S. Sanchez-Marco, G. Pierre, P. Sharples, S. Love, K. Urankar, T. Hilliard, P. Lunt, A. Churchill, R. Aungraheeta, A. Dallosso, J. Evans, Maggie Williams, Anirban Majumdar
We describe the clinical, muscle and nerve biopsy, and genetic findings in a 10-year-old girl with a profound and rapid global regression. She presented during neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory, and neck flexor muscles. She developed bilateral cataracts at 4 months of age and started to regress. Quadriceps muscle biopsy revealed extensive fiber atrophy but sparing of some, predominantly type 1, fibers. Sural nerve biopsy showed depletion of myelinated and unmyelinated fibers; most remaining myelinated fibers were of small caliber. Neuroimaging revealed global brain atrophy. Although the investigations indicated a multisystem disorder, extensive genetic and metabolic investigations were negative. She was tracheostomy- and ventilator-dependent for most of her life. The child died at 10 years of age. Further deoxyribonucleic acid analysis undertaken via whole genome sequencing revealed a novel pathogenic GFER sequence variant consistent with the patient's clinical presentation.
{"title":"Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study","authors":"S. Sanchez-Marco, G. Pierre, P. Sharples, S. Love, K. Urankar, T. Hilliard, P. Lunt, A. Churchill, R. Aungraheeta, A. Dallosso, J. Evans, Maggie Williams, Anirban Majumdar","doi":"10.1055/s-0042-1749671","DOIUrl":"https://doi.org/10.1055/s-0042-1749671","url":null,"abstract":"We describe the clinical, muscle and nerve biopsy, and genetic findings in a 10-year-old girl with a profound and rapid global regression. She presented during neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory, and neck flexor muscles. She developed bilateral cataracts at 4 months of age and started to regress. Quadriceps muscle biopsy revealed extensive fiber atrophy but sparing of some, predominantly type 1, fibers. Sural nerve biopsy showed depletion of myelinated and unmyelinated fibers; most remaining myelinated fibers were of small caliber. Neuroimaging revealed global brain atrophy. Although the investigations indicated a multisystem disorder, extensive genetic and metabolic investigations were negative. She was tracheostomy- and ventilator-dependent for most of her life. The child died at 10 years of age. Further deoxyribonucleic acid analysis undertaken via whole genome sequencing revealed a novel pathogenic GFER sequence variant consistent with the patient's clinical presentation.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"5 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89268194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
João Victor Jacomele Caldas, A. Moron, D. Pares, S. Cavalheiro, I. Suriano, E. Araújo Júnior
Abstract Occipital encephalocele is a rare neural tube defect characterized by an opening in the occipital bone, resulting in herniation of meninges and brain tissue. Current treatment consists of surgical repair in the postnatal period. The main objective of intrauterine surgery for encephalocele is to decrease/stop the progression of the brain herniation and reversal of microcephaly, contributing to better perinatal outcomes. We reported the first experience of a fetal open surgery for occipital encephalocele in a Brazilian Public Health Service. The surgery took place with gestational age of 27 + 2 weeks of pregnancy. Careful dissection was performed between the skin and the dura that herniated through the bone defect, and the redundant tissue was removed and the dura was opened for access to neural tissue. Cesarean section was indicated prematurely at 34 + 4 weeks due to significant thinning of the myometrial wall with risk of uterine rupture. The newborn was discharged from the neonatal intensive care unit at 21 days after delivery and from the hospital at 30 days in good conditions. Fetal open surgery for encephalocele is still an experimental therapy with maternal–fetal risks; however, the postnatal follow-up is critical for the assessment of the real benefits of this surgery.
