Brain and Development Case Reports最新文献_第2页

Sibling cases of DEPDC5-related developmental and epileptic encephalopathy successfully treated with lacosamide 拉科沙胺成功治疗DEPDC5相关发育性癫痫脑病的同胞病例

Brain and Development Case Reports

Pub Date : 2024-10-18 DOI: 10.1016/j.bdcasr.2024.100044

Chiho Tokorodani , Ritsuo Nishiuchi , Fuyuki Miya , Katsuhiro Kobayashi , Mitsuhiro Kato

Background

DEPDC5 is a causative gene for various familial focal epilepsies. We report the cases of two Japanese sisters with DEPDC5-related epilepsy presenting as developmental and epileptic encephalopathy (DEE) that were successfully treated with lacosamide as add-on therapy.

Patients

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 DEPDC5 gene (NM_001242896: exon37: c.3751delT: p.F1251fs) in both sisters and their asymptomatic mother, illustrating the variant's incomplete penetrance.

Conclusion

The DEPDC5 variant can be causative for LGS and IESS with no malformations of cortical development. LCM may be effective for drug-resistant DEPDC5-related DEE.

背景DEPDC5是多种家族性局灶性癫痫的致病基因。我们报告了两例日本姐妹的病例，她们均患有与 DEPDC5 相关的癫痫，表现为发育性癫痫性脑病（DEE），并使用拉科酰胺作为附加疗法获得成功。长期的视频脑电图（EEG）监测显示，她还伴有非典型失神发作和不对称的全身性慢速尖波综合征，因此被诊断为伦诺克斯-加斯托特综合征（LGS）。唑尼沙胺、左乙拉西坦和丙戊酸钠（VPA）未能缓解她的癫痫发作，但随后的拉科萨胺（LCM）治疗有效地阻止了癫痫发作。4 岁 6 个月时，她的发育正常。她的妹妹在 4 个月大时曾经历过癫痫痉挛。她的发作间期脑电图显示低节律，因此被诊断为婴儿癫痫痉挛综合征（IESS）。VPA 对减少她的癫痫痉挛有部分效果，LCM 的附加疗法最终抑制了她的癫痫发作，并使她的脑电图恢复正常。一岁零两个月时，她发育正常，没有癫痫发作。两姐妹的脑部核磁共振成像结果最终变得无异常。基于三重全外显子组测序在两姐妹及其无症状的母亲体内发现了 DEPDC5 基因的杂合子种系变异（NM_001242896: exon37: c.3751delT: p.F1251fs），说明该变异具有不完全渗透性。LCM可能对耐药的DEPDC5相关DEE有效。

{"title":"Sibling cases of DEPDC5-related developmental and epileptic encephalopathy successfully treated with lacosamide","authors":"Chiho Tokorodani , Ritsuo Nishiuchi , Fuyuki Miya , Katsuhiro Kobayashi , 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":"2024-10-18","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}

引用次数: 0

A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant 一例发育性癫痫性脑病和巨幼红细胞性贫血的拉伸活化离子通道 TMEM63B 变异新病例

Brain and Development Case Reports

Pub Date : 2024-09-28 DOI: 10.1016/j.bdcasr.2024.100043

Kasumi Sasaki , Mitsuko Nakashima , Yuji Fujii , Shinji Itamura , Hirotomo Saitsu , Mitsuhiro Kato

Background

TMEM63B encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous TMEM63B variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a TMEM63B variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).

Case presentation

A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a de novo heterozygous variant of TMEM63B (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.

Discussion/Conclusion

Although most patients with TMEM63B variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the TMEM63B variant.

背景TMEM63B编码一种拉伸激活的离子通道，它介导阳离子电流以应对渗透压和机械压力。最近有报道称，在患有发育性和癫痫性脑炎以及进行性神经变性的患者中存在杂合子 TMEM63B 变异。在此，我们报告了一名患有 TMEM63B 变异的患者，她的癫痫发作通过生酮饮食（KD）疗法和培南帕尼（PER）得到了暂时控制。病例介绍一名两岁的女性幼儿表现为早发性癫痫发作、严重的全身发育迟缓、四肢瘫痪、眼球震颤、中枢性视力障碍和巨幼红细胞性贫血。脑磁共振成像显示胼胝体变薄、髓鞘化延迟以及进行性大脑和小脑萎缩。外显子组测序发现了TMEM63B的一个新发杂合变异体（NM_018426.3：c.130G >A, p.(Val44Met)），该变异体被归类为致病性变异体。讨论/结论虽然大多数TMEM63B变异体患者的癫痫发作具有耐药性，但我们的患者在服用KD和PER后癫痫发作暂时得到控制。这种联合治疗可能对治疗 TMEM63B 变体患者的癫痫发作有效。

