Brain and Development Case Reports最新文献_第3页

Severe pediatric case of longitudinally extensive transverse myelitis, brainstem encephalitis, and peripheral neuropathy with double positive anti-glial fibrillary acidic protein α and anti-lactosylceramide antibodies 小儿纵向广泛横脊髓炎、脑干脑炎、周围神经病变双阳性抗胶质纤维酸性蛋白α和抗乳糖神经酰胺抗体病例

Brain and Development Case Reports

Pub Date : 2025-08-28 DOI: 10.1016/j.bdcasr.2025.100105

Satoru Ikemoto , Tetsumaru Fujita , Haruka Takami , Ken Ito , Toshiki Tsunogai , Norimichi Higurashi , Satoshi Matsushima , Akio Kimura , Takayoshi Shimohata , Tatsuro Mutoh

Background

We present a pediatric case of longitudinally extensive transverse myelitis, brainstem encephalitis, and peripheral neuropathy, double positive for anti-glial fibrillary acidic protein (GFAP)α and anti-lactosylceramide (LacCer) antibodies, presenting GFAP-astrocytopathy (GFAP-A) and encephalo-myelo-radiculo-neuropathy (EMRN).

Case presentation

A 12-year-old boy presented with headaches and fever for 10 days. Initial clinical evaluation revealed hyponatremia, urinary retention, and altered consciousness with confusion. Brain magnetic resonance imaging (MRI) demonstrated a hyperintense abnormality in the splenium of the corpus callosum on T2- and diffusion-weighted images, consistent with reversible splenial lesion syndrome. The patient progressively experienced decreased consciousness and brainstem dysfunction (hypoventilation and brainstem reflex loss), was admitted to the intensive care unit, and treated for severe cardiac dysfunction and acute respiratory distress. Methylprednisolone, immunoglobulin, and plasma exchange were intravenously administered. A second MRI scan on day 31 showed multiple long T2 lesions in the brainstem and its surface, basal ganglia, thalamus, claustrum, white matter, and cerebellum. Spinal MRI revealed a longitudinally extensive spinal cord lesion extending into the central gray matter and enhanced nerve roots. Neural conductivity examination revealed motor axonopathy and loss of F-waves. Anti-GFAPα antibodies in the cerebrospinal fluid (CSF) and anti-LacCer antibodies in the serum and CSF were present. Gradually, the patient recovered from cardiac dysfunction and regained respiration and brainstem reflexes. Severe lower-limb-dominant flaccid paralysis and bladder and bowel dysfunctions remained.

Discussion/Conclusion

This severe case of overlapping anti-GFAPα and anti-LacCer antibodies highlights the importance of careful autoantibody examination in cases with EMRN and/or GFAP-A.

我们报告了一例纵向广泛横脊髓炎，脑干脑炎和周围神经病变的儿童病例，抗胶质纤维酸性蛋白(GFAP)α和抗乳糖神经酰胺（LacCer）抗体双阳性，表现为GFAP-星形细胞病（GFAP- a）和脑-髓-神经根神经病（EMRN）。病例介绍：一名12岁男孩，以头痛发烧10天为主诉。初步临床评估显示低钠血症、尿潴留、意识改变及意识混乱。脑磁共振成像（MRI）在T2和弥散加权图像上显示胼胝体脾脏高强度异常，符合可逆性脾损害综合征。患者逐渐出现意识下降和脑干功能障碍（通气不足和脑干反射丧失），入住重症监护病房，并因严重心功能障碍和急性呼吸窘迫治疗。甲基强的松龙、免疫球蛋白和血浆置换静脉注射。第31天第二次MRI扫描显示脑干及其表面、基底节区、丘脑、屏状体、白质和小脑多发长T2病变。脊髓MRI显示纵向广泛的脊髓病变，延伸到中央灰质和增强的神经根。神经传导检查显示运动轴突病和f波丧失。脑脊液中存在抗gfap α抗体，血清和脑脊液中存在抗laccer抗体。患者逐渐从心功能障碍中恢复，呼吸和脑干反射恢复。严重的下肢弛缓性麻痹和膀胱和肠功能障碍仍然存在。讨论/结论这一严重的抗gfap α和抗laccer抗体重叠病例强调了在EMRN和/或GFAP-A病例中仔细检查自身抗体的重要性。

