Brain and Development Case Reports最新文献

{"title":"Dihydropteridine reductase deficiency: The first Moroccan case report","authors":"Kaoutar Khabbache ,&nbsp;Afaf Lamzouri ,&nbsp;Hanaa Imlahi ,&nbsp;Abdallah Oulmaati","doi":"10.1016/j.bdcasr.2024.100008","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100008","url":null,"abstract":"<div><h3>Background</h3><p>DHPRD (dihydropteridine reductase deficiency) is a very rare disorder that causes hyperphenylalaninemia (HPA), characterized by an accumulation of phenylalanine (Phe) and a profound deficit in the neurotransmitters dopamine and serotonin in the central nervous system with an alteration in folate status. It is an autosomal recessively inherited disorder caused by genetic changes in the <em>QDPR gene.</em></p></div><div><h3>Case presentation</h3><p>A Moroccan 3-year-old girl, from a consanguineous marriage with a history of death and neurological illness in the siblings. The proband presents a very severe clinical picture; profound psychomotor delay with hypotonia, epileptic encephalopathy, abnormal movements and dysautonomia signs. The diagnosis of DHPRD was confirmed by DHPR activity assay and genetic testing. The patient was placed on a Phe-restricted diet and given augmented neurotransmitter therapy, which included levo-dopa/carbidopa, and 5-hydroxytryptophan with folinic acid. The improvement under treatment was not spectacular which is most likely due to the delay in diagnosis and management.</p></div><div><h3>Discussion/conclusion</h3><p>Significant advancements have been achieved in comprehending the physiopathology, the screening procedures, diagnostic techniques, treatment options, and molecular genetics pertaining to DHPRD. However, in countries where neonatal screening for phenylketonuria (PKU) is not established, severe forms of DHPRD with irreversible sequelae continue to be diagnosed. The long-term neurodevelopmental outcomes of patients with DHPRD are strongly influenced by early initiation of effective treatment; therefore, screening for PKU must be systematic and therapy should not be delayed.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000047/pdfft?md5=db1d760d0af0bddc34c95742ff705233&pid=1-s2.0-S2950221724000047-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140024121","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 forced normalization due to perampanel","authors":"Yuta Eguchi ,&nbsp;Nobutsune Ishikawa ,&nbsp;Hiroki Izumo ,&nbsp;Yuichi Tateishi ,&nbsp;Yoshiyuki Kobayashi ,&nbsp;Satoshi Okada","doi":"10.1016/j.bdcasr.2024.100009","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100009","url":null,"abstract":"<div><h3>Background</h3><p>Forced normalization (FN) refers to the onset of psychiatric symptoms following an electroencephalogram (EEG) documented reduction in epileptic activity, cessation of clinical seizures, or both in patients with epilepsy. FN is mainly triggered by anti-seizure medication (ASM). Many ASMs have been implicated in the development of FN. However, few studies have reported perampanel (PER) induced FN.</p><p>Case report: A 10-year-old boy with a history of brain tumor resection was diagnosed with focal epilepsy based on the seizure type and EEG findings. Levetiracetam was irritable and ineffective. Lacosamide provided only partial effectiveness, leading us to prescribe PER as an add-on therapy. Approximately a week after initiating PER, the seizures resolved. However, the patient experienced concomitant emotional and cognitive instability, loss of appetite, and depression. The epileptic discharges ceased a month after starting PER, and we concluded that the FN was attributable to PER. Psychiatric symptoms gradually improved over a few months after the PER dose reduction.</p></div><div><h3>Discussion</h3><p>Patients with structural etiology and focal epilepsy are vulnerable to FN, putting our patients at a high risk for FN. Administration of a new ASM is the most common trigger for FN. This report is the first to describe FN induced by PER. Like other ASMs, psychiatric symptoms, seizure frequency, and EEG changes should be assessed when administering PER. Clinicians should be aware that discontinuing or reducing the dosage of the triggering medication can improve FN symptoms.