{"title":"Fetal Open Surgery for Occipital Encephalocele: First Experience in a Tertiary Public Hospital in Brazil","authors":"João Victor Jacomele Caldas, A. Moron, D. Pares, S. Cavalheiro, I. Suriano, E. Araújo Júnior","doi":"10.1055/s-0042-1758472","DOIUrl":"https://doi.org/10.1055/s-0042-1758472","url":null,"abstract":"Abstract Occipital encephalocele is a rare neural tube defect characterized by an opening in the occipital bone, resulting in herniation of meninges and brain tissue. Current treatment consists of surgical repair in the postnatal period. The main objective of intrauterine surgery for encephalocele is to decrease/stop the progression of the brain herniation and reversal of microcephaly, contributing to better perinatal outcomes. We reported the first experience of a fetal open surgery for occipital encephalocele in a Brazilian Public Health Service. The surgery took place with gestational age of 27 + 2 weeks of pregnancy. Careful dissection was performed between the skin and the dura that herniated through the bone defect, and the redundant tissue was removed and the dura was opened for access to neural tissue. Cesarean section was indicated prematurely at 34 + 4 weeks due to significant thinning of the myometrial wall with risk of uterine rupture. The newborn was discharged from the neonatal intensive care unit at 21 days after delivery and from the hospital at 30 days in good conditions. Fetal open surgery for encephalocele is still an experimental therapy with maternal–fetal risks; however, the postnatal follow-up is critical for the assessment of the real benefits of this surgery.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"48 1","pages":"132 - 135"},"PeriodicalIF":0.2,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75778252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Jain, Chinmaya Kumar Behera, S. Panda, S. Patnaik, Bandya Sahoo, Reshmi Mishra, J. Behera
Abstract Metronidazole-induced encephalopathy is a rare cause of toxic encephalopathy in children. Although many cases have been reported in adults, it is rarely reported in the pediatric population. Here, we report a case of an 11-year-old boy who presented with acute-onset encephalopathy with slurring of speech after receiving metronidazole for treatment of acute gastroenteritis. Neuroimaging is the cornerstone in the diagnosis of this entity with typical involvement of cerebellum, brain stem, and splenium of the corpus callosum. In our case, magnetic resonance imaging of the brain revealed hyperintensity of the splenium of the corpus callosum on the fluid-attenuated inversion recovery sequence along with diffusion restriction in the diffusion-weighted imaging and apparent diffusion coefficient images. Rapid complete neurological and radiological recovery with supportive treatment is key in making the diagnosis. Although a safer and commonly used drug, new-onset encephalopathy after the use of metronidazole must be considered.
{"title":"A Rare Case of Encephalopathy in Children—Known but Unknown","authors":"M. Jain, Chinmaya Kumar Behera, S. Panda, S. Patnaik, Bandya Sahoo, Reshmi Mishra, J. Behera","doi":"10.1055/s-0042-1757623","DOIUrl":"https://doi.org/10.1055/s-0042-1757623","url":null,"abstract":"Abstract Metronidazole-induced encephalopathy is a rare cause of toxic encephalopathy in children. Although many cases have been reported in adults, it is rarely reported in the pediatric population. Here, we report a case of an 11-year-old boy who presented with acute-onset encephalopathy with slurring of speech after receiving metronidazole for treatment of acute gastroenteritis. Neuroimaging is the cornerstone in the diagnosis of this entity with typical involvement of cerebellum, brain stem, and splenium of the corpus callosum. In our case, magnetic resonance imaging of the brain revealed hyperintensity of the splenium of the corpus callosum on the fluid-attenuated inversion recovery sequence along with diffusion restriction in the diffusion-weighted imaging and apparent diffusion coefficient images. Rapid complete neurological and radiological recovery with supportive treatment is key in making the diagnosis. Although a safer and commonly used drug, new-onset encephalopathy after the use of metronidazole must be considered.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"22 1","pages":"391 - 394"},"PeriodicalIF":0.2,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90869560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Akshata Huddar, P. Govindaraj, Shwetha Chiplunkar, M. Nagappa, A. Taly, B. P. Sankaran