{"title":"A new case of developmental and epileptic encephalopathy and macrocytic anemia with stretched-activated ion channel TMEM63B variant","authors":"Kasumi Sasaki , Mitsuko Nakashima , Yuji Fujii , Shinji Itamura , Hirotomo Saitsu , Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2024.100043","DOIUrl":"10.1016/j.bdcasr.2024.100043","url":null,"abstract":"<div><h3>Background</h3><div><em>TMEM63B</em> encodes a stretch-activated ion channel that mediates cation currents in response to osmotic and mechanical stresses. Heterozygous <em>TMEM63B</em> variants have recently been reported in patients with developmental and epileptic encephalopathies and progressive neurodegeneration. Here, we report a patient with a <em>TMEM63B</em> variant whose seizures were temporarily controlled using ketogenic diet (KD) therapy and perampanel (PER).</div></div><div><h3>Case presentation</h3><div>A 2-year-old female toddler showed early-onset seizures, severe global developmental delay, quadriparesis, nystagmus, central visual impairment, and macrocytic anemia. Brain magnetic resonance imaging revealed a thin corpus callosum, delayed myelination, and progressive cerebral and cerebellar atrophy. Exome sequencing identified a <em>de novo</em> heterozygous variant of <em>TMEM63B</em> (NM_018426.3: c.130G > A, p.(Val44Met)), which was classified as pathogenic.</div></div><div><h3>Discussion/Conclusion</h3><div>Although most patients with <em>TMEM63B</em> variants have drug-resistant seizures, our patient showed temporary seizure control after administering KD and PER. This combination treatment may be effective for treating seizures in patients with the <em>TMEM63B</em> variant.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100043"},"PeriodicalIF":0.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142328033","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

A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain 一名患有先天性副肌张力障碍的女性患者。第二部分：SCN4A 对大脑发育的贡献

Brain and Development Case Reports

Pub Date : 2024-09-28 DOI: 10.1016/j.bdcasr.2024.100042

Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata

Background

SCN4A encodes the α-subunit of the voltage-gated sodium channel Na_V1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of SCN4A. SCN4A has been considered to be exclusively expressed in muscles, and the brain phenotype has not been reported until recently, including descriptions of essential tremor and epilepsy.

Patient

The patient is a 20-year-old woman with PMC by detecting a c.3917G>A, p.(Gly1306Glu) variant in SCN4A. The patient also showed neurological symptoms, such as epilepsy, from 1 year old and intellectual disability (intelligence quotient 48).

Mouse brain

We confirmed the Na_V 1.4 expression in the brain of developing mice, 10 days after birth, immunohistochemically, in the entire cerebral cortex, the olfactory bulb and the midbrain but not in the hippocampus or cerebellum. However, the Na_V 1.4 expression was not detected in adult mouse cortex.

Discussion

Na_V1.4 was shown to be expressed in the cerebral cortex of young mice but not in adults. Since our patient had shown intellectual disability and epilepsy from infancy, Na_V1.4 was considered to be involved in the developing brain and cause central nervous system symptom in some situations.

背景SCN4A编码电压门控钠通道NaV1.4的α亚基，它负责产生动作电位和兴奋骨骼肌纤维。先天性副肌张力障碍（PMC）是一种先天性疾病，其特征是由于 SCN4A 的变异而导致的非萎缩性肌张力障碍。一直以来，SCN4A 被认为只在肌肉中表达，而大脑表型直到最近才有报道，包括对本质性震颤和癫痫的描述。患者是一名 20 岁女性，通过检测 SCN4A 中的 c.3917G>A，p.(Gly1306Glu) 变体，发现患有先天性副肌张力障碍。小鼠大脑我们用免疫组化方法证实了出生后 10 天的发育中小鼠大脑中 NaV 1.4 的表达，在整个大脑皮层、嗅球和中脑中均有表达，但在海马和小脑中没有表达。讨论NaV1.4在幼鼠大脑皮层有表达，但在成年小鼠中没有表达。由于我们的患者在婴儿期就表现出智力障碍和癫痫，因此认为 NaV1.4 参与了大脑的发育，并在某些情况下导致中枢神经系统症状。

