Brain and Development Case Reports最新文献

{"title":"Cerebrospinal fluid leakage after COVID-19: A pediatric case","authors":"Rika Tobiume ,&nbsp;Yukihiko Konishi ,&nbsp;Kosuke Koyano ,&nbsp;Shinji Nakamura ,&nbsp;Sae Nishisho ,&nbsp;Takayuki Wakabayashi ,&nbsp;Noriko Fuke ,&nbsp;Ami Mizuo ,&nbsp;Takuma Iwaki ,&nbsp;Takashi Kusaka","doi":"10.1016/j.bdcasr.2024.100019","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100019","url":null,"abstract":"<div><h3>Background</h3><p>Various neurological and psychiatric symptoms have emerged after infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which is the virus that causes coronavirus disease 2019 (COVID-19). These symptoms include exercise intolerance such as muscle weakness, fatigue, and pain as well as cognitive and mood disorders (brain fog). Further, frequent autonomic disorders such as hypotension and hypothermia have been recognized in adults and children, many of whom have been diagnosed with orthostatic dysregulation (OD). Some children with OD have developed cerebrospinal fluid leakage (CFL).</p></div><div><h3>Case Presentation</h3><p>Herein, we describe the case of a boy aged 9 years and 9 months who presented with orthostatic headaches, dizziness, and nausea. He was diagnosed with CFL after SARS-CoV-2 infection when a spinal MRI revealed an incomplete floating dural sac sign in the thoracic and lumbar spine. An epidural saline injection was administered, and he was discharged after his symptoms improved.</p></div><div><h3>Discussion/Conclusion</h3><p>The causes of CFL include trauma due to accidents or sports, or are idiopathic due to unknown causes. However, the onset of CFL might involve COVID-19. Understanding the relationship between COVID-19 and CFL onset may lead to better treatment outcomes for children with apparent symptoms of OD, such as orthostatic headaches, dizziness, and nausea, after contracting COVID-19.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000151/pdfft?md5=58c98bd702d075ba176b424a8dab2400&pid=1-s2.0-S2950221724000151-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077927","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":"Dramatic benzodiazepine receptor downregulation observed in holoprosencephaly with drug-resistant epilepsy","authors":"Kousuke Nakamura ,&nbsp;Sayaka Ishii ,&nbsp;Kei Tamaru ,&nbsp;Takeshi Inukai ,&nbsp;Masao Aihara ,&nbsp;Yoshimi Kaga","doi":"10.1016/j.bdcasr.2024.100020","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100020","url":null,"abstract":"<div><h3>Background</h3><p>Holoprosencephaly (HPE), a central nervous system malformation caused by a defect in the separation of cerebral hemispheres during development, is associated with drug-resistant epilepsy. Animal studies on HPE have suggested its association with dysplasia of the inhibitory interneurons in the cerebral cortex; however, this association has not been reported in patients with HPE. In this study, we presented cases of three children with HPE who were examined for the distribution of benzodiazepine receptors, which are receptors of the inhibitory system, using ¹²³I-iomazenil single-photon emission computed tomography (SPECT).</p></div><div><h3>Case presentation</h3><p>All three children had drug-resistant epilepsy with frequent daily seizures. ^99mTc ethyl cysteinate dimer (ECD) SPECT and ¹²³I-iomazenil SPECT were performed to evaluate the epileptogenicity. ^99mTc ECD SPECT showed generalized only cerebral hypoperfusion, and ¹²³I-iomazenil SPECT showed widespread benzodiazepine receptor depression in the cerebrum, thalamus, and brainstem. Although, benzodiazepines, including clonazepam, clobazam, and lorazepam have limited effects on epileptic seizures, the addition of levetiracetam led to the reduction in seizure frequency in all three patients.</p></div><div><h3>Conclusion</h3><p>The SPECT findings in children with HPE suggested a defect in the development of GABAergic-benzodiazepinergic inhibitory neurons, especially in the thalamus and brainstem. Therefore, it is inferred that conventional antiepileptic drugs that potentiate the mechanisms of inhibitory neurons are less effective. Agents, with alternative mechanisms of action may be useful for the treatment of refractory epilepsy.