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Brain and Development Case Reports

Pub Date : 2024-08-13 DOI: 10.1016/j.bdcasr.2024.100034

Kazuo Kubota , Takuya Hiraide , Mina Nakama , Miho Adachi , Mitsuko Nakashima , Hirotomo Saitsu , Hidenori Ohnishi

Background

Although GRIN2A-related disorders are associated with childhood epilepsy with centrotemporal spikes, Landau-Kleffner syndrome, continuous spike and wave during slow wave sleep, atypical rolandic epilepsy, and speech impairment, the clinical spectrum of these disorders is broad. We report a patient with GRIN2A-related disorder with profound developmental delay and predominantly involuntary movement.

Case presentation

The patient had been vomiting frequently because of gastric volvulus. He exhibited daily paroxysmal involuntary movements and abnormal eye movements from 2 months of age. The abnormal eye movements were often asymmetrical and resembled oculogyric crisis. To rule out inherited monoamine neurotransmitter disorders, neurotransmitter levels in the cerebrospinal fluid were measured, which showed approximately normal results. Currently, the patient suffers from profound psychomotor developmental delay, is nonverbal and non-ambulatory, lacks independent head control, and is bedridden. Whole exome sequencing revealed a de novo heterozygous missense variant (NM_001134407.3:c.1904C > T, p.(Ala635Val)) in the GRIN2A gene.

Conclusion

A missense variant of GRIN2A caused profound developmental delay and a disorder predominantly affecting movement. The patient's phenotype was very severe and was similar to that of an inherited monoamine neurotransmitter disorder. GRIN2A-related disorders should be considered in patients with suspected inherited monoamine neurotransmitter disorders.

背景虽然GRIN2A相关疾病与儿童癫痫伴心颞区棘波、Landau-Kleffner综合征、慢波睡眠中的连续棘波和波形、非典型罗兰性癫痫和语言障碍有关，但这些疾病的临床表现范围很广。我们报告了一名患有 GRIN2A 相关疾病的患者，该患者发育严重迟缓，主要表现为不自主运动。患者从 2 个月大开始就表现出每日阵发性不自主运动和异常眼球运动。异常眼球运动通常不对称，类似眼球运动危象。为了排除遗传性单胺类神经递质紊乱的可能性，对脑脊液中的神经递质水平进行了测量，结果显示大致正常。目前，患者患有严重的精神运动发育迟缓，不会说话，不能行走，缺乏独立的头部控制能力，并且卧床不起。全外显子组测序发现，GRIN2A基因存在一个新发杂合错义变异（NM_001134407.3:c.1904C >T,p.(Ala635Val)）。该患者的表型非常严重，与遗传性单胺类神经递质紊乱相似。对于怀疑患有遗传性单胺类神经递质紊乱的患者，应考虑与GRIN2A相关的疾病。

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引用次数: 0

A case of autism successfully treated with very-low-dose levodopa for early-onset antipsychotic-induced tardive movement disorder manifested by dropped head syndrome 用极低剂量左旋多巴治疗早发抗精神病药物诱发的迟发性运动障碍（表现为垂头综合征），成功治愈一例自闭症患者

Brain and Development Case Reports

Pub Date : 2024-07-23 DOI: 10.1016/j.bdcasr.2024.100030

Keiho Owada , Shuhei Ide , Akiko Shibata , Masakazu Mimaki

Background

Atypical antipsychotics, often used to manage aggressiveness and mood instability associated with autism spectrum disorder (ASD), can cause severe side effects, such as tardive dystonia (TD), an often irreversible tardive movement disorder subtype. Dropped head syndrome (DHS), a rare manifestation of extrapyramidal disorders, may also represent a rare form of neck TD.