{"title":"A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain","authors":"Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata","doi":"10.1016/j.bdcasr.2024.100042","DOIUrl":"10.1016/j.bdcasr.2024.100042","url":null,"abstract":"<div><h3>Background</h3><div><em>SCN4A</em> encodes the α-subunit of the voltage-gated sodium channel Na<sub>V</sub>1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of <em>SCN4A</em>. <em>SCN4A</em> has been considered to be exclusively expressed in muscles, and the brain phenotype has not been reported until recently, including descriptions of essential tremor and epilepsy.</div></div><div><h3>Patient</h3><div>The patient is a 20-year-old woman with PMC by detecting a c.3917G>A, p.(Gly1306Glu) variant in <em>SCN4A</em>. The patient also showed neurological symptoms, such as epilepsy, from 1 year old and intellectual disability (intelligence quotient 48).</div></div><div><h3>Mouse brain</h3><div>We confirmed the Na<sub>V</sub> 1.4 expression in the brain of developing mice, 10 days after birth, immunohistochemically, in the entire cerebral cortex, the olfactory bulb and the midbrain but not in the hippocampus or cerebellum. However, the Na<sub>V</sub> 1.4 expression was not detected in adult mouse cortex.</div></div><div><h3>Discussion</h3><div>Na<sub>V</sub>1.4 was shown to be expressed in the cerebral cortex of young mice but not in adults. Since our patient had shown intellectual disability and epilepsy from infancy, Na<sub>V</sub>1.4 was considered to be involved in the developing brain and cause central nervous system symptom in some situations.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100042"},"PeriodicalIF":0.0,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357595","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

Hemorrhagic shock and encephalopathy syndrome occurring in the setting of dual pathogenesis of cerebral cavernous malformation 1 and Houge-Janssens syndrome 2 脑海绵畸形1和侯格-扬森综合征2双重发病机制下的出血性休克和脑病综合征

Brain and Development Case Reports

Pub Date : 2024-09-23 DOI: 10.1016/j.bdcasr.2024.100038

Haruna Yoshikawa , Kenichiro Hayashi , Mamiko Yamada , Fuyuki Miya , Kenjiro Kosaki , Toshiki Takenouchi

Background

Hemorrhagic shock and encephalopathy syndrome is a lethal form of acute childhood encephalopathy that occurs in the setting of various neurodevelopmental conditions. In undiagnosed patients, exome sequencing identifies dual genetic diagnoses in 5% of affected individuals.

Clinical Report

A male infant with a family history of cavernous malformation syndrome with profound developmental delay and hypotonia was brought to our clinic. A trio-based exome analysis identified dual genetic diagnoses: cerebral cavernous malformation 1 (OMIM#116860) due to a maternally inherited heterozygous frameshift mutation in KRIT1 and Houge-Janssens syndrome 2 (OMIM#616362) due to a de novo heterozygous mutation in PPP2R1A. At the age of two years, the child developed hemorrhagic shock and encephalopathy syndrome and died.

Discussion

The dual genetic diagnoses well explained the patient's overall clinical and neuroradiographic phenotype. The differential risk of recurrence of two independent disorders was informative from a genetic counseling standpoint. Known underlying neurological comorbidities in cases developing hemorrhagic shock and encephalopathy syndrome do not appear to have a shared molecular mechanism, but perhaps have perturbations in the basal neuronal activity, predisposing to acute lethal encephalopathy.

Conclusion

A thorough genetic investigation to search for multiple genetic causes to fully explain a patient's overall phenotype is critical. Multiplicity of the underlying genetic conditions may increase the risk of development of acute childhood encephalopathy.

背景失血性休克和脑病综合征是一种致命的儿童急性脑病，可在各种神经发育疾病的背景下发生。在未确诊的患者中，5% 的患者通过外显子组测序确定了双重基因诊断。临床报告一名男婴被送到我们诊所就诊，他有海绵畸形综合征家族史，伴有严重的发育迟缓和肌张力低下。基于三组外显子组的分析确定了双重基因诊断：因 KRIT1 基因的母系遗传性杂合框移位突变导致的脑海绵状畸形 1（OMIM#116860）和因 PPP2R1A 基因的新生杂合突变导致的 Houge-Janssens 综合征 2（OMIM#616362）。讨论双重基因诊断很好地解释了患者的整体临床和神经放射表型。从遗传咨询的角度来看，两种独立疾病复发风险的不同具有参考价值。在发生失血性休克和脑病综合征的病例中，已知的潜在神经系统合并症似乎没有共同的分子机制，但可能存在基底神经元活动紊乱，容易导致急性致死性脑病。多重潜在遗传病可能会增加儿童急性脑病的发病风险。