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000059/pdfft?md5=aa5288aa3926e54d639745070b2732bc&pid=1-s2.0-S2950221724000059-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140024113","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":"Acute brainstem dysfunction in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report","authors":"Fang Wang ,&nbsp;Yuichi Abe ,&nbsp;Mureo Kasahara ,&nbsp;Reiko Horikawa ,&nbsp;Itaru Hayakawa","doi":"10.1016/j.bdcasr.2024.100006","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100006","url":null,"abstract":"<div><h3>Background</h3><p>Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder that causes episodic hyperammonemia. Many newborns with OTCD present with nausea, delirium, lethargy, and seizure during a metabolic attack; however, brainstem failure as a complication has been rarely reported.</p></div><div><h3>Case report</h3><p>A 4-day-old boy developed progressive lethargy and apnea. Neurological examination when he was 5 days old revealed the absence of brainstem responses and the disappearance of systemic deep tendon reflexes with flaccid limbs, and a blood test revealed hyperammonemia (2178 µg/dL). Continuous hemodiafiltration therapy was started immediately, and whole-brainstem reflexes and systemic tendon reflexes reappeared. Subsequent genetic testing revealed a pathogenic variant of the <em>OTC</em> gene (p.D126G). Brain magnetic resonance imaging (MRI) at 11 days of age showed no diffuse brain edema but transient mild swelling of the basal ganglia, hyperintensity of the deep region of the paracentral sulcus and basal ganglia on T1-weighted and fluid-attenuated inversion recovery images, and symmetric restricted diffusion along the pyramidal tract. Of interest was that MRI showed no abnormalities in the brainstem other than in the cerebral peduncles.</p></div><div><h3>Conclusion</h3><p>This is the first detailed report of chronological recovery from brainstem dysfunction in a newborn with OTCD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000023/pdfft?md5=e7496d32e57231e5afdc88fbb4d55e28&pid=1-s2.0-S2950221724000023-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139675761","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":"Differential diagnosis of posterior reversible encephalopathy syndrome and acyclovir neurotoxicity in children: A literature review of acyclovir neurotoxicity","authors":"Shotaro Haraguchi ,&nbsp;Yoshihiro Watanabe ,&nbsp;Yuki Inami ,&nbsp;Mao Odaka ,&nbsp;Hirotaka Motoi ,&nbsp;Kentaro Shiga ,&nbsp;Reo Tanoshima ,&nbsp;Shuichi Ito","doi":"10.1016/j.bdcasr.2024.100007","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100007","url":null,"abstract":"<div><h3>Background</h3><p>Acyclovir (ACV), an antiviral drug commonly used in children, is associated with neuro- and nephron-toxicity. However, ACV neurotoxicity is mainly reported in adults and rare in children. Herein, we report the case of a boy with impaired consciousness following ACV treatment, posing challenges in differentiating posterior reversible encephalopathy syndrome (PRES) from ACV neurotoxicity. Additionally, we reviewed existing literature on ACV neurotoxicity.</p></div><div><h3>Case presentation</h3><p>A healthy 10-year-old boy developed severe headache and intermittent restlessness and was diagnosed with mild encephalitis/encephalopathy showing a reversible splenial lesion on magnetic resonance imaging (MRI). Since herpes simplex encephalitis could not be ruled out, ACV was initially administered. The patient later developed renal dysfunction, hypertension, and conscious disturbance. With a high serum ACV level of 14.3 μg/mL (reference; 0.4–2.0 μg/mL), we suspected PRES or ACV neurotoxicity. Upon discontinuation of ACV and starting antihypertensive therapy, the patient’s consciousness improved, leading to discharge without sequelae. In 14 pediatric cases with ACV neurotoxicity, including our case, the median age at onset was 10 years (range, 0–17 years), with renal dysfunction and high doses of ACV posing risk similar to adult cases. The mean time from ACV discontinuation to complete recovery was 5.6 ± 3.6 days, and the patients’ prognosis was good.</p></div><div><h3>Conclusions</h3><p>When a patient develops neurological symptoms during ACV treatment, considering the simultaneous occurrence of ACV neurotoxicity and PRES is crucial, including measuring their blood pressure, renal function, ACV levels, and MRI. Additionally, dosage should be adjusted based on ACV concentration in blood.