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Alagille syndrome presenting with increased intracranial pressure caused by late-onset craniosynostosis
Brain and Development Case Reports Pub Date : 2025-04-03 DOI: 10.1016/j.bdcasr.2025.100074
Toyo Shimizu , Atsuko Harada , Shigeo Kyutoku , Yuki Wada , Yoshinori Kadono , Kazushige Maeno , Eitaro Hiejima , Koichi Ueda , Haruhiko Kishima
{"title":"Alagille syndrome presenting with increased intracranial pressure caused by late-onset craniosynostosis","authors":"Toyo Shimizu ,&nbsp;Atsuko Harada ,&nbsp;Shigeo Kyutoku ,&nbsp;Yuki Wada ,&nbsp;Yoshinori Kadono ,&nbsp;Kazushige Maeno ,&nbsp;Eitaro Hiejima ,&nbsp;Koichi Ueda ,&nbsp;Haruhiko Kishima","doi":"10.1016/j.bdcasr.2025.100074","DOIUrl":"10.1016/j.bdcasr.2025.100074","url":null,"abstract":"<div><h3>Background</h3><div>Alagille syndrome is characterized by intrahepatic cholestasis and abnormalities in the cardiovascular system, eyes, and vertebrae, along with a characteristic facial appearance. The genes responsible are <em>JAG1</em> and <em>NOTCH2</em>. Although craniosynostosis occurs in approximately 1 % of patients with Alagille syndrome, its pathogenesis remains unclear. We report a case of Alagille syndrome, with late-onset craniosynostosis, which was associated with <em>JAG1</em> gene mutation.</div></div><div><h3>Case presentation</h3><div>A 6 years and 5 months old boy presented with severe headache and vomiting. Magnetic resonance (MR) and computed tomography (CT) imaging revealed cerebellar tonsillar herniation and craniosynostosis of the sagittal, bilateral lambdoid, and coronal sutures. Cranial radiography showed marked digital impressions, and ophthalmological assessment revealed bilateral papilledema and reduced visual acuity, resulting in increased intracranial pressure (ICP). The patient was diagnosed with Alagille syndrome, associated with <em>JAG1</em> gene mutation (heterozygosis c.1492_1495delAATG p.Asn498Glyfs*65). The same pathogenic variant was confirmed in his mother and sister. Although he had a mild hepatic disorder and pulmonary artery stenosis, he had grown uneventfully without developmental delays or growth disorders. Two weeks after the first visit, wide coronal craniotomy was performed to reduce the ICP. The headache and vomiting disappeared immediately after surgery, and the visual acuity and papilledema gradually improved.</div></div><div><h3>Conclusion</h3><div>The NOTCH signaling pathway involving <em>JAG1</em> and <em>NOTCH2</em> genes interacts with fibroblast growth factor receptors and the <em>TWIST1</em> gene contributing to syndromic craniosynostosis. It is important to consider the possibility of craniosynostosis and manage increased ICP early in Alagille syndrome, even at school-going age.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100074"},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143759790","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
Bilateral central retinal artery occlusion in a patient with Duchenne muscular dystrophy
Brain and Development Case Reports Pub Date : 2025-03-26 DOI: 10.1016/j.bdcasr.2025.100073
Fumihito Nozaki
{"title":"Bilateral central retinal artery occlusion in a patient with Duchenne muscular dystrophy","authors":"Fumihito Nozaki","doi":"10.1016/j.bdcasr.2025.100073","DOIUrl":"10.1016/j.bdcasr.2025.100073","url":null,"abstract":"<div><h3>Background</h3><div>Central retinal artery occlusion (CRAO) is a rare emergency ophthalmological condition that causes sudden, acute, painless loss of vision. CRAO is a form of acute ischemic stroke and a harbinger of further cerebrovascular and cardiovascular events. We report the first case of Duchenne muscular dystrophy (DMD) patient with bilateral CRAO.</div></div><div><h3>Case presentation</h3><div>A 29-year-old DMD patient with dilated cardiomyopathy (DCM) presented with sudden, acute, painless loss of vision in the right eye. He was diagnosed with right CRAO by ophthalmological evaluation. Although anterior chamber paracentesis and ocular massage were performed for acute treatment, the patient developed right eye blindness. Due to the absence of thrombus formation, arrhythmia, infection, vasculitis and coagulopathy, antiplatelet therapy was initiated for secondary prevention. One month after the first unilateral CRAO, he developed left CRAO despite antiplatelet therapy.