Case Presentation

A 15-year-old man with severe autism and intellectual disability was prescribed risperidone (1 mg/day) to manage impulsive and aggressive behaviors. After 2 months of treatment, the patient started showing DHS symptoms, diminished activity, and lack of facial expressions. Based on the observed fluctuation of dystonic symptoms, very-low-dose levodopa therapy (VLDT; 0.5–1 mg/kg/day) was started due to the persistence of symptoms 2 months after discontinuing risperidone. Remarkably, the patient showed improved facial expression, activity levels, and neck control within 2 days. After 7 months of treatment, the patient maintained complete improvement in overall symptoms.

Discussion and Conclusion

This case presented an atypical manifestation of DHS, with early-onset TD even after short-term exposure to low-dose atypical antipsychotics, indicating susceptibility of the dopaminergic system. Thus, clinicians should be cautious in the administration of atypical antipsychotics for ASD and vigilant in monitoring TD development. Furthermore, the fluctuation in dystonic symptoms and rapid response to VLDT indicate similarities to dopa-responsive dystonia, highlighting a potential therapeutic avenue for refractory conditions in similar clinical scenarios.

背景非典型抗精神病药物通常用于控制与自闭症谱系障碍（ASD）相关的攻击性和情绪不稳定性，但也可能导致严重的副作用，如迟发性肌张力障碍（TD），这是一种通常不可逆的迟发性运动障碍亚型。垂头综合征（DHS）是锥体外系障碍的一种罕见表现，也可能是颈部肌张力障碍的一种罕见形式。病例介绍一名患有严重自闭症和智力障碍的 15 岁男子接受了利培酮（1 毫克/天）治疗，以控制冲动和攻击行为。治疗 2 个月后，患者开始出现 DHS 症状、活动减少和缺乏面部表情。根据观察到的肌张力障碍症状波动，由于停用利培酮 2 个月后症状仍然存在，患者开始接受超低剂量左旋多巴治疗（VLDT；0.5-1 毫克/千克/天）。值得注意的是，患者的面部表情、活动水平和颈部控制能力在两天内均有所改善。讨论和结论：本病例是 DHS 的一种非典型表现，即使短期使用低剂量非典型抗精神病药物，也会出现早发性 TD，这表明多巴胺能系统易受影响。因此，临床医生在使用非典型抗精神病药物治疗 ASD 时应谨慎，并警惕 TD 的发展。此外，肌张力障碍症状的波动性和对VLDT的快速反应表明，该病与多巴反应性肌张力障碍有相似之处，这为类似临床情况下的难治性疾病提供了潜在的治疗途径。

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引用次数: 0

Case Report: Successful complete open corpus callosotomy for refractory epilepsy in Rett syndrome 病例报告：成功实施完全开放式胼胝体切开术治疗雷特综合征难治性癫痫

Brain and Development Case Reports

Pub Date : 2024-07-23 DOI: 10.1016/j.bdcasr.2024.100032

Anita N. Datta , Mandeep Tamber

Background

Rett syndrome (RTT) is a neurodevelopmental disorder that occurs primarily in females and is characterized by rapid regression of acquired skills, including language and purposeful hand movements. Epilepsy affects 50–90 % of RTT patients, with approximately a third of patients having drug resistant epilepsy. Any seizure type can occur in individuals with RTT.

Case presentation

We present here a unique case of a 13-year-old girl with RTT and drug-resistant epileptic spasms and tonic seizures who underwent a complete open corpus callosotomy (CC) to reduce seizure burden. After surgery, she had a significant reduction in seizures, seizure-related hospitalizations, and use of seizure rescue medication, resulting in improved quality of life. Post-operatively, she experienced parkinsonism symptoms, that fully resolved, and may be related to a transient disconnection syndrome.

Discussion/Conclusion

For patients with Rett syndrome with drug-resistant seizures with rapid bi-hemispheric spread, a complete CC can be considered as a treatment option to reduce seizure burden. At present, CC in RTT is not well documented in the literature.