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000035/pdfft?md5=b22cf620cdcd81cd9566997633c52c30&pid=1-s2.0-S2950221724000035-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139675345","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":"FGFR1 related Encephalocraniocutaneous lipomatosis in a neonate with congenital hydrocephalus","authors":"Masashi Zuiki ,&nbsp;Tomohiro Chiyonobu ,&nbsp;Hidechika Morimoto ,&nbsp;Hiroko Sawada ,&nbsp;Takenori Tozawa ,&nbsp;Kanae Hashiguchi ,&nbsp;Tatsuji Hasegawa ,&nbsp;Takumi Yamanaka ,&nbsp;Tetsuya Niihori ,&nbsp;Yoko Aoki ,&nbsp;Tomoko Iehara","doi":"10.1016/j.bdcasr.2024.100005","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2024.100005","url":null,"abstract":"<div><h3>Background</h3><p>Encephalocraniocutaneous lipomatosis (ECCL), a type of mosaic RASopathy, is a rare neurocutaneous syndrome characterized by the involvement of tissues with ectodermal and mesodermal origins, including cutaneous, ocular, and neurological abnormalities. This report presents a case of a neonate with ECCL showing rapid progression of hydrocephalus prenatally.</p></div><div><h3>Case presentation</h3><p>A full-term female newborn presented with head circumference enlargement and a bilateral abnormal hair pattern with alopecia at birth. Brain imaging studies showed an enlarged lateral ventricle and fatty mass in the foramen magnum, suggestive of lipomas. Ventriculoperitoneal shunting and a biopsy of the skin lesion on the head were performed on day 18. These clinical, brain imaging, and cutaneous pathological findings led to the definitive diagnosis of ECCL. Furthermore, targeted resequencing revealed an activating mosaic variant of <em>FGFR1</em> in tissue samples of scalp lesions. The patient is now 2 years old with good health and normal development so far, without lipoma expansion or abnormal neurological signs and symptoms.</p></div><div><h3>Conclusion</h3><p>Genetic analysis of lesions is important in cases of congenital hydrocephalus with intraspinal lipoma or nevus psiloliparus. In the present case, ventriculoperitoneal shunting early in life resulted in a good neurological prognosis without lipoma expansion.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221724000011/pdfft?md5=bcf8753a8d818929596fbb847aa000eb&pid=1-s2.0-S2950221724000011-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139675344","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":"Tardive dystonia induced by low-dose gabapentin in a severely disabled patient with epilepsy","authors":"Sachiko Onoe,&nbsp;Satoko Koga,&nbsp;Kana Ushio,&nbsp;Kazumi Hajime,&nbsp;Michiko Shinpo","doi":"10.1016/j.bdcasr.2023.100004","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100004","url":null,"abstract":"<div><h3>Background</h3><p>Gabapentin-related dystonia is rare, occurring mainly at high doses. We herein report a rare case of dystonia induced by low-dose gabapentin.</p></div><div><h3>Case presentation</h3><p>A severely disabled patient was treated for epilepsy with valproate, lamotrigine, and phenytoin. He developed myocarditis at 25 years old, and severe bradycardia was noted 4 years later. Phenytoin was discontinued as it causes bradycardia, which subsequently resolved, and zonisamide was introduced. Seven months later, the patient developed orolingual dyskinesia. Zonisamide was gradually discontinued, and the dyskinesia subsided. He was prescribed gabapentin 100 mg 3 times daily. After 14 months of gabapentin treatment, the patient developed repetitive rotational movements in the torso and right arm. The patient also exhibited laryngeal dystonia and Pisa syndrome. After discontinuation of gabapentin, the movement disorders resolved.</p></div><div><h3>Conclusions</h3><p>In this case, low-dose gabapentin prescription led to dystonia in various parts of the body, including the larynx, as a life-threatening complication. When patients with epilepsy exhibit involuntary movements, the adverse effects of anti-seizure medications should be considered.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221723000041/pdfft?md5=c7eb6e3782738e761906ddfda4df387b&pid=1-s2.0-S2950221723000041-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139398889","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":"Brain and Development Case Reports: A new open forum for child neurology","authors":"Shinji Saitoh MD, PhD (Editor-in-Chief, Brain and Development Case Reports)","doi":"10.1016/j.bdcasr.2023.100001","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100001","url":null,"abstract":"","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221723000016/pdfft?md5=193118eeca17ae7b641e2e0bf925a888&pid=1-s2.0-S2950221723000016-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138739410","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":"Combined