</div></div><div><h3>Conclusions</h3><div>DMD patients with DCM are at potential risk of cerebral infarction, including CRAO. Due to the potential for devastating and permanent complications from CRAO, clinicians should promptly recognize and treat cerebral infarction, including CRAO, in DMD patients.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100073"},"PeriodicalIF":0.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705531","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
Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus
Brain and Development Case Reports Pub Date : 2025-03-24 DOI: 10.1016/j.bdcasr.2025.100069
Takeshi Inoue , Kei Ohashi , Ayako Hattori , Mariko Saito , Tomoshige Tanimura , Daisuke Ieda , Kyoko Ban , Fuyuki Miya , Shinji Saitoh
{"title":"Longitudinal study of EEG patterns in a child with a KCNH1 mutation showing non-epileptic myoclonus","authors":"Takeshi Inoue ,&nbsp;Kei Ohashi ,&nbsp;Ayako Hattori ,&nbsp;Mariko Saito ,&nbsp;Tomoshige Tanimura ,&nbsp;Daisuke Ieda ,&nbsp;Kyoko Ban ,&nbsp;Fuyuki Miya ,&nbsp;Shinji Saitoh","doi":"10.1016/j.bdcasr.2025.100069","DOIUrl":"10.1016/j.bdcasr.2025.100069","url":null,"abstract":"<div><h3>Introduction</h3><div>The potassium voltage-gated channel subfamily H member 1 is encoded by the <em>KCNH1</em> gene. Mutations in <em>KCNH1</em> result in Temple-Baraitser (TBS) and Zimmermann-Laband (ZLS) syndromes, which are characterized by developmental delay, epilepsy, and nail dysplasia. These syndromes have clinical overlap and are found in patients with atypical TBS/ZLS phenotypic features. Although <em>KCNH1</em>-related diseases are associated with a high incidence of epilepsy, electroencephalogram (EEG) changes over time have not been studied. In this study, we investigated the longitudinal evolution of EEG findings and types of seizures from the neonatal period to 6 years of age in a patient with a <em>KCNH1</em> variant.</div></div><div><h3>Case report</h3><div>A 6-year-old girl showed features of <em>KCNH1</em>-related disease. Exome analysis revealed a heterozygous <em>de novo</em> missense variant (NM_172362.3; c.1481T&gt;C; p.Ile494Thr) in <em>KCNH1</em>. She presented generalized tonic-clonic seizures (GTCS) at the age of 3 years and 1 month. She also presented with myoclonus in the neonatal period, determined to be involuntary movement because of the absence of corresponding EEG discharges and persistence. The EEG findings evolved as follows: normal at 1 month of age, multifocal spikes started at 3 months of age, and high-voltage slow waves started at 3 months of age, which initially appeared during awake periods.</div></div><div><h3>Conclusion</h3><div>Patients with a <em>KCNH1</em> variant may have GTCS and involuntary movements including myoclonus. Furthermore, high-voltage slow waves in EEG, which are characteristic of patients with <em>KCNH1</em> variants, were not observed immediately after birth but appeared at several months of age.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100069"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685321","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 case of developmental and epileptic encephalopathy with spike-and-wave activation in sleep with structural etiology treated with corpus callosotomy
Brain and Development Case Reports Pub Date : 2025-03-12 DOI: 10.1016/j.bdcasr.2025.100072
Haruka Nakata , Kiyohiro Kim , Shu Hamada , Kengo Kora , Ichiro Kuki , Noritsugu Kunihiro , Takehiro Uda , Toshiro Maihara
