after VPS surgery in SMA type 3 patients. Hydrocephalus is not a contraindication for intrathecal nusinersen treatment in SMA patients.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100039"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000357/pdfft?md5=a43000bcbdca06f80a06e7fc3860978e&pid=1-s2.0-S2950221724000357-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172841","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":"Reversible bilateral ptosis after levetiracetam administration in a 4-year-old girl: A case report","authors":"Takato Akiba ,&nbsp;Taiki Shima ,&nbsp;Shino Shimada ,&nbsp;Mitsuru Ikeno ,&nbsp;Shinpei Abe ,&nbsp;Ken Takahashi","doi":"10.1016/j.bdcasr.2024.100051","DOIUrl":"10.1016/j.bdcasr.2024.100051","url":null,"abstract":"<div><h3>Background</h3><div>Levetiracetam (LEV) is a frequently prescribed antiseizure medication for focal epilepsy in children because of its high efficacy and relatively mild side effects. We report a case of reversible bilateral ptosis following LEV administration.</div></div><div><h3>Case presentation</h3><div>A 4-year-old girl presented with unprovoked focal to bilateral tonic-clonic seizures, which had occurred at least twice since the age of 3 years and 10 months. The patient was initially diagnosed with focal epilepsy, and was treated with LEV at a dose of 20 mg/kg/day. After one week of treatment, the patient developed bilateral ptosis without diurnal fluctuation. After a month, LEV was discontinued and the patient's treatment was changed to perampanel. Various tests were performed to rule out myasthenia gravis; however, no significant findings were observed. The patient's ptosis gradually improved over the three months following the cessation of LEV.</div></div><div><h3>Conclusion</h3><div>Although an exact causal relationship is challenging, the clinical course suggests that LEV may induce ptosis in patients with focal epilepsy. Herein, we report detailed clinical information because ptosis is not a known side effect of LEV treatment; therefore, understanding this newfound side effect is important given the widespread use of LEV.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100051"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142655291","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":"Acute proximal weakness after cochlear implant: Riboflavin transporter deficiency onset in child","authors":"Cristina Villar-Vera ,&nbsp;Mika Aiko-Gesler ,&nbsp;Lucía Monfort Belenguer ,&nbsp;Ana Cuesta Peredo ,&nbsp;Manuel de Entrambasaguas","doi":"10.1016/j.bdcasr.2024.100045","DOIUrl":"10.1016/j.bdcasr.2024.100045","url":null,"abstract":"<div><h3>Background</h3><div>Riboflavin transporter deficiencies (RTDs) are treatable progressive neurodegenerative disorders that present with symptoms including weakness, ataxia and neurosensory hearing loss. Once converted to the flavin cofactor, riboflavin plays a pivotal role in redox metabolic reactions. Similarly to classical mitochondrial diseases, stress may act as a trigger for disease progression.</div></div><div><h3>Case presentation</h3><div>The subject is a 3-year-old girl with initially normal development who experienced language regression due to sensorineural deafness at 20 months old. One year later, the patient experienced an acute episode of asymmetric proximal weakness following cochlear implant surgery. All metabolic, immunological, and neuroimaging studies were normal. Serial electromyography studies revealed a rapidly progressive axonal sensory-motor neuropathy affecting the upper limbs. In search of treatable conditions, riboflavin was initiated, and later on, compound heterozygous pathogenic variants in SLC52A2 were identified.</div></div><div><h3>Conclusion</h3><div>This report describes the clinical and electromyography findings of this patient during the four years following diagnosis.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100045"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526798","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":"Sibling cases of DEPDC5-related developmental and epileptic encephalopathy successfully treated with lacosamide","authors":"Chiho Tokorodani ,&nbsp;Ritsuo Nishiuchi ,&nbsp;Fuyuki Miya ,&nbsp;Katsuhiro Kobayashi ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2024.100044","DOIUrl":"10.1016/j.bdcasr.2024.100044","url":null,"abstract":"<div><h3>Background</h3><div><em>DEPDC5</em> is a causative gene for various familial focal epilepsies. We report the cases of two Japanese sisters with <em>DEPDC5</em>-related epilepsy presenting as developmental and epileptic encephalopathy (DEE) that were successfully treated with lacosamide as add-on therapy.