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引用次数: 0

A child case presenting with diffuse dural thickening due to a coma after unsuccessful treatment for a first-episode neuromyelitis optica spectrum disorder 儿童病例表现为弥漫性硬脑膜增厚由于昏迷后治疗失败的首发视神经脊髓炎频谱障碍

Brain and Development Case Reports

Pub Date : 2025-08-27 DOI: 10.1016/j.bdcasr.2025.100106

Hayato Nishibayashi, Osamu Kobayashi, Tomoki Maeda, Kenji Ihara

Introduction

Fulminant demyelinating diseases, including neuromyelitis optica spectrum disorder (NMOSD), progress rapidly with severe outcomes. We report a pediatric case of NMOSD with diffuse brain edema and a poor neurological prognosis.

Case presentation

A 6-year-old boy received an influenza vaccination 12 days prior to onset, and subsequently developed fever, headache, decreased urination frequency, and constipation. He presented with seizures and a disturbance of consciousness accompanied by hyperthermia (> 41 °C). Physical examination revealed tachycardia, neck stiffness, and papilledema. Magnetic resonance imaging (MRI) revealed scattered white matter lesions on T2-weighted images (T2WI) and longitudinally extensive spinal cord lesions from C4 to Th9. A cerebrospinal fluid (CSF) examination revealed elevated pressure and pleocytosis. Despite performing methylprednisolone pulse therapy following the diagnosis of NMOSD, the patient developed distributive shock. Intensive care was introduced, but the patient developed severe brain edema, and his consciousness did not recover after the cessation of intensive care. On day 30, an EEG revealed a flat trace. On day 38, contrast-enhanced MRI revealed diffuse dural thickening. Serum anti-aquaporin-4 antibodies and anti-myelin oligodendrocyte glycoprotein antibodies were negative.Discussion: We speculate that the combination of hyperthermia, intracranial hypertension, and distributive shock led to severe cerebral ischemia in this case. Even in the absence of overt brain edema the initial MRI, a severe clinical course may still occur.

Conclusion

In cases of acute encephalopathy or encephalitis presenting with spinal cord symptoms, hyperthermia, and intracranial hypertension, aggressive temperature and circulatory management under intensive care is essential to prevent severe brain edema.

暴发性脱髓鞘疾病，包括视神经脊髓炎谱系障碍（NMOSD），进展迅速，后果严重。我们报告一例小儿NMOSD伴弥漫性脑水肿和神经预后不良。一名6岁男孩在发病前12天接种了流感疫苗，随后出现发烧、头痛、排尿次数减少和便秘。患者表现为癫痫发作和意识障碍，并伴有高热（41°C）。体格检查显示心动过速、颈部僵硬和乳头水肿。磁共振成像（MRI）显示T2WI上分散的白质病变和纵向广泛的脊髓病变，从C4到Th9。脑脊液检查显示血压升高和细胞增多。尽管在诊断为NMOSD后进行了甲基强的松龙脉冲治疗，但患者发生了分布性休克。经重症监护，患者出现严重脑水肿，停止重症监护后意识未恢复。第30天，脑电图显示一条平坦的痕迹。第38天，MRI增强显示弥漫性硬脑膜增厚。血清抗水通道蛋白-4抗体和抗髓鞘少突胶质细胞糖蛋白抗体均为阴性。讨论：我们推测，在这个病例中，热疗、颅内高压和分布性休克共同导致了严重的脑缺血。即使在最初的MRI中没有明显的脑水肿，严重的临床过程仍然可能发生。结论急性脑病或脑炎患者出现脊髓症状、高热、颅内高压时，在重症监护下进行积极的体温和循环管理是防止严重脑水肿的必要措施。