{"title":"A case of developmental and epileptic encephalopathy with spike-and-wave activation in sleep with structural etiology treated with corpus callosotomy","authors":"Haruka Nakata ,&nbsp;Kiyohiro Kim ,&nbsp;Shu Hamada ,&nbsp;Kengo Kora ,&nbsp;Ichiro Kuki ,&nbsp;Noritsugu Kunihiro ,&nbsp;Takehiro Uda ,&nbsp;Toshiro Maihara","doi":"10.1016/j.bdcasr.2025.100072","DOIUrl":"10.1016/j.bdcasr.2025.100072","url":null,"abstract":"<div><h3>Background</h3><div>Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is often refractory to antiseizure medications and steroids, and a longer disease duration is associated with intellectual disabilities. Surgical treatment is sometimes performed; however, there have been few reports of corpus callosotomy.</div></div><div><h3>Case presentation</h3><div>The patient was a 5-year-old girl; at 16 months of age, she experienced seizures that began in her left upper limb and then spread throughout her body. Since then, she has had recurrent episodes. Electroencephalography (EEG) revealed spike-and-wave discharges in the right occipital region. Brain magnetic resonance imaging showed right ventricular enlargement and hemosiderin deposition in the right thalamus. Around the age of 3, she became hyperactive and unable to speak. At 4 years of age, atypical absence seizures appeared and EEG during sleep showed continuous generalized spike-and-wave complexes, leading to the diagnosis of DEE-SWAS. At the time of diagnosis, her developmental quotient (DQ) was 51. However, despite medical treatment, including adrenocorticotropic hormone therapy, she was resistant to these interventions, and her DQ decreased to 39 within approximately 1 year. A total corpus callosotomy was performed at the age of 5 years and 5 months. Postoperatively, epileptic seizures were controlled and the epileptiform discharges was lateralized to the right hemisphere. Additionally, developmental improvements were observed, including increased speech and the ability to anticipate the need for defecation.</div></div><div><h3>Conclusion</h3><div>Early corpus callosotomy can improve seizures and intellectual outcomes in patients with drug-resistant DEE-SWAS with focal lesions that can take time to resolve spontaneously.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100072"},"PeriodicalIF":0.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143611079","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
Two Chinese children with COVID-19 related acute encephalopathy with restricted diffusion
Brain and Development Case Reports Pub Date : 2025-03-07 DOI: 10.1016/j.bdcasr.2025.100070
Wing Ki CHAN, Eric Kin Cheong YAU, Mike Yat Wah KWAN, Grace Sui Fun NG, Kit Yan LEUNG
{"title":"Two Chinese children with COVID-19 related acute encephalopathy with restricted diffusion","authors":"Wing Ki CHAN,&nbsp;Eric Kin Cheong YAU,&nbsp;Mike Yat Wah KWAN,&nbsp;Grace Sui Fun NG,&nbsp;Kit Yan LEUNG","doi":"10.1016/j.bdcasr.2025.100070","DOIUrl":"10.1016/j.bdcasr.2025.100070","url":null,"abstract":"<div><h3>Introduction</h3><div>Acute encephalopathy with biphasic seizure and late restricted diffusion (AESD) is a clinico-radiological syndrome with specific seizure pattern and delayed change in diffusion-weighted magnetic resonance imaging (MRI) of brain. Coronavirus disease 2019 (COVID-19) infection had been reported in association with neurological conditions or complications including AESD. Hereby we described two paediatric cases of definite AESD related to COVID-19 infection.</div></div><div><h3>Case reports</h3><div>Case-1 was a healthy 17-month-old boy presented with clusters of febrile status epilepticus on Day 1. His conscious state remained impaired despite initial seizure cessation. Seizures recurred on Day 6 and MRI brain showed extensive restricted diffusion over bilateral subcortical and deep white matter. He had significant motor regression and developed dystonia and intractable epilepsy subsequently. Case-2 was a 3-year-old girl with underlying developmental delay admitted for fever, coryza and status epilepticus on Day 2 illness. She improved initially but had seizure recurrence and deterioration in sensorium on Day 6. MRI brain showed restricted diffusion over bilateral fronto-temporo-parietal subcortical white matter with relative sparing over peri-rolandic region. Her function returned to baseline upon recovery. COVID-19 infection-associated AESD was diagnosed in both cases and they had been treated with immunotherapies including tocilizumab during acute disease.