A 2-year-old boy, born at term to healthy unrelated parents after an uncomplicated pregnancy, presented with recurrent daily episodes of dystonia (3-4/day)since 1-and-half years of age. Episodes consisted of generalized dystonia precipitated by fever, walking or other minor motor activity, occurring multiple times per day, lasting for about 30 to 60minutes, without any diurnal variation. The patient had normal development. Neurological examination in between the episodes revealed normal cranial nerves, power, tone
{"title":"Paroxysmal Dystonia in a Child with Enoyl-CoA Hydratase Short-Chain 1 ( ECHS1 ) Mutations","authors":"Akshata Huddar, P. Govindaraj, Shwetha Chiplunkar, M. Nagappa, A. Taly, B. P. Sankaran","doi":"10.1055/s-0042-1758470","DOIUrl":"https://doi.org/10.1055/s-0042-1758470","url":null,"abstract":"A 2-year-old boy, born at term to healthy unrelated parents after an uncomplicated pregnancy, presented with recurrent daily episodes of dystonia (3-4/day)since 1-and-half years of age. Episodes consisted of generalized dystonia precipitated by fever, walking or other minor motor activity, occurring multiple times per day, lasting for about 30 to 60minutes, without any diurnal variation. The patient had normal development. Neurological examination in between the episodes revealed normal cranial nerves, power, tone","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"48 1","pages":"408 - 410"},"PeriodicalIF":0.2,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83860694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bryan C. Vargas, María Verónica de la Maza, Joaquín Aracena
Abstract A 17-year-old boy was admitted to our hospital with history of headache, nausea, and visual field disturbances for about a year. A suprasellar tumor was found by computed tomography and magnetic resonance imaging. Biopsy of this lesion showed primary intracranial choriocarcinoma on histopathological examination. The human chorionic gonadotropin (hCG) level was measured in serum and cerebrospinal fluid after the biopsy, and was elevated in both. The patient went into chemotherapy and surgery with no complications or recurrence. If young patients present with a suprasellar lobulated mass with hemorrhage, the serum hCG level should be measured before surgery.
{"title":"Primary Intracranial Choriocarcinoma in the Suprasellar Region: A Case Report","authors":"Bryan C. Vargas, María Verónica de la Maza, Joaquín Aracena","doi":"10.1055/s-0042-1756446","DOIUrl":"https://doi.org/10.1055/s-0042-1756446","url":null,"abstract":"Abstract A 17-year-old boy was admitted to our hospital with history of headache, nausea, and visual field disturbances for about a year. A suprasellar tumor was found by computed tomography and magnetic resonance imaging. Biopsy of this lesion showed primary intracranial choriocarcinoma on histopathological examination. The human chorionic gonadotropin (hCG) level was measured in serum and cerebrospinal fluid after the biopsy, and was elevated in both. The patient went into chemotherapy and surgery with no complications or recurrence. If young patients present with a suprasellar lobulated mass with hemorrhage, the serum hCG level should be measured before surgery.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"103 1","pages":"128 - 131"},"PeriodicalIF":0.2,"publicationDate":"2022-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85171661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Coronavirus disease 2019 (COVID-19) results from infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Typical presentations include fever, shortness of breath, and cough though neurological manifestations have been rarely reported. Acute necrotizing encephalitis is a rare manifestation of COVID-19 and can be associated with devastating neurological outcomes. Difficulty in timely acquisition of neuroimaging and high rates of early mortality in these patients hinder timely diagnosis. In this clinicoradiological syndrome, patients suffer from rapidly worsening encephalopathy in first 2 weeks of illness and necrotizing parenchymal changes on neuroimaging. The pathophysiology is hypothesized to occur due to cytokine storm, blood–brain-barrier dysfunction, and viral-mediated immune dysregulation leading to endotheliopathy. Early immunomodulatory treatment with intravenous immunoglobulin and steroids is associated with a favorable outcome. Here, we report a one-and-half-year-old boy who presented with fever, seizures, and decreased activity since 3 days. He was noted to have hypertonia in all four limbs with exaggerated deep tendon reflexes. Nasopharyngeal reverse transcriptase polymerase chain reaction test for SARS-CoV-2 was positive. Magnetic resonance imaging brain was suggestive of acute necrotizing encephalopathy. Patient was treated with steroids.