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引用次数: 0

Cytotoxic white matter lesions in Menkes disease: A case report of centrum semiovale involvement 门克斯病的细胞毒性白质病变：半卵圆椎体受累1例

Brain and Development Case Reports

Pub Date : 2025-08-20 DOI: 10.1016/j.bdcasr.2025.100103

Aki Kawakami , Mikako Enokizono , Sahoko Miyama

Background

Menkes disease is a rare disorder of copper metabolism characteristically presenting kinky hair as well as neurological symptoms, including epilepsy, developmental delay, and hypotonia. While the kinky hair is a consistent and distinguishing feature, the other symptoms are nonspecific. Neuroimaging studies often find vascular tortuosity and cerebral atrophy whereas white matter involvement is less well-characterized. Most of the lesions stem from vasogenic edema, and reports of cytotoxic changes are rare.

Case presentation

We report herein a 10-month-old, male patient with Menkes disease who presented with developmental delay and epileptic spasms. Diffusion-weighted imaging (DWI) revealed symmetrical, oval-shaped areas of hyperintensity with a decreased apparent diffusion coefficient (ADC) in the bilateral centrum semiovale. Proton magnetic resonance spectroscopy (¹H-MRS) demonstrated elevated lactate, suggesting an underlying mitochondrial dysfunction.

Conclusion

The findings of the present case indicated that Menkes disease can present not only vascular abnormalities but also cytotoxic white matter lesions in the centrum semiovale, thus highlighting the risk of metabolic injury in addition to that of ischemia.

背景：menkes病是一种罕见的铜代谢障碍，其特征是头发卷曲以及神经系统症状，包括癫痫、发育迟缓和张力低下。虽然卷曲的头发是一个一致的和显著的特征，但其他症状是非特异性的。神经影像学研究经常发现血管扭曲和脑萎缩，而白质受累则不太明显。大多数病变源于血管源性水肿，细胞毒性改变的报道很少。我们在此报告一例10个月大的Menkes病男性患者，表现为发育迟缓和癫痫性痉挛。弥散加权成像（DWI）显示双侧半瓣中央对称椭圆形高强度区域，表观弥散系数（ADC）降低。质子磁共振波谱（1H-MRS）显示乳酸升高，提示潜在的线粒体功能障碍。结论Menkes病不仅表现为血管异常，还表现为半卵圆椎体白质细胞毒性病变，提示除了缺血外，还存在代谢性损伤的风险。

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引用次数: 0

Long-term natural course of spinal deformity in a patient with type 1 spinal muscular atrophy: A case report 1型脊髓性肌萎缩症患者脊柱畸形的长期自然病程：1例报告

Brain and Development Case Reports

Pub Date : 2025-08-20 DOI: 10.1016/j.bdcasr.2025.100104

Chikao Ohigashi , Masako Tsukanaka , Kenji Inoue

Background

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and weakness. Patients with type 1 SMA become symptomatic within the first 6 months of their lives. As most patients die before the age of 2, spinal deformity has not been a clinical problem; however, with the emergence of disease-modified therapies (DMT), longer survival is expected. Nonetheless, little is known about the natural long-term course of spinal deformities in patients with type 1 SMA. Case presentation: We report a case of type 1 SMA treated with supportive care without DMT until the age of 22. Radiography revealed a bell-shaped chest at 9 months of age. Thoracic scoliosis was first observed at age 3, progressed to a Cobb angle of 68° at age 13, and remained stable until the age of 26 years. Computed tomography (CT) images obtained after skeletal maturity revealed thoracic lordosis and spontaneous fusion of the lumbar laminae.

Discussion

Respiratory failure is the leading cause of death with type 1 SMA, and chest wall deformities can result in reduced breathing capacity and tracheal obstruction. In this case, the slow progression of the deformities may have contributed to the stable ventilation. Thoracic lordosis was also observed. This finding contrasts with the previously reported thoracic kyphosis in patients with type 2 SMA. Three-dimensional computerised tomography (3DCT) images demonstrated laminar fusion, which contributed to spinal stability.