背景雷特综合征（RTT）是一种主要发生在女性身上的神经发育障碍，其特点是后天技能迅速退化，包括语言和有目的的手部动作。50%-90%的 RTT 患者患有癫痫，其中约三分之一的患者患有耐药性癫痫。我们在此介绍一例独特的病例：一名 13 岁女孩患有 RTT 并伴有耐药性癫痫痉挛和强直性发作，她接受了完全开放性胼胝体切开术（CC）以减轻发作负担。术后，她的癫痫发作、与癫痫发作相关的住院治疗和癫痫发作抢救药物的使用显著减少，生活质量得到改善。术后，她出现了帕金森症状，但已完全缓解，可能与一过性连接断开综合征有关。讨论/结论对于有耐药性癫痫发作且双大脑半球迅速扩散的 Rett 综合征患者，可以考虑将完全 CC 作为减轻癫痫发作负担的治疗方案。目前，文献中对RTT患者进行CC治疗的记载并不多。

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引用次数: 0

AESD due to COVID-19 with shifting seizure focus laterality between early and late seizure, accompanied by characteristic blood flow signal changes on MRI 由 COVID-19 引起的 AESD，发作早期和晚期发作病灶偏侧，伴有磁共振成像上特征性的血流信号变化

Brain and Development Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.bdcasr.2024.100029

Kei Morota , Ryo Sugitate , Natsuki Yagi , Atsushi Matsui , Tomomi Ogata , Kazuhiro Muramatsu

Background

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) commonly presents with febrile seizure overlap and clusters of seizures several days later; however, information on the localization of seizure foci is scarce.

Case presentation

We present the case of a 6-year-old child who initially presented with seizures of the right upper and lower extremities as early seizures, but later, the focus of her seizure clusters shifted to the left upper extremity as late seizures. Arterial spin labeling (ASL) findings in the right cerebral hemisphere changed accordingly, but blood flow in the left frontal lobe was consistently enhanced, suggesting the presence of additional pathology.

Conclusion

This case expands our understanding of evolving seizure patterns in AESD and highlights the potential of ASL to elucidate its complex pathophysiology.

背景急性脑病伴双相癫痫发作和晚期弥散功能减退（AESD）通常表现为发热性癫痫发作重叠和数天后的癫痫发作集群；然而，有关癫痫发作灶定位的信息却很少。右侧大脑半球的动脉自旋标记（ASL）结果也发生了相应的变化，但左侧额叶的血流持续增强，提示存在其他病变。

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引用次数: 0

SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia 患有双侧多畸形和厣肌发育不良的婴儿的 SCN2A 发育和癫痫性脑病

Brain and Development Case Reports

Pub Date : 2024-06-26 DOI: 10.1016/j.bdcasr.2024.100028

Joana Sa de Almeida , Joel Fluss , Méryle Laurent , Lina Quteineh , Christian Korff , Stéphanie Garcia-Tarodo

Introduction

SCN2A mutations have been associated with a wide phenotypic spectrum that includes, among others, developmental and epileptic encephalopathy (DEE), usually not associated with any brain structural counterpart.

Case description

We report the occurrence of a super-refractory status epilepticus (SRSE) in a 2-month-old infant, who presented at birth with refractory neonatal seizures attributed to an extensive bilateral polymicrogyria and cortical dysplasia. Upon his SRSE, he responded radically to the sodium-channel blocker phenytoin with complete seizure resolution and has remained seizure free during the 2-year follow-up period. A SCN2A pathogenic variant was found with predicted gain-of-function effect. Notably, brain MRI findings during the neonatal ictal phase showed signs of hypoxia with cytotoxic and vasogenic oedema, corresponding to the ictal localisation. These changes were not observed upon repetition of the brain MRI during the SRSE at 2 months of age, perhaps suggesting increased neonatal vulnerability to hypoxia in the presence of an SCN2A variant, that modifies over time.

Conclusion

Our case report highlights the importance of challenging our clinical management in the presence of refractory seizures attributed solely to a structural cause, with genetic testing providing a key insight for therapeutic management.