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000163/pdfft?md5=5a3443e732e6a17a1c88ae76703d0f91&pid=1-s2.0-S2950221724000163-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072943","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":"Progress in cardiorespiratory fitness and motor coordination skills in children with attention-deficit/hyperactivity disorder with easy fatigue and physical inactivity due to the side effects of guanfacine extended-release","authors":"Ken Kikuchi ,&nbsp;Midori Hayashi ,&nbsp;Manami Honda","doi":"10.1016/j.bdcasr.2024.100017","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100017","url":null,"abstract":"<div><h3>Introduction</h3><p>Guanfacine extended-release (GXR), a medication administered to treat attention-deficit/hyperactivity disorder (ADHD), demonstrates side effects, including hypotension, bradycardia, sedation, and somnolence. Children with ADHD with easy fatigue and physical inactivity caused by these side effects have been reported in clinical practice. ADHD medications improve motor function in the short term. Herein, we report the progress in cardiorespiratory fitness (CRF) and motor function of children with ADHD with easy fatigue and physical inactivity after GXR treatment.</p></div><div><h3>Case presentation</h3><p>A 7-year-old patient with ADHD began to demonstrate marked fatigue and physical inactivity after taking GXR. His treatment was then combined with physical therapy which was continued once a month for approximately one year and included a treadmill exercise test (10-minute walk with a multistep load protocol of 3.0–8.0 km/h) and instruction in motor coordination skills, including home exercises. The GXR dose was increased approximately every 9–10 months, considering the weight and increasing problems at home. Motor coordination skills improved immediately after the increased GXR dose, and the CRF progressed well as the effect of medication subsided.</p></div><div><h3>Discussion/Conclusion</h3><p>Fatigue and physical inactivity should be considered in exercise therapy in combination with GXR administration. Thus, combined exercise therapy and medication that considers CRF and skill acquisition status may be effective for children with ADHD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000138/pdfft?md5=eaad3f139612902633ffee0008507ab5&pid=1-s2.0-S2950221724000138-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140816744","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":"ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability","authors":"Satomi Okano ,&nbsp;Yoshio Makita ,&nbsp;Yuki Ueda ,&nbsp;Akie Miyamoto ,&nbsp;Hajime Tanaka ,&nbsp;Kumiko Yanagi ,&nbsp;Tadashi Kaname","doi":"10.1016/j.bdcasr.2024.100016","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100016","url":null,"abstract":"<div><h3>Background</h3><p>Sodium/potassium (Na⁺/K⁺) ATPase is a heteromeric protein complex responsible for maintaining the Na⁺/K⁺ electrochemical gradient across the neuronal plasma membrane. The α₃ isoform of the Na⁺/K⁺ ATPase, encoded by <em>ATP1A3</em>, acts as a rescue pump and is predominantly present in the neurons of the central nervous system. The <em>de novo</em> variants of <em>ATP1A3</em> cause several distinct neurological syndromes.</p></div><div><h3>Case</h3><p>We presented the case of a boy with no family history of neurological diseases who was harboring a <em>de novo</em> pathogenic variation, NM_152296:c.974G &gt; T, p.Gly325Val, in <em>ATP1A3</em>. He presented with a rare spastic paraplegia of the lower extremities, autism spectrum disorder, and intellectual disability.</p></div><div><h3>Discussion and conclusion</h3><p>Previous studies have demonstrated the <em>ATP1A3</em> variant p.Gly325 to be pathogenic for dystonia, face dysmorphia, encephalopathy, brain magnetic resonance imaging abnormalities, and no hemiplegia. A recent study has revealed, for the first time, the development of spastic paraplegia as a manifestation of the <em>de novo ATP1A3</em> p.Pro775Leu pathogenic variant. In this case report, we concluded that another <em>de novo</em> pathogenic variation in <em>ATP1A3</em>, p.Gly325Val, manifests as spastic paraplegia and intellectual disability in the index patient. These results suggest that <em>ATP1A3</em> is a novel causative gene of hereditary spastic paraplegia.