脊髓性肌萎缩症（SMA）是一种以肌肉萎缩和无力为特征的神经肌肉疾病。1型SMA患者在其生命的前6个月内出现症状。由于大多数患者在2岁之前死亡，脊柱畸形并不是一个临床问题；然而，随着疾病修饰疗法（DMT）的出现，生存期有望延长。然而，对于1型SMA患者脊柱畸形的自然长期病程知之甚少。病例介绍：我们报告了一例1型SMA患者，在22岁之前一直接受支持性治疗，没有DMT。x线片显示9个月大时胸部呈钟形。3岁时首次观察到胸椎侧凸，13岁时发展为68°Cobb角，并保持稳定直到26岁。骨骼成熟后获得的计算机断层扫描（CT）图像显示胸前凸和腰椎椎板的自发融合。呼吸衰竭是1型SMA患者死亡的主要原因，胸壁畸形可导致呼吸能力降低和气管阻塞。在这种情况下，畸形的缓慢进展可能有助于稳定的通气。还观察到胸前凸。这一发现与先前报道的2型SMA患者的胸后凸形成对比。三维计算机断层扫描（3DCT）图像显示椎板融合有助于脊柱稳定。

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引用次数: 0

Paroxysmal dyskinesia on awakening: A new familial form of non- kinesigenic dyskinesia 觉醒时的阵发性运动障碍：一种新的家族性非运动源性运动障碍

Brain and Development Case Reports

Pub Date : 2025-08-18 DOI: 10.1016/j.bdcasr.2025.100101

Natan Gadoth

Background

The sleep-to-wake and wake –to –sleep transitions known also as post and pre- dormitum are short events resulting from fine activation and deactivation of brain-stem and forebrain modulatory systems. Although sleep related movement disorders (SRMD) were recognized as a new category of sleep disorders since the 2nd version of the International Classification of Sleep Disorders, (ICSD-2), the mentioned list of those disorders did not include movement disorders occurring just before falling asleep or on awakening. Moreover, in a review of sleep-to-wake transitional movement disorders, only propriospinal myoclonus was mention as occurring during awakening.

Case presentation

we describe a brother and sister with chronic short events of dyskinesia occurring exclusively on awakening from nocturnal as well as daytime sleep, without evidence of additional neurological or medical abnormalities. Both siblings showed a prompt response to low dose of clonazepam (clonex^R), with long term and complete remission and without ill side effects. The clinical characteristics of this particular movement disorder are unique. A short video clip of the brother is included.

Conclusion

Our patients suffer from paroxysmal non-kinesigenic dyskinesia. The relation to sleep suggests that the disorder in our patients represents a new and unique form of familial paroxysmal hypnogenic dyskinesia responsive to clonazepam.

从睡眠到清醒和从清醒到睡眠的转变也被称为寝室后和寝室前，是由脑干和前脑调节系统的精细激活和失活引起的短暂事件。虽然自第二版国际睡眠障碍分类（ICSD-2）以来，睡眠相关运动障碍（SRMD）被认为是睡眠障碍的一个新类别，但上述这些障碍的列表并不包括发生在入睡前或醒来时的运动障碍。此外，在一篇关于睡眠-觉醒过渡运动障碍的综述中，只有本体脊髓性肌阵挛被提到在觉醒时发生。我们描述了一对兄弟姐妹，他们有慢性短期运动障碍事件，只发生在夜间和白天睡眠醒来时，没有其他神经或医学异常的证据。两名兄弟姐妹对低剂量氯硝西泮（clonexR）均表现出迅速反应，长期完全缓解，无不良副作用。这种特殊的运动障碍的临床特征是独特的。视频中还包括了一段小弟弟的视频片段。结论本组患者存在阵发性非运动性运动障碍。与睡眠的关系表明，我们患者的障碍代表了一种新的独特形式的家族性阵发性催眠性运动障碍对氯硝西泮的反应。