导言SCN2A突变与广泛的表型谱有关，其中包括发育性和癫痫性脑病（DEE），通常不伴有任何脑部结构上的对应症状。病例描述我们报告了一名2个月大的婴儿发生超级难治性癫痫状态（SRSE）的病例，该婴儿出生时出现难治性新生儿癫痫发作，原因是双侧广泛的多小脑和皮质发育不良。在接受 SRSE 治疗后，他对钠通道阻滞剂苯妥英产生了根本性的反应，癫痫发作完全缓解，并且在两年的随访期间一直没有癫痫发作。研究发现了一个 SCN2A 致病变异体，预测其具有功能增益效应。值得注意的是，新生儿发作期的脑磁共振成像结果显示出缺氧迹象，并伴有细胞毒性和血管源性水肿，与发作期的定位相对应。这些变化在 2 个月大时重复进行 SRSE 期间的脑磁共振成像检查时没有观察到，这或许表明在 SCN2A 变异的情况下，新生儿对缺氧的脆弱性增加，而这种脆弱性会随着时间的推移而发生改变。结论：我们的病例报告强调了在出现仅由结构性原因引起的难治性癫痫发作时，挑战我们的临床管理的重要性，基因检测为治疗管理提供了关键的见解。

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引用次数: 0

Seizure and coma with overdose dextromethorphan: A case report 过量使用右美沙芬导致癫痫发作和昏迷：病例报告

Brain and Development Case Reports

Pub Date : 2024-06-21 DOI: 10.1016/j.bdcasr.2024.100027

Ken Nakano , Shingo Numoto , Akihisa Okumura , Kazuhiro Hirata , Sachie Kaneko , Yoichiro Oro

Background

Dextromethorphan (DXM) is a commonly used anti-tussive drug. DXM overdose can elicit neurobehavioral effects, such as hallucinations, stimulation, euphoria, and dissociation, and rarely cause seizures or coma.

Case report

A 14-year-old Japanese female was referred to the emergency department of our hospital in a coma following a seizure. She had no history of epilepsy or psychiatric diseases. Initially, the underlying causes of the coma and seizures were unclear. However, several used DXM packages were found in her school bag, and an overdose was suspected. The patient was diagnosed with DXM overdose. The neurobehavioral symptoms resolved without specific treatments. DXM concentrations in the blood and cerebrospinal fluid were 830 and 320 ng/mL, respectively.

Conclusion

The possibility of DXM overdose should be considered in patients admitted with seizures or comas of unknown cause.

背景右美沙芬（DXM）是一种常用的抗惊厥药物。病例报告一名 14 岁的日本女性在癫痫发作后昏迷不醒，被转诊到我院急诊科。她没有癫痫或精神病史。最初，昏迷和癫痫发作的根本原因并不清楚。然而，在她的书包里发现了几包用过的 DXM，怀疑是用药过量所致。患者被诊断为 DXM 药物过量。神经行为症状无需特殊治疗即可缓解。血液和脑脊液中的 DXM 浓度分别为 830 纳克/毫升和 320 纳克/毫升。

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引用次数: 0

Spinal cord ischemia revealed in the context of altered consciousness: A pediatric case report 意识改变时显示脊髓缺血：儿科病例报告

Brain and Development Case Reports

Pub Date : 2024-06-21 DOI: 10.1016/j.bdcasr.2024.100026

Sarah Cellauro , Christian Korff , Maria Brunella Cipullo , Maria Isabel Vargas , Angelo Polito , Tiphaine Corbisier

Background

Spinal cord ischemia (SCI) is a rare but often devastating vascular disorder that may be caused by one of several etiologies and may be challenging to diagnose.