{"title":"Hemorrhagic shock and encephalopathy syndrome occurring in the setting of dual pathogenesis of cerebral cavernous malformation 1 and Houge-Janssens syndrome 2","authors":"Haruna Yoshikawa , Kenichiro Hayashi , Mamiko Yamada , Fuyuki Miya , Kenjiro Kosaki , Toshiki Takenouchi","doi":"10.1016/j.bdcasr.2024.100038","DOIUrl":"10.1016/j.bdcasr.2024.100038","url":null,"abstract":"<div><h3>Background</h3><div>Hemorrhagic shock and encephalopathy syndrome is a lethal form of acute childhood encephalopathy that occurs in the setting of various neurodevelopmental conditions. In undiagnosed patients, exome sequencing identifies dual genetic diagnoses in 5% of affected individuals.</div></div><div><h3>Clinical Report</h3><div>A male infant with a family history of cavernous malformation syndrome with profound developmental delay and hypotonia was brought to our clinic. A trio-based exome analysis identified dual genetic diagnoses: cerebral cavernous malformation 1 (OMIM#<span><span>116860</span><svg><path></path></svg></span>) due to a maternally inherited heterozygous frameshift mutation in <em>KRIT1</em> and Houge-Janssens syndrome 2 (OMIM#<span><span>616362</span><svg><path></path></svg></span>) due to a de novo heterozygous mutation in <em>PPP2R1A</em>. At the age of two years, the child developed hemorrhagic shock and encephalopathy syndrome and died.</div></div><div><h3>Discussion</h3><div>The dual genetic diagnoses well explained the patient's overall clinical and neuroradiographic phenotype. The differential risk of recurrence of two independent disorders was informative from a genetic counseling standpoint. Known underlying neurological comorbidities in cases developing hemorrhagic shock and encephalopathy syndrome do not appear to have a shared molecular mechanism, but perhaps have perturbations in the basal neuronal activity, predisposing to acute lethal encephalopathy.</div></div><div><h3>Conclusion</h3><div>A thorough genetic investigation to search for multiple genetic causes to fully explain a patient's overall phenotype is critical. Multiplicity of the underlying genetic conditions may increase the risk of development of acute childhood encephalopathy.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100038"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000345/pdfft?md5=d203e515451163ff7a3d57c63a15abf3&pid=1-s2.0-S2950221724000345-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142311042","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

A female patient with paramyotonia congenita. Part 1: Combination therapy of lacosamide and topiramate 一名患有先天性副肌张力障碍的女性患者。第一部分：拉科萨胺和托吡酯的联合疗法

Brain and Development Case Reports

Pub Date : 2024-09-23 DOI: 10.1016/j.bdcasr.2024.100041

Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata

Background

Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of SCN4A. SCN4A encodes the α-subunit of the voltage-gated sodium channel Na_V1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Despite some reduction of myotonia by sodium channel blockers, a more effective treatment is still being sought. We herein report a patient whose myotonia was ameliorated by combination therapy with topiramate, mexiletine and lacosamide.

Patient

The patient was a 20-year-old woman. A few days after birth, laryngospasm and cyanosis had appeared repeatedly on crying, gradually followed by local myotonia in various parts of the body. Exposure to both hot and cold, exercise, and mental stress induced myotonia in her fingers, orbicularis oculi, neck, trunk, and limbs, lasting for several minutes to hours, several times a day. We diagnosed her with PMC by detecting a c.3917G > A, p.(Gly1306Glu) variant in SCN4A. She also had epilepsy with tonic-clonic seizure since 1 year old. Combination therapy of topiramate and lacosamide in addition to mexiletine reduced the myotonia markedly.

Discussion

A sodium channel blocker, the combination of fast inactivation by topiramate and mexiletine, and slow inactivation by lacosamide may be effective in reducing myotonia in PMC. The further accumulation of data concerning this treatment is required.