{"title":"A Case of Acute Necrotizing Encephalitis Following Coronavirus Disease 2019 Infection—A Rare Presentation","authors":"Kushagra Singh, Sham Lohiya, Shubhangi Ganvir, Sachin Damke","doi":"10.1055/s-0042-1756718","DOIUrl":"https://doi.org/10.1055/s-0042-1756718","url":null,"abstract":"Abstract Coronavirus disease 2019 (COVID-19) results from infection by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Typical presentations include fever, shortness of breath, and cough though neurological manifestations have been rarely reported. Acute necrotizing encephalitis is a rare manifestation of COVID-19 and can be associated with devastating neurological outcomes. Difficulty in timely acquisition of neuroimaging and high rates of early mortality in these patients hinder timely diagnosis. In this clinicoradiological syndrome, patients suffer from rapidly worsening encephalopathy in first 2 weeks of illness and necrotizing parenchymal changes on neuroimaging. The pathophysiology is hypothesized to occur due to cytokine storm, blood–brain-barrier dysfunction, and viral-mediated immune dysregulation leading to endotheliopathy. Early immunomodulatory treatment with intravenous immunoglobulin and steroids is associated with a favorable outcome. Here, we report a one-and-half-year-old boy who presented with fever, seizures, and decreased activity since 3 days. He was noted to have hypertonia in all four limbs with exaggerated deep tendon reflexes. Nasopharyngeal reverse transcriptase polymerase chain reaction test for SARS-CoV-2 was positive. Magnetic resonance imaging brain was suggestive of acute necrotizing encephalopathy. Patient was treated with steroids.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"47 1","pages":"388 - 390"},"PeriodicalIF":0.2,"publicationDate":"2022-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81107182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Suman Das, B. Ray, Gobinda Mondal, D. Paul, K. Chatterjee, Lopamudra Mishra
Abstract Objective Our objective was to describe the clinicodemographic, laboratory, and outcome profiles of a rare phenotype of pediatric acute encephalitis syndrome (AES) with acute fulminant cerebral edema (AFCE) and compare them with that of AES without AFCE. Methods We retrospectively analyzed medical records of a cluster of children hospitalized with encephalitis between June 1, 2021 and December 31, 2021. Their clinical and demographic features, laboratory investigations (hematological, biochemical, serological, microbiological, radiological, and electrophysiological tests), and follow-up data up to 3 months postdischarge were recorded. Patients with AFCE and those without it were divided into groups A and B, respectively, and their characteristics were compared. Results There were 11 and 15 patients in groups A and B, respectively. There were no significant differences between the two groups in terms of sex, neurological status at admission, hematological and cerebrospinal fluid values, pediatric intensive care unit (PICU) course, and management, etiological identification, and mortality and disabilities at discharge. Patients having reversal or having white cerebellar signs did not significantly differ in their outcomes. However, the patients in group A had significantly lower age, higher incidence of abnormal findings on head computed tomography scans at admission, longer duration of hospitalization, and neurological sequelae at 3 months. The numbers of patients with identified etiologies were zero in group A but five in group B (two Japanese encephalitis, two scrub typhus, and one dengue). Patients of group A had bilateral asymmetric temporal-parieto-occipital T2 hyperintense lesions in magnetic resonance imaging, whereas patients of group B had bifrontal predominant or thalamo-mesencephalic lesions. Multifocal epileptiform discharges were seen in electroencephalogram in both groups, which reverted to normal in 9 and 46% in groups A and B at 3 months, respectively. Conclusion Younger age is a significant risk factor for the development of AFCE in pediatric AES. AFCE patients have worse outcomes at 3 months, although they do not significantly differ from their non-AFCE counterparts at discharge. When occurring in clusters, AFCE patients exhibit the same radiological and electroencephalographic features.