therapy of valproic acid and an SMN2 splicing modifier for an adult patient with SMA type II","authors":"Keiko Koterazawa ,&nbsp;Shinji Kitayama ,&nbsp;Hisahide Nishio","doi":"10.1016/j.bdcasr.2023.100002","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100002","url":null,"abstract":"<div><h3>Background</h3><p>Spinal muscular atrophy (SMA) is a lower motor neuron disease caused by <em>Survival of Motor Neuron 1</em> gene (<em>SMN1</em>) deletions or other mutations. SMA is characterized by the progressive deterioration of motor and respiratory functions. New drugs that increase the gene product (SMN protein) levels, such as nusinersen, onasemnogene abeparvovec, and risdiplam, have been reported to ameliorate the symptoms and improve the prognosis of infants with SMA. Among these, nusinersen and risdiplam are <em>SMN2</em> splicing modifiers suitable for patients of all ages. However, these drugs have limited efficacy in older children and adults with SMA. Therefore, there is a need for more effective therapies for these patients.</p></div><div><h3>Case presentation</h3><p>Here, we report an adult patient with SMA type II. The patient was treated with valproic acid (VPA, a histone deacetylase inhibitor) and an <em>SMN2</em> splicing modifier, risdiplam. With the combined therapy of VPA and risdiplam over a period of more than 2 years, the patient’s clinical course was uneventful, without requiring hospitalization for acute illness such as pneumonia. In addition, motor function in the upper extremities improved during this period.</p></div><div><h3>Conclusion</h3><p>Combined treatment with VPA and risdiplam resulted in a stable disease course in our adult SMA patient. Thus, combined therapy consisting of drugs with different mechanisms of action might be effective for adult SMA.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950221723000028/pdfft?md5=6dd3f273c1043df50f2b2d8c14c5c6a4&pid=1-s2.0-S2950221723000028-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138769619","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":"Coexistence of congenital central hypoventilation syndrome, Hirschsprung disease, and Becker muscular dystrophy","authors":"Yuki Kawashima ,&nbsp;Satoka Akiyama ,&nbsp;Yosuke Yamada ,&nbsp;Masahiro Noda ,&nbsp;Kunihiro Oba ,&nbsp;Hirofumi Komaki ,&nbsp;Koji Komori ,&nbsp;Ayako Sasaki ,&nbsp;Masashi Ogasawara","doi":"10.1016/j.bdcasr.2023.100003","DOIUrl":"https://doi.org/10.1016/j.bdcasr.2023.100003","url":null,"abstract":"<div><h3>Background</h3><p>Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder mostly caused by a genetic defect in <em>PHOX2B.</em> We describe for the first time a case of a male patient with the coexistence of CCHS, Hirschsprung disease (HSCR), and Becker muscular dystrophy (BMD).</p></div><div><h3>Case presentation</h3><p>The patient presented with hypoventilation and required ventilatory support during the neonatal period. The diagnosis of CCHS was suspected and confirmed by molecular analysis of the PHOX2B gene, revealing a de novo heterozygous polyalanine repeat-expansion mutation containing 27 repeats (normal gene contains 20 repeats). The patient had tracheostomy at 1 month. He also developed abdominal distention. Contrast enema confirmed the diagnosis of HSCR. Transanal decompression tube was indwelled at 2 months and definitive repair was performed at 14 months. During follow-up, he was found to have elevated creatine kinase levels. The dystrophin gene was screened for deletions by Multiplex ligation-dependent probe amplification (MLPA) and the deletion of exons 45–55 of the DMD gene was detected, leading to the diagnosis of BMD. At 7 years of age, he remains on continuous ventilatory support during sleep. He has difficulty playing sports and myalgia, which could be the symptoms due to BMD. So far, he has not exhibited cardiac abnormalities; his Full-Scale Intelligence Quotient score is within the normal range.</p></div><div><h3>Discussion/Conclusion</h3><p>This case illustrates the importance of recognizing the coexistence of two different monogenic disorders in a single patient and the necessity of appropriate management in patients with CCHS, HSCR, and BMD.</p></div>","PeriodicalId":100196,"journal":{"name":"Brain and Development Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S295022172300003X/pdfft?md5=f30ec856b1f1d2865a5f36cea674335c&pid=1-s2.0-S295022172300003X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138769620","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}