背景先天性肌张力障碍（Paramyotonia congenita，PMC）是一种先天性疾病，其特征是由于 SCN4A 的变异而导致的非萎缩性肌张力障碍。SCN4A编码电压门控钠通道NaV1.4的α亚基，负责产生动作电位和兴奋骨骼肌纤维。尽管钠通道阻滞剂可减轻肌张力，但人们仍在寻找更有效的治疗方法。我们在此报告了一名患者，她的肌张力症在托吡酯、甲昔列汀和拉科沙胺的联合治疗下得到了改善。出生几天后，反复哭闹时出现喉痉挛和发绀，随后逐渐出现身体各部位的局部肌张力障碍。暴露于冷热环境、运动和精神压力会诱发她的手指、眼轮匝肌、颈部、躯干和四肢出现肌张力障碍，持续数分钟至数小时，每天数次。通过检测 SCN4A 中的 c.3917G > A, p.(Gly1306Glu) 变异，我们诊断她患有 PMC。她从一岁起就患有强直阵挛性癫痫。讨论钠通道阻滞剂、托吡酯和甲昔列汀的快速灭活与拉科萨胺的慢速灭活相结合，可能会有效减轻 PMC 患者的肌张力障碍。有关这种治疗方法的数据还需要进一步积累。

{"title":"A female patient with paramyotonia congenita. Part 1: Combination therapy of lacosamide and topiramate","authors":"Yoshie Kurokawa , Karin Kojima , Tomoyuki Ishii , Eriko Jimbo , Hirokazu Yamagishi , Akihiko Miyauchi , Hiroko Wakabayashi , Kazuhiro Muramatsu , Hitoshi Osaka , Takanori Yamagata","doi":"10.1016/j.bdcasr.2024.100041","DOIUrl":"10.1016/j.bdcasr.2024.100041","url":null,"abstract":"<div><h3>Background</h3><div>Paramyotonia congenita (PMC) is a congenital disorder characterized by non-dystrophic myotonia due to variants of <em>SCN4A</em>. <em>SCN4A</em> encodes the α-subunit of the voltage-gated sodium channel Na<sub>V</sub>1.4, which is responsible for the generation of action potentials and excitation of skeletal muscle fibers. Despite some reduction of myotonia by sodium channel blockers, a more effective treatment is still being sought. We herein report a patient whose myotonia was ameliorated by combination therapy with topiramate, mexiletine and lacosamide.</div></div><div><h3>Patient</h3><div>The patient was a 20-year-old woman. A few days after birth, laryngospasm and cyanosis had appeared repeatedly on crying, gradually followed by local myotonia in various parts of the body. Exposure to both hot and cold, exercise, and mental stress induced myotonia in her fingers, orbicularis oculi, neck, trunk, and limbs, lasting for several minutes to hours, several times a day. We diagnosed her with PMC by detecting a c.3917G > A, p.(Gly1306Glu) variant in <em>SCN4A.</em> She also had epilepsy with tonic-clonic seizure since 1 year old. Combination therapy of topiramate and lacosamide in addition to mexiletine reduced the myotonia markedly.</div></div><div><h3>Discussion</h3><div>A sodium channel blocker, the combination of fast inactivation by topiramate and mexiletine, and slow inactivation by lacosamide may be effective in reducing myotonia in PMC. The further accumulation of data concerning this treatment is required.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100041"},"PeriodicalIF":0.0,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000370/pdfft?md5=7158e566f41a2f8e280c0cce0c476595&pid=1-s2.0-S2950221724000370-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142311043","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

Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome 一名利氏综合征患者的脑部顺序磁共振成像显示出广泛的变化和后可逆性脑病综合征的发展

Brain and Development Case Reports

Pub Date : 2024-09-13 DOI: 10.1016/j.bdcasr.2024.100040

Tatsuya Fukasawa , Tetsuo Kubota , Toshiki Takeo , Takeshi Suzuki , Hiroyuki Kidokoro , Tamiko Negoro , Kei Murayama , Akira Ohtake , Jun Natsume

Background: The majority of Leigh syndrome cases exhibit fulminant clinical courses, and magnetic resonance imaging (MRI) typically reveals evolutionary changes. We present a case of Leigh syndrome in which MRI of the brain revealed extensive changes along with the development of posterior reversible encephalopathy syndrome (PRES).