</div></div><div><h3>Conclusion</h3><div>Prompt seizure control and early immunotherapies are mainstay of treatment for AESD. Worse outcome was observed in patient with elevated interleukin-6 (IL-6) level in serum and cerebrospinal fluid, longer seizure duration in first-phase and more extensive MRI involvement in second-phase of disease. Early use of IL-6 receptor antibody did not improve the neurological outcome in patient with severe disease.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100070"},"PeriodicalIF":0.0,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563632","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 child with four episodes of recurrent reversible splenial lesions without an MYRF variant
Brain and Development Case Reports Pub Date : 2025-03-05 DOI: 10.1016/j.bdcasr.2025.100067
Haruna Mitsuya , Mitsuru Kashiwagi , Takuya Tanabe , Chizu Oba , Hirokazu Kurahashi , Akihisa Okumura , Akira Ashida
{"title":"A child with four episodes of recurrent reversible splenial lesions without an MYRF variant","authors":"Haruna Mitsuya ,&nbsp;Mitsuru Kashiwagi ,&nbsp;Takuya Tanabe ,&nbsp;Chizu Oba ,&nbsp;Hirokazu Kurahashi ,&nbsp;Akihisa Okumura ,&nbsp;Akira Ashida","doi":"10.1016/j.bdcasr.2025.100067","DOIUrl":"10.1016/j.bdcasr.2025.100067","url":null,"abstract":"<div><h3>Background</h3><div>Only a few cases of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) recur. The clinical findings of familial and/or MERS type 2 recurrent cases involving the myelin regulatory factor (<em>MYRF</em>) gene have recently been clarified, but it is unclear how the clinical findings of recurrent cases without an <em>MYRF</em> variant differ from those of cases with an <em>MYRF</em> pathogenic variant.</div></div><div><h3>Case presentation</h3><div>A 5-year-old girl with healthy parents and no previous developmental problems experienced four episodes of reversible splenial lesions. Each episode was observed with three to six recurrent seizures and persistent disturbance of consciousness. Based on magnetic resonance imaging (MRI) findings, the diagnosis was MERS type 2 in two episodes, MERS type 1 in one episode, and MERS type 2 lesions in one episode.</div></div><div><h3>Discussion</h3><div>Recurrent seizures, nonfamilial occurrence, recurrent lesions of different types, isolated splenial lesions in the corpus callosum (CC), and limited spread of white matter lesions were the characteristics of this case. Recurrent lesions of different types and lesions that do not always involve the entire CC or both genial and splenial lesions in the CC may characterize recurrent MERS cases without an <em>MYRF</em> variant. Further comparative investigations should be conducted with a larger number of patients to clarify the differences in clinical findings.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 2","pages":"Article 100067"},"PeriodicalIF":0.0,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549845","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
Sensory tricks initiating before skin contact: New observations in drug-induced tardive dystonia
Brain and Development Case Reports Pub Date : 2025-02-26 DOI: 10.1016/j.bdcasr.2025.100068
Miwa Hagita , Masaya Kubota
{"title":"Sensory tricks initiating before skin contact: New observations in drug-induced tardive dystonia","authors":"Miwa Hagita ,&nbsp;Masaya Kubota","doi":"10.1016/j.bdcasr.2025.100068","DOIUrl":"10.1016/j.bdcasr.2025.100068","url":null,"abstract":"<div><h3>Introduction</h3><div>Dystonia is a movement disorder characterized by involuntary, sustained, or intermittent muscle contractions that often involve abnormalities in sensorimotor integration. Sensory tricks, in which a new sensory input can temporarily correct erroneous motor output, are hallmarks of dystonia. However, the underlying mechanism remains unclear. Here, we report a case of drug-induced tardive dystonia in which the sensory trick effect began <em>before</em> physical contact, providing new insights into its anticipatory processes.