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引用次数: 0

A case of Duchenne muscular dystrophy who received a short course of exon-skipping therapy 20 years ago has maintained good cardiac function 一例杜氏肌营养不良症患者在20年前接受短疗程的外显子跳跃治疗后保持良好的心功能

Brain and Development Case Reports

Pub Date : 2025-08-13 DOI: 10.1016/j.bdcasr.2025.100102

Yuka Ishikawa , Toshihiko Miura , Yoshinori Nambu , Hiroyuki Awano , Yasuhiro Takeshima , Yukitoshi Ishikawa , Masafumi Matsuo

Background

Duchenne muscular dystrophy (DMD) is a fatal, progressive muscle atrophy and most patients die before the age of 30 from complications of heart failure. We treated a DMD patient (Patient 0) with exon-skipping therapy using antisense oligonucleotides (ASO) for about one year 20 years ago. In this study, Patient 0 was re-evaluated based on hospital medical records using seven DMD patients of the same generation as controls

Case presentation

Patient 0 was one of the youngest of the eight patients in terms of age at loss of ambulation, indicating that his disease progression was rapid prior to the start of the treatment. However, his age at the start of 24-h ventilator use was the second oldest of the eight patients, indicating slow disease progression after the end of the treatment. Patient 0, now 31 years old, had normal level of serum N-terminal pro-B-type natriuretic peptide, a marker of myocardial damage, and no heart failure level of left ventricular ejection fraction in cardiac function. Patient 0 was the only patient of his generation who did not have heart failure.

Discussion/conclusion

These results suggest that short-term ASO treatment may be effective in preserving respiratory and cardiac function. However, these results were obtained in only one case, and need to be reconfirmed by accumulating long-term follow-up cases of ASO-treated patients in the future.

杜氏肌营养不良症（DMD）是一种致命的进行性肌肉萎缩，大多数患者在30岁之前死于心力衰竭的并发症。20年前，我们使用反义寡核苷酸（ASO）外显子跳跃疗法治疗了一位DMD患者（患者0）约一年。在本研究中，根据医院病历对患者0进行了重新评估，使用了与对照组同一代的7名DMD患者。病例表现：患者0是8名患者中最年轻的丧失活动能力的患者之一，这表明他的疾病在治疗开始前进展迅速。然而，他开始使用24小时呼吸机时的年龄在8名患者中排名第二，表明治疗结束后疾病进展缓慢。患者0,31岁，血清n端前b型利钠肽（心肌损伤的标志）水平正常，心功能左室射血分数无心力衰竭水平。0号病人是他这一代人中唯一没有心衰的病人。讨论/结论短期ASO治疗可有效保护呼吸和心脏功能。然而，这些结果仅在一例中获得，需要在未来积累aso治疗患者的长期随访病例来再次证实。

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引用次数: 0

A case of acute renal failure requiring blood purification after status epilepticus 癫痫持续状态后需要血液净化的急性肾衰竭1例

Brain and Development Case Reports

Pub Date : 2025-07-29 DOI: 10.1016/j.bdcasr.2025.100100

Kazuo Kubota , Junko Naito , Miho Adachi , Hidenori Ohnishi

Background

The prognosis for patients with status epilepticus (SE) can be poor because of various organ dysfunctions including renal complications such as acute kidney injury caused by rhabdomyolysis, acute renal failure with loin pain and patchy renal ischemia after anaerobic exercise, and acute uric acid nephropathy. We report a case of acute renal failure requiring hemodiafiltration (HDF) after SE.

Case presentation

The patient was a 20-year-old man with intractable focal epilepsy. He was treated with zonisamide, clobazam, lamotrigine, lacosamide, and topiramate. SE occurred suddenly after he had breakfast. When he arrived at our hospital, his SE had ceased and he had a decreased level of consciousness. His respiratory sounds were weak and gasping breaths were noted. Blood examination tests showed marked metabolic acidosis, hyperlactatemia, elevated creatinine, and hypokalemia. Because his uric acid level increased to 24.0 and he had become anuric, he was started on HDF. The cause of acute renal failure was thought to be acute uric acid nephropathy. Three days after the start of HDF, urination started. HDF was terminated on the 7th day and he was discharged from hospital on the 42nd day.