Patient: An 8-year-old Japanese girl presented with gait disturbance. MRI revealed high-intensity areas in the bilateral basal ganglia and the ventral midbrain in T2-weighted images (T2WIs) and fluid attenuated inversion recovery (FLAIR). We identified the mitochondrial DNA homozygous mutation 9176 T > C. The patient gradually recovered. One month after symptom onset, she developed respiratory and circulatory failure accompanied by lactic acidosis and disturbances of consciousness. A repeat MRI did not reveal any new lesions. Subsequently, 1 month later, she presented with disturbances of consciousness, headache, and vision disturbances. Her blood pressure was 210/140 mmHg; MRI revealed many spotty high-intensity areas, predominantly located in the parietal and occipital lobes in T2WIs and FLAIR. She was treated with hypotensive drugs and gradually recovered with improved MRI findings. This episode was diagnosed as PRES.

Conclusion: This case revealed extensive changes in MRI findings of the brain, as well as disturbances of consciousness due to respiratory and circulatory failure and PRES. Sequential brain MRI is useful for the evaluation of patients with Leigh syndrome and for the detection of unexpected complications, such as PRES.

背景：大多数Leigh综合征病例表现出暴发性临床病程，磁共振成像（MRI）通常显示出演变性变化。我们报告了一例莱氏综合征病例，该病例的脑部核磁共振成像显示出广泛的变化，并伴有后可逆性脑病综合征（PRES）的发展：一名 8 岁的日本女孩出现步态障碍。核磁共振成像显示，在 T2 加权成像（T2WI）和液体衰减反转恢复（FLAIR）中，双侧基底节和腹侧中脑有高强度区域。我们确定了线粒体 DNA 同源突变 9176 T > C。症状出现一个月后，她出现呼吸和循环衰竭，并伴有乳酸酸中毒和意识障碍。重复磁共振成像检查未发现任何新的病变。一个月后，她又出现意识障碍、头痛和视力障碍。她的血压为 210/140 mmHg；核磁共振成像显示许多斑点状高强度区域，主要位于顶叶和枕叶的 T2WIs 和 FLAIR。她接受了降压药物治疗，并逐渐康复，磁共振成像结果也有所改善。此次发病被诊断为 PRES：本病例显示了脑部磁共振成像结果的广泛变化，以及因呼吸和循环衰竭和 PRES 引起的意识障碍。序贯脑磁共振成像有助于评估莱氏综合征患者，也有助于发现意想不到的并发症，如 PRES。

{"title":"Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome","authors":"Tatsuya Fukasawa , Tetsuo Kubota , Toshiki Takeo , Takeshi Suzuki , Hiroyuki Kidokoro , Tamiko Negoro , Kei Murayama , Akira Ohtake , Jun Natsume","doi":"10.1016/j.bdcasr.2024.100040","DOIUrl":"10.1016/j.bdcasr.2024.100040","url":null,"abstract":"<div><p>Background: The majority of Leigh syndrome cases exhibit fulminant clinical courses, and magnetic resonance imaging (MRI) typically reveals evolutionary changes. We present a case of Leigh syndrome in which MRI of the brain revealed extensive changes along with the development of posterior reversible encephalopathy syndrome (PRES).</p><p>Patient: An 8-year-old Japanese girl presented with gait disturbance. MRI revealed high-intensity areas in the bilateral basal ganglia and the ventral midbrain in T2-weighted images (T2WIs) and fluid attenuated inversion recovery (FLAIR). We identified the mitochondrial DNA homozygous mutation 9176 T > C. The patient gradually recovered. One month after symptom onset, she developed respiratory and circulatory failure accompanied by lactic acidosis and disturbances of consciousness. A repeat MRI did not reveal any new lesions. Subsequently, 1 month later, she presented with disturbances of consciousness, headache, and vision disturbances. Her blood pressure was 210/140 mmHg; MRI revealed many spotty high-intensity areas, predominantly located in the parietal and occipital lobes in T2WIs and FLAIR. She was treated with hypotensive drugs and gradually recovered with improved MRI findings. This episode was diagnosed as PRES.</p><p>Conclusion: This case revealed extensive changes in MRI findings of the brain, as well as disturbances of consciousness due to respiratory and circulatory failure and PRES. Sequential brain MRI is useful for the evaluation of patients with Leigh syndrome and for the detection of unexpected complications, such as PRES.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100040"},"PeriodicalIF":0.0,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000369/pdfft?md5=a91eabdb445cbf7572b141218d7d13d7&pid=1-s2.0-S2950221724000369-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142229385","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

Frequent breath-hold while awakening in SATB1 missense variant: A case report SATB1 错义变异体在觉醒时经常憋气：病例报告