Case presentation

The patient exhibited alarming symptoms, including profound fatigue, altered consciousness, and hypercapnia, necessitating intubation. Notably, urinary retention was present, and initial investigations, including a normal brain computed tomography (CT) scan and lumbar puncture, failed to elucidate the underlying issue. Subsequent spinal magnetic resonance imaging (MRI) revealed a cervical spinal cord T2 hyperintensity, accompanied by signal restriction on diffusion-weighted sequences (DWI), leading to the diagnosis of SCI. Following this, the patient developed left hemiplegia. However, the clinical presentation exhibited a swift improvement, and complete resolution occurred within a week under the administration of intravenous steroids.

Discussion/conclusion

This case underscores the diagnostic challenge posed by SCI, particularly in the pediatric population. The swift response to intravenous steroids suggests a potential inflammatory component, implicating vasospasm or a minor spinal artery lesion. The suspected connection to prior microtrauma to the cervical spine during physical activity highlights the importance of considering vascular complications in the context of sports-related injuries. This report contributes to the understanding of SCI in children and emphasizes the need for heightened awareness among healthcare professionals when encountering similar clinical scenarios.

背景脊髓缺血（SCI）是一种罕见但往往具有破坏性的血管疾病，可能由多种病因之一引起，诊断起来很困难。病例介绍患者表现出令人震惊的症状，包括极度疲劳、意识改变和高碳酸血症，因此必须插管治疗。值得注意的是，患者出现了尿潴留，而最初的检查，包括正常的脑部计算机断层扫描（CT）和腰椎穿刺，都未能阐明根本问题。随后的脊髓磁共振成像（MRI）显示颈椎脊髓T2高密度，伴有弥散加权序列（DWI）信号受限，从而诊断为SCI。随后，患者出现左侧偏瘫。然而，患者的临床表现迅速好转，在静脉注射类固醇后一周内症状完全消失。对静脉注射类固醇的迅速反应表明可能存在炎症因素，牵涉到血管痉挛或脊髓小动脉病变。怀疑与之前在体育活动中对颈椎造成的微小创伤有关，这强调了在考虑运动相关损伤时考虑血管并发症的重要性。本报告有助于人们了解儿童 SCI，并强调医护人员在遇到类似临床情况时需要提高警惕。

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引用次数: 0

Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1 与 RYR1 的一个新型错义变异有关的家族性高钙血症和运动诱发的肌痛

Brain and Development Case Reports

Pub Date : 2024-06-20 DOI: 10.1016/j.bdcasr.2024.100025

Takuya Hiraide , Wakako Yoshioka , Yusuke Ito , Rei Urushibata , Taiju Hayashi , Hidetoshi Ishigaki , Ichizo Nishino , Tokiko Fukuda

Background

RYR1 (ryanodine receptor 1), which functions as a calcium release channel in the sarcoplasmic reticulum and is associated with the susceptibility to malignant hyperthermia and several myopathies. Serum creatine kinase (CK) levels are important for the diagnosis of patients with neuromuscular diseases; however, CK levels can be elevated even in individuals without obvious clinical symptoms. Recently, RYR1 was reported as one of the genes responsible for asymptomatic or paucisymptomatic hyperCKemia.

Case presentation

Here, we report the case of a family with autosomal dominant hyperCKemia. The fraternal twin sisters complained of exertional myalgia after exercise, such as playing basketball, without evidence of muscle weakness or fatigue. Serum CK levels of the twin sister patients ranged from 642 U/L to 5620 U/L and from 411 U/L to 2609 U/L, respectively. The mother had hyperCKemia (523 U/L) without any neuromuscular symptoms. Muscle biopsy from one of the twin sisters showed no necrotic fibers, several regenerating fibers, and several fibers with internal nuclei. Exome sequencing of the same patient identified a novel, possibly pathogenic variant (NM_000540.3:c.682G>A, p.Glu228Lys) in RYR1. This variant was also detected by Sanger sequencing in another sister and mother with hyperCKemia.