{"title":"The Clinical, Radiological, and Electrophysiological Profile of Children Presenting with Acute Fulminant Cerebral Edema Due to Suspected Encephalitis in an Eastern Indian Tertiary Care Center","authors":"Suman Das, B. Ray, Gobinda Mondal, D. Paul, K. Chatterjee, Lopamudra Mishra","doi":"10.1055/s-0042-1757166","DOIUrl":"https://doi.org/10.1055/s-0042-1757166","url":null,"abstract":"Abstract Objective Our objective was to describe the clinicodemographic, laboratory, and outcome profiles of a rare phenotype of pediatric acute encephalitis syndrome (AES) with acute fulminant cerebral edema (AFCE) and compare them with that of AES without AFCE. Methods We retrospectively analyzed medical records of a cluster of children hospitalized with encephalitis between June 1, 2021 and December 31, 2021. Their clinical and demographic features, laboratory investigations (hematological, biochemical, serological, microbiological, radiological, and electrophysiological tests), and follow-up data up to 3 months postdischarge were recorded. Patients with AFCE and those without it were divided into groups A and B, respectively, and their characteristics were compared. Results There were 11 and 15 patients in groups A and B, respectively. There were no significant differences between the two groups in terms of sex, neurological status at admission, hematological and cerebrospinal fluid values, pediatric intensive care unit (PICU) course, and management, etiological identification, and mortality and disabilities at discharge. Patients having reversal or having white cerebellar signs did not significantly differ in their outcomes. However, the patients in group A had significantly lower age, higher incidence of abnormal findings on head computed tomography scans at admission, longer duration of hospitalization, and neurological sequelae at 3 months. The numbers of patients with identified etiologies were zero in group A but five in group B (two Japanese encephalitis, two scrub typhus, and one dengue). Patients of group A had bilateral asymmetric temporal-parieto-occipital T2 hyperintense lesions in magnetic resonance imaging, whereas patients of group B had bifrontal predominant or thalamo-mesencephalic lesions. Multifocal epileptiform discharges were seen in electroencephalogram in both groups, which reverted to normal in 9 and 46% in groups A and B at 3 months, respectively. Conclusion Younger age is a significant risk factor for the development of AFCE in pediatric AES. AFCE patients have worse outcomes at 3 months, although they do not significantly differ from their non-AFCE counterparts at discharge. When occurring in clusters, AFCE patients exhibit the same radiological and electroencephalographic features.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"35 1","pages":"085 - 094"},"PeriodicalIF":0.2,"publicationDate":"2022-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77663766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shivangi Puri, R. K. Agrawal, Ankur Singh, A. Verma, Arpita Mishra, Ashutosh Kumar Singh, R. Narayan, O. Mishra
Abstract Neurodegeneration with brain iron accumulation consists of disorders characterized by progressive neuronal degeneration, cognitive decline, brain iron accumulation in extrapyramidal system, dentate nucleus, and gray and white matters boundary. We present a case series of PLA2G6 -associated neurodegeneration ( PLAN ), with definite PLA2G6 gene mutations in two cases and suspected in one case. Diagnosis was based on clinical presentations, brain magnetic resonance imaging (MRI) findings, and detection of PLA2G6 mutations. Case 1 : An 8-year-old boy presented with weakness of lower limbs, subnormal intelligence, scanning speech, spasticity, dysdiadochokinesia, pendular knee jerk, and extensor plantar reflex. MRI of the brain showed diffuse cerebellar atrophy and white matter T2 hyperintensity with iron deposition in bilateral globus pallidi. Case 2 : Elder sister of Case 1, who developed ataxia at the age of 6 years and became bedridden at 14 years. She had nocturnal enuresis, seizures, cervical dystonia, dysphagia, and died at 23 years of age. MRI showed cerebral and cerebellar atrophies and iron deposition in basal ganglia and substantia nigra. Case 3 had infantile onset with quadriparesis, optic atrophy, developmental delay, cerebral and cerebellar atrophies, and brain iron accumulation in basal ganglia. Case 1 revealed two heterozygous mutations of PLA2G6 gene in exons 16 (c.2264G > A, p. Arg755Gln) and 12 (c.1637G > A, p. Arg546Gln), classified as likely pathogenic. Elder sister (Case 2) could not be tested for this mutation. Case 3 showed homozygous silent splice site point variation in exon 7 (c.1077 G > A; p. Ser 359 Ser) of PLA2G6 gene. Thus, in patients presenting with neurodegeneration and imaging findings of brain iron accumulation, diagnosis can be established by PLA2G6 gene mutation analysis.