</div></div><div><h3>Case report</h3><div>A 17-year-old boy with intellectual disabilities, autism, and behavioral disorders developed torticollis and scoliosis after prolonged treatment with risperidone and levomepromazine. The symptoms included neck muscle co-contraction, leftward rotation, and compensatory scoliosis. A sensory trick was observed; light hand contact with the occiput improved the symptoms. However, the video analysis revealed that symptom relief began during arm movements <em>before</em> physical contact. This suggests the role of proprioception, motor preparation, and motor imagery in the sensory trick phenomenon. Discontinuation of the antipsychotics gradually resolved the symptoms.</div></div><div><h3>Conclusion</h3><div>This report highlights a crucial observation: sensory tricks begin before actual tactile contact, emphasizing the role of proprioceptive signals and motor planning in symptom relief. Anticipatory sensory processing suggests a broader mechanism that extends beyond tactile stimulation. These findings deepen our understanding of sensory tricks in dystonia and their neurophysiological basis, providing insights that could inform therapeutic strategies such as occupational therapy or biofeedback tailored to patients' self-discovered techniques for managing dystonia.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100068"},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143486610","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 case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1
Brain and Development Case Reports Pub Date : 2025-02-12 DOI: 10.1016/j.bdcasr.2025.100066
Tsuyoshi Aihara , Yuichi Abe , Atsushi Nishioka , Itaru Hayakawa
{"title":"A case of severe spinal muscular atrophy type 1 resistant to specific treatment due to a missense variant in the Tudor domain of SMN1","authors":"Tsuyoshi Aihara ,&nbsp;Yuichi Abe ,&nbsp;Atsushi Nishioka ,&nbsp;Itaru Hayakawa","doi":"10.1016/j.bdcasr.2025.100066","DOIUrl":"10.1016/j.bdcasr.2025.100066","url":null,"abstract":"<div><h3>Introduction</h3><div>Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle weakness and atrophy due to degeneration of anterior horn cells in the spinal cord. It typically results from the allele deletion of <em>SMN1</em> alleles (null-<em>SMN1</em>). With the implementation of newborn screening for SMA (SMA-NBS), most null-<em>SMN1</em> patients are diagnosed in a presymptomatic stage.</div></div><div><h3>Case report</h3><div>A full-term male infant initially had a negative SMA-NBS result but presented with muscle weakness within his first month. By two months, genetic testing identified a single allele deletion and a point variant in the Tudor domain of <em>SMN1</em>, along with three copies of <em>SMN2</em>, confirming SMA type I. The patient was treated with onasemnogene abeparvovec (OA) gene therapy. However, despite the presence of three SMN2 copies and OA treatment, he eventually required respiratory support, including tracheostomy and mechanical ventilation. At one year and seven months, risdiplam therapy was initiated.</div></div><div><h3>Conclusion</h3><div>SMA patients with <em>SMN1</em> variants may bypass SMA-NBS and can develop severe SMA, depending on variant type, regardless of <em>SMN2</em> copy number.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100066"},"PeriodicalIF":0.0,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386929","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 case of selective developmental impairment of musical ability: Tone, beat, and chord deafness
Brain and Development Case Reports Pub Date : 2025-01-31 DOI: 10.1016/j.bdcasr.2025.100064
Masayuki Satoh , Yoshito Mizoguchi , Katsuyuki Matsui , Makiko Abe , Ken-ichi Tabei