Conclusions

Patients with possible pathogenic variants in RYR1 are at risk for malignant hyperthermia susceptibility and rhabdomyolysis. Genetic analyses, including RYR1 for cases with asymptomatic or paucisymptomatic hyperCKemia may be useful in identifying individuals at potential risk of malignant hyperthermia susceptibility and rhabdomyolysis.

背景RYR1（雷诺丁受体 1）是肌浆网中的一种钙释放通道，与恶性高热和多种肌病的易感性有关。血清肌酸激酶（CK）水平对神经肌肉疾病患者的诊断非常重要；然而，即使没有明显临床症状的人，CK 水平也会升高。最近，有报道称 RYR1 是导致无症状或少症状高肌酸激酶血症的基因之一。这对异卵双胞胎姐妹在打篮球等运动后出现劳累性肌痛，但无肌无力或疲劳症状。孪生姐妹的血清 CK 水平分别为 642 U/L 至 5620 U/L 和 411 U/L 至 2609 U/L 不等。母亲患有高CK血症（523 U/L），但没有任何神经肌肉症状。孪生姐妹之一的肌肉活检显示没有坏死纤维，有几条再生纤维，几条纤维有内核。同一患者的外显子组测序确定了 RYR1 中一个可能致病的新型变异体（NM_000540.3:c.682G>A, p.Glu228Lys）。结论RYR1中可能存在致病变异的患者有恶性高热惊厥易感性和横纹肌溶解症的风险。基因分析，包括对无症状或少症状高钙血症病例的 RYR1 基因分析，可能有助于识别恶性高热惊厥易感性和横纹肌溶解症的潜在风险个体。

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引用次数: 0

Two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome with different outcomes 两例与COVID-19相关的失血性休克和脑病综合征，结果各不相同

Brain and Development Case Reports

Pub Date : 2024-06-14 DOI: 10.1016/j.bdcasr.2024.100024

Keiichiro Toma , Kazunori Aoki , Hiroshi Kurosawa , Masahiro Nishiyama , Azusa Maruyama

Background

Severe cases due to acute encephalopathy in patients with coronavirus disease 2019 (COVID-19) have been reported. Among acute encephalopathies, the cytokine storm type has a poor prognosis and no established treatment. Here, we describe two cases of COVID-19-related hemorrhagic shock and encephalopathy syndrome (HSES) with different outcomes.

Case presentation

Case 1 was a 2-year-11-month-old girl with no medical history. She developed a fever on the first day of the illness and was admitted to our pediatric intensive care unit (PICU) on day two due to status epilepticus. She had refractory shock from arrival, and was diagnosed with HSES. On day three, both pupils were dilated. A brain computed tomography (CT) scan showed diffuse cerebral edema. The electroencephalogram showed electrocerebral inactivity; brainstem reflexes were not observed. The patient died on day 13. Case 2 was a 6-year-old boy with a history of febrile seizures. He developed a fever on the first day of the illness and was admitted to our PICU on day three due to status epilepticus. A brain CT on admission showed cerebral edema. He developed hypotensive shock after admission, and was diagnosed with HSES. He received multidisciplinary treatment, and was extubated on day eight. The patient was diagnosed with HSES and received multidisciplinary treatment. The patient recovered and was extubated on day eight. He was discharged on day 17. Case 2 had a shorter duration of hypotension, temperature management at a lower temperature, and more aggressive anti-seizure medication use.

Conclusion

Circulatory stabilization is essential for hypothermia therapy and aggressive anti-seizure medication use, and important in terms of maintaining cerebral circulation. Therefore, early recovery from shock appeared to be the most crucial factor affecting the outcomes of both cases.