</div></div><div><h3>Patients</h3><div>The elder sister had focal tonic seizures at 3 years 10 months old. Long-term video-electroencephalography (EEG) monitoring disclosed that she also had atypical absence seizures with asymmetric generalized slow spike-and-wave complexes, leading to a diagnosis of Lennox-Gastaut syndrome (LGS). Zonisamide, levetiracetam, and sodium valproate (VPA) failed to resolve her seizures, but subsequent lacosamide (LCM) treatment effectively stopped them. At 4 years and 6 months of age, her development was normal. Her younger sister had experienced epileptic spasms at 4 months of age. Her interictal EEG showed hypsarrhythmia, leading to a diagnosis of infantile epileptic spasms syndrome (IESS). VPA was partially effective at decreasing her epileptic spasms, and an add-on therapy of LCM finally suppressed her seizures with normalization of her EEG. At 1 year and 2 months of age, she had developed normally without seizures. The two sisters' brain MRI findings eventually became unremarkable. Trio-based whole-exome sequencing identified a heterozygous germline variant in the <em>DEPDC5</em> gene (NM_001242896: exon37: c.3751delT: p.F1251fs) in both sisters and their asymptomatic mother, illustrating the variant's incomplete penetrance.</div></div><div><h3>Conclusion</h3><div>The <em>DEPDC5</em> variant can be causative for LGS and IESS with no malformations of cortical development. LCM may be effective for drug-resistant <em>DEPDC5</em>-related DEE.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100044"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526797","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":"Transmantle heterotopia associated with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in an adolescent male patient","authors":"Sachiho Saito ,&nbsp;Toshiki Nakamura ,&nbsp;Aki Kawakami ,&nbsp;Sahoko Miyama ,&nbsp;Mikako Enokizono ,&nbsp;Tatsuo Kono ,&nbsp;Hiroshi Hataya","doi":"10.1016/j.bdcasr.2024.100047","DOIUrl":"10.1016/j.bdcasr.2024.100047","url":null,"abstract":"<div><h3>Background</h3><div>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common type of acute encephalopathy. It occurs frequently in infants but rarely in teenagers. More than half of patients with AESD have neurological sequelae, but there are few, evidence-based treatments. Transmantle heterotopia is a rare type of gray matter heterotopia. We report herein a case of transmantle heterotopia with suspected involvement in AESD.</div></div><div><h3>Case report</h3><div>A 10-year-old, male patient with developmental disabilities and a history of multiple febrile seizures was admitted for fever and convulsion. On day 2 of the fever, he experienced six, intermittent convulsions over three hours despite antiepileptic drug administration. On admission, he had impaired consciousness and was positive for influenza virus type B. Other examinations, including brain CT, found no abnormalities. After admission, targeted temperature management (TTM) and vitamin, antibiotic, and oseltamivir therapy was begun. The patient experienced a prolonged state of impaired consciousness, prompting MRI to be performed on hospital day 6. Brain MRI findings suggested AESD and transmantle heterotopia. His consciousness status gradually improved, and he was able to perform gross motor activities and engage in simple conversation. He was discharged after valproic acid administration was begun. Two months after discharge, the patient displayed heightened impulsivity.</div></div><div><h3>Conclusion</h3><div>The present case of transmantle heterotopia was strongly suspected of being involved in the development of febrile status epilepticus and AESD. Children with underlying neurological disorders can experience AESD development even if they are older than the usually affected aged group.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100047"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142587312","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":"Coagulopathy by vitamin K deficiency: Clinical pitfall in a case with cerebral palsy under long-term enteral nutrition","authors":"Mariko Yada,&nbsp;Tomoyo Itonaga,&nbsp;Saori Oguri,&nbsp;Yuka Kimura,&nbsp;Kenji Ihara","doi":"10.1016/j.bdcasr.2024.100050","DOIUrl":"10.1016/j.bdcasr.2024.100050","url":null,"abstract":"<div><h3>Background</h3><div>Vitamin K deficiency is common in patients with neurological impairment under long-term enteral nutrition; however, reports of vitamin K deficiency in pediatric patients under long-term enteral nutrition remain limited, and critical conditions potentially leading to coagulopathy have not been sufficiently acknowledged by healthcare professionals.</div></div><div><h3>Case presentation</h3><div>We report the case of a seven-year-old girl with severe cerebral palsy who had received enteral nutrition via a nasoduodenal tube due to recurrent acute pancreatitis that had persisted for six months, and who had received an elemental diet for seven weeks prior to her presentation. After two days of cefmetazole treatment for urinary tract infection, abnormal coagulation findings, including a prolonged prothrombin time, activated partial thromboplastin time, and elevated levels of protein induced by vitamin K absence or antagonist-II, were detected. The patient's hypoprothrombinemia improved after the intravenous administration of vitamin K and switching antibiotics. From a retrospective point of view, her intake of vitamin K over the past six months was below the recommended amount for her age.