Conclusion

Young adult men with greater muscle mass may experience increased nucleotide breakdown during seizures, raising serum uric acid levels, and potentially leading to a risk of acute uric acid nephropathy. Because there is a risk of serious organ damage including acute renal failure such as acute uric acid nephropathy after SE, a patient's general condition after SE should be monitored carefully.

背景癫痫持续状态（SE）患者的预后可能较差，因为多种器官功能障碍包括肾脏并发症，如横纹肌溶解引起的急性肾损伤、无氧运动后伴有腰痛和斑片状肾缺血的急性肾功能衰竭、急性尿酸肾病。我们报告一例急性肾衰竭需要血液滤过（HDF）后SE。患者为20岁男性，患有顽固性局灶性癫痫。给予唑尼沙胺、氯巴赞、拉莫三嗪、拉克沙胺和托吡酯治疗。他在吃过早饭后突然发病。当他到达我们医院时，他的SE已经停止，他的意识水平下降。他的呼吸声音微弱，有喘气声。血液检查显示明显的代谢性酸中毒、高乳酸血症、肌酐升高和低钾血症。由于他的尿酸水平上升到24.0，他已经无尿酸，他开始使用HDF。急性肾功能衰竭的原因被认为是急性尿酸肾病。HDF开始3天后开始排尿。HDF于第7天终止，第42天出院。结论：肌肉量较大的年轻成年男性在癫痫发作时可能经历核苷酸分解增加，血清尿酸水平升高，并可能导致急性尿酸肾病的风险。由于SE术后存在严重器官损害的风险，包括急性肾功能衰竭，如急性尿酸肾病，因此应仔细监测SE术后患者的一般情况。

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引用次数: 0

Early onset respiratory failure in two pairs of unrelated Japanese siblings with SELENON-related myopathy 早发性呼吸衰竭的两对无亲缘关系的日本兄弟姐妹与selenon相关的肌病

Brain and Development Case Reports

Pub Date : 2025-07-29 DOI: 10.1016/j.bdcasr.2025.100099

Manaka Matsunaga , Shinsuke Maruyama , Tomomi Nakamura , Chihiro Yonee , Takahiro Yonekawa , Yujiro Higuchi , Yasuhiro Okamoto

Background

SELENON-related myopathy is an autosomal recessive muscle disorder caused by SELENON variants and is clinically characterized by prominent axial muscle weakness, scoliosis, and severe respiratory dysfunction.

Case presentation

We present two pairs of Japanese siblings with SELENON-related myopathies. In all our cases, the initial symptoms were noted before the age of one year. All patients developed motor developmental delay and one of four individuals demonstrated poor weight gain. They started using noninvasive positive pressure ventilation between 5 and 9 years of age, and at least three of them did not complain of any symptoms until respiratory assessment. One patient presented with scoliosis and became wheelchair-bound at 11 years of age. Muscle pathology revealed nonspecific myopathic findings in all patients. They demonstrated a homozygous missense variant, c.1574T>G (p.Met525Arg), in SELENON.

Conclusion

In SELENON-related myopathy, respiratory function should be regularly examined, and noninvasive mechanical ventilation can be appropriately introduced. Therefore, we recommend the early diagnosis of SELENON-related myopathy.

SELENON相关肌病是由SELENON变异引起的常染色体隐性肌肉疾病，临床特征为显著的轴向肌无力、脊柱侧凸和严重的呼吸功能障碍。我们报告两对日本兄弟姐妹与硒相关的肌病。在我们所有的病例中，最初的症状都是在一岁之前出现的。所有患者都出现了运动发育迟缓，四个人中有一人表现出体重增加不佳。他们在5至9岁之间开始使用无创正压通气，其中至少有三人在呼吸评估之前没有抱怨任何症状。一名患者表现为脊柱侧凸，并在11岁时不得不坐轮椅。所有患者的肌肉病理均显示非特异性肌病。他们在SELENON中发现了一个纯合错义变体c.1574T>G （p.Met525Arg）。结论硒酸钠相关性肌病患者应定期检查呼吸功能，并可适当引入无创机械通气。因此，我们建议早期诊断硒酸钠相关肌病。