{"title":"A case of selective developmental impairment of musical ability: Tone, beat, and chord deafness","authors":"Masayuki Satoh ,&nbsp;Yoshito Mizoguchi ,&nbsp;Katsuyuki Matsui ,&nbsp;Makiko Abe ,&nbsp;Ken-ichi Tabei","doi":"10.1016/j.bdcasr.2025.100064","DOIUrl":"10.1016/j.bdcasr.2025.100064","url":null,"abstract":"<div><h3>Introduction</h3><div>This report explores a rare case of musical disability, highlighting the profound impact it can have on an individual's life.</div></div><div><h3>Case presentation</h3><div>Because of the necessity of a medical note for school, a 21-year-old right-handed man received an evaluation at our institute for his musical abilities, which have been severely impaired since birth. He complained about a complete inability to march and dance in time with music. Moreover, his singing was off-key, though he did not notice this on his own. He made a great effort to improve his musical skills with his parents and teachers, but was unable to, which led him to accept these deficits as a personal characteristic. Neurological examination revealed no abnormal findings in his motor, sensory, and coordination systems. His cognitive functions, including general intelligence, memory, constructional ability, frontal lobe, and executive function, were normal. Brain magnetic resonance imaging/magnetic resonance angiography (MRI/MRA) scans were also normal. Neuromusicological assessments revealed severe impairments in pitch perception and expression; rhythm, meter, and beat perception and expression; and chord perception. He was diagnosed with tone, beat, and chord deafness. He also had difficulty perceiving the esthetic characteristics of music, though he did still enjoy listening to it.</div></div><div><h3>Conclusion</h3><div>These musical challenges caused trouble to the patient in many school and daily life scenarios, and the symptoms were often difficult to be understood by teachers. Thus, it is important to raise awareness of such symptoms and conditions, particularly among educators.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100064"},"PeriodicalIF":0.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148724","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
Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant
Brain and Development Case Reports Pub Date : 2025-01-30 DOI: 10.1016/j.bdcasr.2025.100065
Natsumi Ida , Yoshifusa Abe , Ryo Karato , Madoka Shirai , Kaori Kamijo , Mariko Takase , Takeshi Shimizu , Rei Ebata , Takeshi Mikawa , Mitsuhiro Kato
{"title":"Hypertension due to ACTH treatment for lissencephaly with a novel PAFAH1B1 variant","authors":"Natsumi Ida ,&nbsp;Yoshifusa Abe ,&nbsp;Ryo Karato ,&nbsp;Madoka Shirai ,&nbsp;Kaori Kamijo ,&nbsp;Mariko Takase ,&nbsp;Takeshi Shimizu ,&nbsp;Rei Ebata ,&nbsp;Takeshi Mikawa ,&nbsp;Mitsuhiro Kato","doi":"10.1016/j.bdcasr.2025.100065","DOIUrl":"10.1016/j.bdcasr.2025.100065","url":null,"abstract":"<div><h3>Background</h3><div>Many patients with lissencephaly present with infantile epileptic spasms syndrome (IESS) or West syndrome and require adrenocorticotrophic hormone (ACTH) treatment. The difference of adverse events of ACTH treatment between lissencephaly and other disorders is unknown.</div></div><div><h3>Case presentation</h3><div>We report the case of an infant with lissencephaly and IESS followed by severe hypertension with cardiac hypertrophy after ACTH treatment, requiring continuous administration of antihypertensive drugs. The infant was delivered at 39 weeks of gestation with a birth weight of 2484 g and was admitted to the neonatal intensive care unit for transient tachypnea. Brain MRI showed posterior predominant agyria compatible to classical lissencephaly grade 2. He harbored a novel <em>de novo</em> variant of <em>PAFAH1B1</em> or <em>LIS1</em> gene, c.485G&gt;A, p. (Gly162Asp). At the age of 5 months, he developed epileptic spasms with hypsarrhythmia on electroencephalogram, leading to the diagnosis of IESS. ACTH and vitamin B6 treatments were effective for seizures and hypsarrhythmia. However, the patient had hypertension (138/100 mmHg) and cardiac hypertrophy and required continuous administration of nicardipine intravenously(0.6–1.0 μg/kg/min).</div></div><div><h3>Conclusion</h3><div>Patients with lissencephaly might be susceptible to severe cardiac adverse events with ACTH treatment.</div></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":"3 1","pages":"Article 100065"},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143148723","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
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