</div></div><div><h3>Conclusions</h3><div>Long-term enteral nutrition is associated with an increased risk of coagulopathy due to vitamin K deficiency, which can be precipitated by prolonged use of antibacterial agents. When long-term enteral nutrition is given to patients with severe motor or intellectual disabilities, caution should be exercised when using antibiotics with NMTT side chains.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100050"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142587313","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":"Efficacy of combined treatment with a wearable cyborg hybrid assistive limb and intrathecal baclofen therapy in a pediatric patient with spastic paraplegia","authors":"Tomoyuki Masuda ,&nbsp;Ryota Nishikawa ,&nbsp;Takenori Natsume ,&nbsp;Masahisa Komatsu ,&nbsp;Motomu Maruyama ,&nbsp;Sayaka Sato ,&nbsp;Saki Otao ,&nbsp;Masaru Nasuno ,&nbsp;Shihoko Takeuchi ,&nbsp;Maki Shirai ,&nbsp;Mitsuo Motobayashi ,&nbsp;Yuka Misawa ,&nbsp;Yosuke Miyairi ,&nbsp;Yuji Inaba","doi":"10.1016/j.bdcasr.2024.100053","DOIUrl":"10.1016/j.bdcasr.2024.100053","url":null,"abstract":"<div><h3>Background</h3><div>Hybrid Assistive Limb (HAL) is a movement support robot that assists the walking function of patients with diseases causing muscle weakness in the lower limbs.</div><div>Intrathecal baclofen (ITB) therapy exerts positive effects on muscle tone in children with severe spasticity who have difficulty walking.</div><div>The present case report describes a child with spastic paraplegia who underwent intensive robotic rehabilitation with HAL and combined ITB therapy.</div></div><div><h3>Case</h3><div>A 14-year-old boy with spastic paraplegia from Pelizaeus-Merzbacher disease was undergoing treatment with oral muscle relaxants and botulinum toxin A. However, the medications were ineffective and his spasticity was progressing. A baclofen infusion pump was implanted with the catheter tip at the T10 level and ITB therapy was started. A regimen of 12.5 μg/day dose of baclofen was administered and his spasticity of limbs and trunk were attenuated. Walking practice using HAL was performed under spasticity relief by ITB therapy and gait function and patterns, excluding endurance, were improved. The attenuation of spasticity by ITB therapy made “Lying, Rolling and Sitting” easier for the patient, but may have affected “Standing”, which was supported using spasticity, and also affected the Caregiver Assistance Scale of the Mobility domain of the Pediatric Evaluation of Disability Inventory (PEDI). While, the amount of assistance required for the Activities of Daily Living (ADLs) related to self-care and the overall caregiver burden both decreased.</div></div><div><h3>Conclusion</h3><div>This is the first case report to demonstrate the efficacy and safety of combined ITB therapy and HAL rehabilitation in an ambulatory pediatric patient.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100053"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744319","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":"Opportunistic infections associated with extremely low-dose adrenocorticotropic hormone therapy: Two cases of Legionella and Pneumocystis carinii pneumonia","authors":"Azusa Ikeda ,&nbsp;Megumi Tsuji ,&nbsp;Hiroyuki Nagafuchi ,&nbsp;Yukiko Kuroda ,&nbsp;Kenji Kurosawa ,&nbsp;Tomohide Goto","doi":"10.1016/j.bdcasr.2024.100046","DOIUrl":"10.1016/j.bdcasr.2024.100046","url":null,"abstract":"<div><h3>Background</h3><div>Adrenocorticotropic hormone (ACTH) therapy, the first-line treatment for infantile spasms, is known to dose-dependently increase incidences of infectious diseases. Extremely low-dose ACTH therapy is considered safe, and there have been no reports of opportunistic or other serious infections associated with this therapy. Herein, we report two cases of <em>Legionella</em> and <em>Pneumocystis carinii</em> pneumonia associated with extremely low-dose ACTH therapy.</div></div><div><h3>Case presentation</h3><div>Patient 1 with <em>PIGA</em> variant was administered extremely low-dose ACTH therapy at 6 months, developing pneumonia 2 weeks after therapy initiation; <em>Legionella</em> pneumonia diagnosis was confirmed 14 days after onset. Although minocycline, ciprofloxacin, azithromycin, and rifampicin were administered, pneumonia progressed critically and required prolonged intensive care, resulting in chronic respiratory failure. Patient 2 with <em>KLHL20</em> variant was administered extremely low-dose ACTH therapy for 4 weeks at the age of 3 months, developing <em>Pneumocystis carinii</em> pneumonia 1 week after completion of therapy, which recovered with trimethoprim-sulfamethoxazole therapy.</div></div><div><h3>Conclusion</h3><div>Extremely low-dose and short-term ACTH therapy can be associated with opportunistic infections, and early diagnosis and treatment are crucial, because delays in administering appropriate antibiotics can lead to severe complications.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100046"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142553877","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}