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000126/pdfft?md5=37966604029c10c2d51110aa000d5840&pid=1-s2.0-S2950221724000126-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140632529","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":"A case of SCN8A-related developmental epileptic encephalopathy diagnosed by clinical speculation driven targeted DNA sequencing and remission of epilepsy by sodium channel blockers combination therapy","authors":"Yoshitaka Mitsui ,&nbsp;Hitoshi Sato ,&nbsp;Sumihito Togi ,&nbsp;Hiroki Ura ,&nbsp;Yo Niida","doi":"10.1016/j.bdcasr.2024.100015","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100015","url":null,"abstract":"<div><h3>Background</h3><p><em>SCN8A</em>-related epilepsy and/or neurodevelopmental disorders encompass a very broad spectrum of phenotypes. The most severe form, <em>SCN8A</em> developmental and epileptic encephalopathy (DEE), develops intractable epilepsy from early infancy and can lead to sudden death. Early diagnosis and therapeutic intervention are essential, but diagnosis is based on genetic testing and definitive diagnosis is often delayed.</p></div><div><h3>Case report</h3><p>A 4-month-old girl presented with intractable epilepsy. Most antiepileptic drugs were ineffective, but high doses of phenytoin suppressed seizures, so a sodium channelopathy was suspected and targeted DNA sequencing was performed, which revealed a pathogenic missense variant Val1315Met in the <em>SCN8A</em> gene. Based on the diagnosis, combination therapy with sodium channel blockers (SCBs) was initiated and the seizures resolved.</p></div><div><h3>Conclusion</h3><p>We experienced SCN8A-DEE, which led to early diagnosis based on clinical course and improved prognosis. It is noteworthy that even when the effect of a single SCB is insufficient, as in this case, combination therapy can lead to seizure free in <em>SCN8A</em>-DEE.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000114/pdfft?md5=c2b03afa5c9c502e8a31a1152be803d9&pid=1-s2.0-S2950221724000114-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140546103","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":"Long-term follow-up case of 14q12 deletion syndrome: A case report","authors":"Yu Aihara ,&nbsp;Noriko Sumitomo ,&nbsp;Yuko Shimizu-Motohashi ,&nbsp;Ken Inoue ,&nbsp;Yu-ichi Goto ,&nbsp;Hirofumi Komaki","doi":"10.1016/j.bdcasr.2024.100013","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100013","url":null,"abstract":"<div><h3>Background</h3><p>14q12 deletion syndrome is characterized by hypotonia, postnatal microcephaly, intellectual disability, epilepsy, involuntary movements, and loss of corpus callosum. Reported cases described only the childhood period, resulting in the scarcity of information on its long-term clinical course up to adulthood.</p></div><div><h3>Case presentation</h3><p>We herein present a 40-year-old man with 14q12 deletion. He has never acquired head control and speech and is bedridden with spastic quadriplegia, joint contractures, scoliosis, and chorea. During the first few years, functional movements were observed, which gradually disappeared. Brain magnetic resonance imaging revealed partial hypoplasia of the corpus callosum. At 19 years, a feeding tube was placed, and at 21 years, tracheostomy was introduced due to recurrent aspiration pneumonia. Although the patient experienced tonic seizures from infancy, they disappeared at 20 years of age. Microarray comparative genomic hybridization (CGH) test at age 40 confirmed a 3.95-Mb heterozygous deletion on 14q12, encompassing <em>FOXG1</em>, <em>NOVA1</em>, <em>C14orf23</em>, and <em>PRKD1</em>. The deletion was considered to be the cause of this case.</p></div><div><h3>Conclusion</h3><p>The present case describes the characteristic features and long-term clinical course of a patient with 14q12 deletion syndrome. Health issues associated with dysphagia and respiration could be prominent in the mid- to late teens, and seizures may be less problematic at adulthood.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000096/pdfft?md5=444a8a22d4b1a4c20b29b4d12e207762&pid=1-s2.0-S2950221724000096-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140346861","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":"First reported pediatric case of left internal carotid artery stenosis in myelin oligodendrocyte glycoprotein antibody-associated disease","authors":"Eri Hasegawa ,&nbsp;Jun Kubota ,&nbsp;Taku Gomi ,&nbsp;Shuntaro Terayama ,&nbsp;Taiki Homma ,&nbsp;Haruna Suzuki ,&nbsp;Yoichi Takemasa ,&nbsp;Ryota Saito ,&nbsp;Kenta Horimukai ,&nbsp;Noriko Takahata","doi":"10.1016/j.bdcasr.2024.100014","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100014","url":null,"abstract":"<div><h3>Background</h3><p>Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) mimics the clinical and imaging findings of small-vessel central nervous system (CNS) angiitis. An adult case of MOGAD causing right middle cerebral artery stenosis was reported in 2023. Here, we present the first reported pediatric case of left internal carotid artery stenosis in a patient with MOGAD.