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引用次数: 0

Non-invasive functional testing facilitates diagnostic confirmation in glucose transport 1 deficiency syndrome 无创功能检测有助于葡萄糖转运1缺乏综合征的诊断确认

Brain and Development Case Reports

Pub Date : 2025-07-18 DOI: 10.1016/j.bdcasr.2025.100098

Wui-Kwan Wong , Bindu Parayil Sankaran , Josep Bonet , Vincent Petit , Teresa Marzulli , Julie Curtin , Emma Hackett , Shanti Balasubramaniam

Background

Glucose transporter type 1 deficiency syndrome (Glut1DS) is an autosomal dominant neurometabolic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose transport across the blood-brain barrier. Manifestations include epilepsy, movement disorders, and developmental delay. Historically, diagnosis is made by a combination of clinical phenotype, cerebrospinal fluid (CSF) analysis showing hypoglycorrhachia and identifying a pathogenic variant in SLC2A1. Manifestations are often refractory to symptomatic medications. Classical ketogenic or modified Atkins diet should be started early and is highly effective in mitigating symptoms.

Methods and results

We report a 5-year-old, developmentally normal female who presented with early onset absence seizures at eight months of age that were refractory to treatment with ethosuximide. Electroencephalogram showed a generalised 3 Hz spike and wave activity suggestive of absence seizures. CSF glucose level was 2.1 mmol/L (reference range 2.8–4.4 mmol/L) with CSF: blood glucose ratio 0.48 (normal range 0.41–0.88). Epilepsy gene panel testing identified a de novo variant of unknown significance in SLC2A1 (c.730 A>G (p.Met244Val)). Given the diagnostic uncertainty, direct quantification of Glut1 by flow cytometry (METAglut1 assay) was performed on whole blood, demonstrating a 25 % reduction in Glut1 protein expression at the proband's red blood cell membrane, consistent with Glut1DS. She was started on the modified Atkins diet with complete cessation of absence seizures after 24 h on the diet, was later weaned off ethosuximide and remained seizure free.

Conclusions

Non-invasive Glut1 testing can be performed with rapid turnaround (2 h from sample preparation to results) in suspected Glut1DS patients, facilitating diagnostic confirmation and early treatment initiation.

葡萄糖转运蛋白1型缺乏综合征（Glut1DS）是一种常染色体显性神经代谢疾病，由SLC2A1的致病变异引起，导致葡萄糖在血脑屏障中的转运受损。表现为癫痫、运动障碍和发育迟缓。从历史上看，诊断是通过结合临床表型、脑脊液（CSF）分析显示低糖血症和鉴定SLC2A1的致病变异来进行的。症状通常对对症药物难以治愈。经典生酮饮食或改良阿特金斯饮食应尽早开始，对缓解症状非常有效。方法和结果我们报告了一名5岁发育正常的女性，她在8个月大时出现早发性失神性癫痫发作，对乙磺酰亚胺治疗难治。脑电图显示普遍的3hz尖峰和波活动提示失神癫痫。脑脊液葡萄糖水平为2.1 mmol/L（参考范围2.8 ~ 4.4 mmol/L），脑脊液：血糖比值为0.48（正常范围0.41 ~ 0.88）。癫痫基因面板检测在SLC2A1中发现了一种意义未知的新变异（c.730）A> G (p.Met244Val))。考虑到诊断的不确定性，流式细胞术（metglut1测定）对全血进行了Glut1的直接定量，显示先证者红细胞膜上Glut1蛋白表达减少了25%，与Glut1DS一致。患者开始采用改良的阿特金斯饮食，24小时后癫痫发作完全停止，后来停用乙氧亚胺，仍无癫痫发作。结论对疑似Glut1DS患者进行无创Glut1检测，从制样到出结果只需2小时，周期短，有利于诊断确认和早期治疗启动。