背景有报道称，冠状病毒病 2019（COVID-19）患者因急性脑病而导致严重病例。在急性脑病中，细胞因子风暴型预后较差，且没有成熟的治疗方法。在此，我们描述了两例与COVID-19相关的出血性休克和脑病综合征（HSES），其结局各不相同。病例 1 是一名 2 岁 11 个月大的女童，无病史，发病第一天发烧，第二天因癫痫状态被送入儿科重症监护室（PICU）。入院后出现难治性休克，被诊断为 HSES。第三天，双瞳散大。脑部计算机断层扫描（CT）显示弥漫性脑水肿。脑电图显示脑电活动缺失，未观察到脑干反射。患者于第 13 天死亡。病例 2 是一名 6 岁男孩，有发热性癫痫发作病史。他在发病第一天发烧，第三天因癫痫状态被送入我们的重症监护病房。入院时的脑部 CT 显示有脑水肿。入院后出现低血压休克，被诊断为 HSES。他接受了多学科治疗，并于第八天拔管。患者被诊断为 HSES，并接受了多学科治疗。患者康复后于第八天拔管。他于第 17 天出院。病例 2 的低血压持续时间较短，体温控制在较低温度，抗癫痫药物的使用也更积极。因此，尽早从休克中恢复似乎是影响两个病例结果的最关键因素。

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引用次数: 0

Acute liver failure worsened after respiratory syncytial virus infection in an infant with spinal muscular atrophy type I after receiving onasemnogene abeparvovec 一名Ⅰ型脊髓性肌萎缩症婴儿在接受onasemnogene abeparvovec治疗后，因感染呼吸道合胞病毒而导致急性肝功能衰竭恶化

Brain and Development Case Reports

Pub Date : 2024-06-07 DOI: 10.1016/j.bdcasr.2024.100022

Shohei Sakemi , Takako Fujita , Noriyuki Kaku , Shuichi Yatsuga , Kazutoshi Ito , Daiki Sasaoka , Hiromi Yamaguchi , Hitomi Hayashi , Takahito Inoue , Kanako Higashi , Yasunari Sakai , Shouichi Ohga , Shinichiro Nagamitsu

Background

Onasemnogene abeparvovec (OA) is an adeno-associated viral type 9 (AAV9) vector-based gene replacement therapy for infants with spinal muscular atrophy (SMA) if they are negative for anti-AAV9 antibodies. However, serious adverse events were reported after OA treatment.

Case presentation

A 2-month-old infant received a diagnosis of SMA type I because of progressive weakness and the result of genetic screening. The detectable anti-AAV9 antibody titers prompted us to start risdiplam immediately as the first-line treatment. OA was administered 7 months after birth when the titers declined to be negative. Fever and slightly elevated levels of transaminases were found one week after OA and improved spontaneously. Two months after OA, acute liver failure developed in association with respiratory syncytial virus infection. Intensive care with steroid therapy rescued this patient from life-threatening hepatopathy.

Discussion/conclusion

The anti-AAV9 antibody delayed OA in the early diagnosed case of SMA. The literature review found that all cases of liver failure occurred within the first 2 months of OA. Hepatopathy needs to be controlled in SMA cases with OA because of the potential factors to augment liver damage during infection.

背景Onasemnogene abeparvovec（OA）是一种基于腺相关病毒9型（AAV9）载体的基因替代疗法，适用于抗AAV9抗体阴性的脊髓性肌萎缩症（SMA）婴儿。病例介绍一名 2 个月大的婴儿因进行性乏力和基因筛查结果被诊断为 SMA I 型。可检测到的抗 AAV9 抗体滴度促使我们立即开始利血平作为一线治疗。出生 7 个月后，当滴度下降至阴性时，我们开始使用 OA。OA 一周后发现发热和转氨酶水平轻微升高，并自行好转。OA 两个月后，由于呼吸道合胞病毒感染，出现了急性肝功能衰竭。讨论/结论抗 AAV9 抗体延迟了早期确诊 SMA 病例的 OA。文献综述发现，所有肝功能衰竭病例都发生在 OA 的最初 2 个月内。由于感染过程中存在加重肝损伤的潜在因素，因此需要对患有 OA 的 SMA 病例进行肝病控制。

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