Brain and Development Case Reports

Pub Date : 2024-09-12 DOI: 10.1016/j.bdcasr.2024.100036

Yu Aihara , Takashi Saito , Yuta Suenaga , Kaori Miyana , Toshiyuki Itai , Satoko Miyatake , Kaoru Yamamoto , Noriko Sumitomo , Shimpei Baba , Eri Takeshita , Yuko Shimizu-Motohashi , Yuji Takahashi , Hidehiro Mizusawa , Naomichi Matsumoto , Masayuki Sasaki

Introduction: SATB1 encodes a protein of the same name, and its genetic alteration causes SATB1 (special AT-rich sequence-binding protein 1) dysfunction, which clinically presents as developmental delay, intellectual disability, facial features, and epilepsy. However, detailed clinical information, especially regarding respiratory disorders, has not yet been fully described.

Case Presentation: We report the case of a 3-year-old Japanese girl with a de novo variant of SATB1, c.1588G > A:p.(Glu530Lys), who presented with a frequent breath-holding and hyperventilation while awake, in addition to typical phenotype. The long-term EEG showed no corresponding epileptiform changes, and breath-holding was considered non-epileptic rather than epilepsy, such as ictal central apneas. Valproic acid and acetazolamide alleviated breath-holding; however, it was intractable.

Conclusion: Respiratory disorders were thought to be non-epileptic, not reported in SATB1 disorders, and were resistant to treatment. The case was considered critical and may provide new research clues to this severe and not yet fully understood phenomenon.

简介SATB1编码一种同名蛋白质，其基因改变会导致SATB1（特殊富AT序列结合蛋白1）功能障碍，临床表现为发育迟缓、智力障碍、面部特征和癫痫。然而，详细的临床信息，尤其是有关呼吸系统疾病的信息，尚未得到充分描述：我们报告了一例患有 SATB1 基因新变异（c.1588G >A:p.(Glu530Lys)）的 3 岁日本女童的病例。长期脑电图检查未发现相应的癫痫样改变，憋气被认为是非癫痫性的，而不是癫痫，如发作性中枢性呼吸暂停。丙戊酸和乙酰唑胺缓解了憋气，但憋气仍很顽固：呼吸紊乱被认为是非癫痫性的，在 SATB1 疾病中未见报道，而且对治疗有抵抗力。该病例被认为是危重病例，可能会为这一尚未完全理解的严重现象提供新的研究线索。

{"title":"Frequent breath-hold while awakening in SATB1 missense variant: A case report","authors":"Yu Aihara , Takashi Saito , Yuta Suenaga , Kaori Miyana , Toshiyuki Itai , Satoko Miyatake , Kaoru Yamamoto , Noriko Sumitomo , Shimpei Baba , Eri Takeshita , Yuko Shimizu-Motohashi , Yuji Takahashi , Hidehiro Mizusawa , Naomichi Matsumoto , Masayuki Sasaki","doi":"10.1016/j.bdcasr.2024.100036","DOIUrl":"10.1016/j.bdcasr.2024.100036","url":null,"abstract":"<div><p><em>Introduction: SATB1</em> encodes a protein of the same name, and its genetic alteration causes SATB1 (special AT-rich sequence-binding protein 1) dysfunction, which clinically presents as developmental delay, intellectual disability, facial features, and epilepsy. However, detailed clinical information, especially regarding respiratory disorders, has not yet been fully described.</p><p><em>Case Presentation:</em> We report the case of a 3-year-old Japanese girl with a <em>de novo</em> variant of <em>SATB1</em>, c.1588G > A:p.(Glu530Lys), who presented with a frequent breath-holding and hyperventilation while awake, in addition to typical phenotype. The long-term EEG showed no corresponding epileptiform changes, and breath-holding was considered non-epileptic rather than epilepsy, such as ictal central apneas. Valproic acid and acetazolamide alleviated breath-holding; however, it was intractable.</p><p><em>Conclusion:</em> Respiratory disorders were thought to be non-epileptic, not reported in <em>SATB1</em> disorders, and were resistant to treatment. The case was considered critical and may provide new research clues to this severe and not yet fully understood phenomenon.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"2 4","pages":"Article 100036"},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000321/pdfft?md5=7b06a36254beacba17e0007f42f80e1b&pid=1-s2.0-S2950221724000321-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142172882","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

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 一名中国脊髓性肌萎缩症3型患者脑室腹腔分流术后的鞘内奴西那生治疗：病例报告和文献综述

Brain and Development Case Reports

Pub Date : 2024-09-12 DOI: 10.1016/j.bdcasr.2024.100039

Kai Ma , Yi Lu , Dong Wang , Xiao Han , Lei Liang , Yuanyuan Zhang

Background

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.