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引用次数: 0

Sialidosis type1 with cardiac malformation: A case report 1型唾液中毒合并心脏畸形1例

Brain and Development Case Reports

Pub Date : 2025-07-17 DOI: 10.1016/j.bdcasr.2025.100097

Motoko Otsuka , Shigeru Nagaki , Kaoru Eto , Yasushi Ito , Hitoshi Sakuraba , Kohji Itoh , Hideshi Yamamura , Kei Inai , Makiko Osawa , Satoru Nagata

Background

Sialidosis is a rare autosomal recessive lysosomal storage disease caused by a variant in the neuraminidase 1 (NEU1) gene encoding lysosomal neuraminidase, and is a rare cause of progressive myoclonus epilepsies (PME). Sialidosis is classified into two types. Sialidosis type 1 is a relatively mild late-onset form with ataxia, myoclonus, macular cherry-red spot, seizures, and non-dysmorphic features. Sialidosis type 2 has congenital, infantile and juvenile-onset forms, and has more severe feature, including ascites, coarse facies, dysostosis multiplex, macular cherry-red spot, hepatosplenomegaly, and developmental delay than type 1.

Case report

Our case, a 29-year-old male, had shown normal development up to the age of 12 years and 5 months. Subsequently, he developed ataxia and myoclonus. At age 12 years and 11 months, generalized tonic-clonic seizures occurred with ataxia, myoclonus, intentional tremor, borderline intelligence, and cherry-red macular spot. Skin fibroblast enzymological analysis of neuraminidase yielded a value below 1 nmol/h/mg protein. NEU1 gene findings were consistent with compound heterozygous missense variant c.1034C>T(p.Thr345Ile) and c.239C>T(p.Pro80Leu), while electron microscopy of skinfibroblasts showed vacuoles and dense body deposition in both neuroblasts and Schwann cells. In addition, this is the first reported case of sialidosis type 1 associated with a quadricuspid aortic valve malformation.

Conclusion

Collectively, the above findings indicated a diagnosis of sialidosis type 1 with cardiac malformation. The involuntary movement improved temporarily in response to clonazepam but then gradually worsened. During 17 years of follow-up, his seizures were controlled with anticonvulsants, but the ataxia, myoclonus and intentional tremor gradually worsened.

唾液中毒是一种罕见的常染色体隐性溶酶体贮积病，由编码溶酶体神经氨酸酶的神经氨酸酶1 （NEU1）基因变异引起，是进行性肌梭性癫痫（PME）的罕见病因。唾液中毒分为两种类型。1型唾液中毒是一种相对轻微的迟发性唾液中毒，伴有共济失调、肌颤、樱桃红斑、癫痫发作和非畸形特征。2型唾液中毒有先天性、婴儿期和少年期发病形式，与1型相比，其特征更为严重，包括腹水、粗相、多重消化不良、黄斑樱桃红斑、肝脾肿大和发育迟缓。病例报告本病例为29岁男性，12岁零5个月前发育正常。随后，他出现共济失调和肌阵挛。12岁11个月时，全身性强直阵挛发作伴共济失调、肌阵挛、故意震颤、边缘性智力和樱桃红色黄斑。皮肤成纤维细胞神经氨酸酶的酶学分析结果低于1 nmol/h/mg蛋白。NEU1基因的发现与复合杂合错义变异c.1034C>；T（p.Thr345Ile）和c.239C>；T（p.Pro80Leu）一致，而皮肤成纤维细胞电镜下神经母细胞和雪旺细胞均可见空泡和致密体沉积。此外，这是第一例报道的1型唾液中毒与四尖瓣主动脉瓣畸形相关的病例。结论1型唾液中毒合并心脏畸形。不自主运动在氯硝西泮的作用下暂时得到改善，但随后逐渐恶化。在17年的随访中，他的癫痫发作被抗惊厥药物控制，但共济失调、肌阵挛和故意震颤逐渐恶化。

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