</p></div><div><h3>Case presentation</h3><p>A previously healthy 13-year-old boy presented with a two-day history of fever and headache. He experienced sudden focal-onset impaired awareness tonic seizures on the right side, with right ocular deviation. Seizure activity ceased within 5 min, but unconsciousness and paralysis of the right face and right upper extremity persisted on admission. There were no other abnormal neurological findings. Blood tests revealed mildly elevated levels of inflammatory markers. Cerebrospinal fluid examination revealed a normal protein level of 39.3 mg/dL but an elevated cell count of 154/µL and an oligoclonal band. Fluid-attenuated inversion recovery MRI sequences revealed hyperintensities in the left basal ganglia and left frontoparietal cortex. Magnetic resonance angiography revealed left internal carotid artery stenosis. Subsequently, MOGAD was diagnosed based on a positive MOG antibody test result. He received three courses of methylprednisolone pulse therapy followed by oral prednisolone for 10 weeks. His symptoms, parenchymal brain lesions, and vascular stenosis all improved with treatment.</p></div><div><h3>Discussion/Conclusion</h3><p>MOGAD may be associated with vascular stenosis by inducing a perivascular immune response. MOGAD may mimic CNS angiitis, including that of medium- and large-sized vessels. The presence of vascular stenosis does not rule out MOGAD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000102/pdfft?md5=1dc63a4b16ed06850a985011140c9524&pid=1-s2.0-S2950221724000102-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140341327","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":"Paraneoplastic neurological syndromes presenting with paraneoplastic ptosis in an infant with acute lymphoblastic leukemia: A case report","authors":"Eri Ohashi,&nbsp;Itaru Hayakawa,&nbsp;Yuichi Abe","doi":"10.1016/j.bdcasr.2024.100011","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100011","url":null,"abstract":"<div><h3>Background</h3><p>Paraneoplastic neurological syndromes (PNS) are rare in children. Unlike adults, children present with a variety of atypical neurological symptoms that are difficult to diagnose. Consequently, PNS remains an underrecognized disorder. Nevertheless, appropriate immunomodulatory therapy is crucial for neurological prognosis and should not be overlooked. We report a case in which intravenous immunoglobulin therapy effectively treated PNS while treating leukemia.</p></div><div><h3>Case report</h3><p>A 1.5-year-old girl with B-cell precursor acute lymphoblastic leukemia was referred to our neurology department with ptosis that developed 6 weeks after leukemia treatment and worsened over 8 days. Neurological evaluation revealed normal pupils, no ocular paralysis, no proximal muscle weakness, normal tendon reflexes, and no autonomic neuropathy. Cerebrospinal fluid and brain magnetic resonance imaging findings were normal. Antibodies against the acetylcholine receptor and P/Q-type voltage-gated calcium channels were negative. Low- and high-frequency repetitive median nerve stimulation tests revealed normal findings. We suspected PNS at the neuromuscular junction due to the persistent ptosis that occurred during leukemia treatment. Intravenous immunoglobulin therapy was effective, and ptosis disappeared after 2 weeks. The patient received standard chemotherapy for leukemia, and the ptosis did not relapse for 1 year.</p></div><div><h3>Conclusion</h3><p>Persistent ptosis in cancer patients requires appropriate evaluation and extensive differentiation for myasthenic syndrome. Timely treatment with immunomodulatory therapy improves neurological prognosis when PNS is suspected.