Case report

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.

Conclusion

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.

背景5q脊髓性肌萎缩症（5q spinal muscular atrophy，SMA）患者接受鞘内注射奴西能森（intraterhecal nusinersen）治疗有继发交流性脑积水的风险。病例报告一名女性患者在 6 个月时因头围逐渐增大而被诊断为脑积水，并在 7 个月时接受了脑室腹腔分流术（VPS）治疗。运动功能发育迟缓，41 个月时被诊断为 SMA 3 型。患者 51 个月大时开始接受鞘内努西能松治疗。随访 28 个月后，运动功能评分量表结果显示病情明显好转，头部 CT 扫描显示脑积水有所缓解。结论SMA 3 型患者接受 VPS 手术后，鞘内注射奴西那生治疗有效且安全。脑积水并非 SMA 患者鞘内努西那生治疗的禁忌症。

{"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 , Yi Lu , Dong Wang , Xiao Han , Lei Liang , 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":"2024-09-12","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}

引用次数: 0

Pediatric Opsoclonus myoclonus syndrome with improvement of symptoms and decrease in cerebrospinal fluid B cell percentage after Rituxmab administration: Case report 使用利妥昔单抗后症状改善、脑脊液 B 细胞比例下降的小儿 Opsoclonus 肌阵挛综合征：病例报告

Brain and Development Case Reports

Pub Date : 2024-09-10 DOI: 10.1016/j.bdcasr.2024.100037

Eri Inoue , Sae Nishisho , Noriko Fuke , Takayuki Wakabayashi , Yukihiko Konishi , Takashi Kusaka

Introduction

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.

Case report

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.

Conclusion

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.

导言：肌阵挛综合征（OMS）是一种罕见的神经系统疾病，表现为肌阵挛、共济失调或肌阵挛、行为改变或睡眠障碍。认知和行为障碍是 OMS 儿童患者最常见的后遗症。OMS患者的脑脊液（CSF）B细胞计数常常升高，这被认为是疾病活动的生物标志物，可能是选择最佳治疗方法的重要指标。病例报告：一名1岁5个月大的男孩被诊断为副肿瘤性OMS，发病3个月后开始接受免疫疗法，静脉注射免疫球蛋白和地塞米松（DEX）脉冲疗法。一个疗程的DEX脉冲治疗后，由于症状恶化，他又开始接受利妥昔单抗（RTX）治疗，结果OMS评分量表得分达到13分。开始接受 RTX 治疗两周后，患者的症状开始好转，5 个月后可以行走。在接受 RTX 治疗前，脑脊液中 B 细胞的比例为 10.7%，但在开始 RTX 治疗 3 个月后，这一比例降至 0.16%。患者在发病 12 个月后病情得到缓解，并且没有复发。如果能更早使用 RTX，病情本可以更快缓解。应积极对 OMS 患者进行 CSF 淋巴细胞亚群分析，因为它是 RTX 导入的潜在指标。

{"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 , Sae Nishisho , Noriko Fuke , Takayuki Wakabayashi , Yukihiko Konishi , 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":"2024-09-10","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}

引用次数: 0

Cranial polyneuropathy secondary to retropharyngeal abscess in an adolescent: Multidisciplinary management and clinical resolution 一名青少年继发于咽后脓肿的头颅多发性神经病：多学科管理和临床解决方案

Brain and Development Case Reports

Pub Date : 2024-09-10 DOI: 10.1016/j.bdcasr.2024.100035

Timothy Mathieson , Alexandre Piletta-Zanin , Serge Daniel Le Bon , Basile Nicolas Landis , Hélène Cao Van , Christian Korff

Introduction

Cranial nerve deficits are a rare but described complication of infection in the deep spaces of the neck and their optimal management remains unclear.

Case report

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.

Conclusion

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.

导言颅神经缺损是一种罕见的颈部深间隙感染并发症，但其最佳治疗方法仍不明确。病例报告我们介绍了一名 15 岁男性患者的病例和临床症状，该患者在咽后脓肿的情况下出现多发性颅神经缺损。结论我们认为，本病例强调了与颈深间隙感染相关的颅多发性神经病应采取综合治疗方法，如果最大限度的药物治疗无效，应特别考虑手术减压。

引用次数: 0