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000072/pdfft?md5=b8621f2b6a3889d3c4199bfbcf231222&pid=1-s2.0-S2950221724000072-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140122832","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":"Electroencephalographic features in a case of hypersomnia due to an optic nerve glioma","authors":"Azusa Shinozaki ,&nbsp;Norimichi Higurashi ,&nbsp;Haruka Takami ,&nbsp;Takaya Honda ,&nbsp;Erika Hiwatari ,&nbsp;Takaaki Yanagisawa ,&nbsp;Takashi Kanbayashi","doi":"10.1016/j.bdcasr.2024.100010","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100010","url":null,"abstract":"<div><h3>Background</h3><p>Orexin is secreted in the lateral hypothalamic area and is essential for wakefulness. Impaired secretion of orexin in patients with hypothalamic lesions results in secondary hypersomnia. However, reports on the EEG features of secondary hypersomnia are limited.</p></div><div><h3>Case presentation</h3><p>A 16-year-old boy experienced hypersomnia, cognitive impairment, and memory deficits during maintenance treatment for an optic nerve glioma involving the optic chiasm. Brain MRI revealed that the tumor had enlarged beyond the suprasellar region and compressed the hypothalamus, midbrain, suprasellar nucleus, and basal forebrain. EEG recording during hypersomnia showed repetitive high-voltage, frontal dominant delta wave bursts regardless of whether the patient was sleeping or awake, indistinct sleep humps and spindles, and disruption of sleep architecture. Additional chemotherapy alleviated the hypersomnia, and delta wave bursts were no longer observed on EEG. Orexin levels in the cerebrospinal fluid were extremely low on admission but increased after the disappearance of hypersomnia.</p></div><div><h3>Discussion and Conclusion</h3><p>Hypersomnia in this case may be associated not only with impaired orexin production due to hypothalamic lesions, but also with dysfunction of the other arousal networks, including the basal forebrain and brainstem. The association between repetitive high-voltage delta wave bursts on EEG and secondary hypersomnia has not been previously described. Although the pathophysiological basis remains unclear, the damage to such multiple wake-promoting networks may be involved in the characteristic EEG finding.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000060/pdfft?md5=13035efe84b0ef2955606ca15a3ac960&pid=1-s2.0-S2950221724000060-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140122831","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":"Delayed visual improvement in a pediatric patient with anti-AQP4 antibody-positive neuromyelitis optica spectrum disorder after acute immunomodulatory treatment: A case report","authors":"Megumi Yonekawa ,&nbsp;Makoto Nishioka ,&nbsp;Shiori Yazawa ,&nbsp;Manami Yabe ,&nbsp;Tsubasa Murase ,&nbsp;Daisuke Matsuoka ,&nbsp;Toru Kurokawa ,&nbsp;Tetsuhiro fukuyama","doi":"10.1016/j.bdcasr.2024.100012","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100012","url":null,"abstract":"<div><h3>Background</h3><p>Neuromyelitis optica spectrum disorder (NMOSD) requires early therapeutic intervention to prevent relapse and further complications. Studies in adult patients with steroid-resistant NMOSD have indicated that the duration between disease onset and plasma exchange (PE) initiation significantly impacts prognosis, and that symptoms resolve within one month after PE in most cases. However, research assessing the prognostic factors of pediatric NMOSD is limited.</p></div><div><h3>Case presentation</h3><p>We report a 14-year-old boy presenting with progressive visual loss in the left eye and diagnosed with anti-aquaporin-4 antibody-positive NMOSD four months after symptom onset. As the patient proved steroid resistant, PE was performed seven times per month over a three-month period. Although his vision initially continued to deteriorate, magnetic resonance imaging indicated optic nerve lesion regression by the third month of PE. Gradual improvement in visual acuity was observed following combined maintenance treatment with prednisolone and satralizumab from three months after completing acute-phase treatment.</p></div><div><h3>Conclusion</h3><p>Despite the delayed initiation of PE and lack of initial response, acute-phase treatment can contribute to the recovery of visual acuity, which has significant implications, particularly in pediatric NMOSD cases.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000084/pdfft?md5=1517f19669f81ad6b710273a6d87e365&pid=1-s2.0-S2950221724000084-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140122833","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}