神经变性伴脑铁积累是一种以进行性神经元变性、认知能力下降、锥体外系统、齿状核、灰质和白质边界等脑铁积累为特征的疾病。我们提出了PLA2G6相关神经退行性变(PLAN)的病例系列，其中2例明确PLA2G6基因突变，1例疑似PLA2G6基因突变。诊断基于临床表现、脑磁共振成像(MRI)结果和PLA2G6突变检测。病例1:一名8岁男孩，表现为下肢无力、智力低下、扫描性言语、痉挛、运动障碍、垂膝抽搐和足底伸肌反射。脑MRI示弥漫性小脑萎缩，双侧苍白球白质T2高信号伴铁沉积。病例2:病例1的姐姐，6岁时出现共济失调，14岁卧床不起。她有夜间遗尿、癫痫、宫颈肌张力障碍、吞咽困难，死于23岁。MRI显示大脑和小脑萎缩，基底节和黑质铁沉积。病例3为婴儿起病，四肢瘫，视神经萎缩，发育迟缓，脑和小脑萎缩，基底节区脑铁积累。病例1显示PLA2G6基因外显子16 (c.2264G > A, p. Arg755Gln)和12 (c.1637G > A, p. Arg546Gln)两个杂合突变，分类为可能致病。姐姐(病例2)无法检测这种突变。病例3显示外显子7纯合沉默剪接位点位点变异(c.1077)g > a;p. Ser 359 Ser) PLA2G6基因。因此，当患者表现为神经退行性疾病，影像学表现为脑铁积累时，可通过PLA2G6基因突变分析进行诊断。
{"title":"Spectrum of Neurodegeneration with Brain Iron Accumulation with PLA2G6 Variation: A Report of Three Cases from Two Families","authors":"Shivangi Puri, R. K. Agrawal, Ankur Singh, A. Verma, Arpita Mishra, Ashutosh Kumar Singh, R. Narayan, O. Mishra","doi":"10.1055/s-0042-1758454","DOIUrl":"https://doi.org/10.1055/s-0042-1758454","url":null,"abstract":"Abstract Neurodegeneration with brain iron accumulation consists of disorders characterized by progressive neuronal degeneration, cognitive decline, brain iron accumulation in extrapyramidal system, dentate nucleus, and gray and white matters boundary. We present a case series of PLA2G6 -associated neurodegeneration ( PLAN ), with definite PLA2G6 gene mutations in two cases and suspected in one case. Diagnosis was based on clinical presentations, brain magnetic resonance imaging (MRI) findings, and detection of PLA2G6 mutations. Case 1 : An 8-year-old boy presented with weakness of lower limbs, subnormal intelligence, scanning speech, spasticity, dysdiadochokinesia, pendular knee jerk, and extensor plantar reflex. MRI of the brain showed diffuse cerebellar atrophy and white matter T2 hyperintensity with iron deposition in bilateral globus pallidi. Case 2 : Elder sister of Case 1, who developed ataxia at the age of 6 years and became bedridden at 14 years. She had nocturnal enuresis, seizures, cervical dystonia, dysphagia, and died at 23 years of age. MRI showed cerebral and cerebellar atrophies and iron deposition in basal ganglia and substantia nigra. Case 3 had infantile onset with quadriparesis, optic atrophy, developmental delay, cerebral and cerebellar atrophies, and brain iron accumulation in basal ganglia. Case 1 revealed two heterozygous mutations of PLA2G6 gene in exons 16 (c.2264G > A, p. Arg755Gln) and 12 (c.1637G > A, p. Arg546Gln), classified as likely pathogenic. Elder sister (Case 2) could not be tested for this mutation. Case 3 showed homozygous silent splice site point variation in exon 7 (c.1077 G > A; p. Ser 359 Ser) of PLA2G6 gene. Thus, in patients presenting with neurodegeneration and imaging findings of brain iron accumulation, diagnosis can be established by PLA2G6 gene mutation analysis.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"248 1","pages":"122 - 127"},"PeriodicalIF":0.2,"publicationDate":"2022-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82902854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
İ. Polat, S. Köse, M. Ayanoğlu, D. Okur, E. Bayram, U. Yiş, S. Asilsoy, S. Kurul
Abstract Cystic fibrosis is one of the most common inherited diseases. It presents with recurrent respiratory infections, pancreatic insufficiency, and growth retardation. Neurological involvement becomes more common as life expectancy increases. Chronic hypoxia, impaired glucose intolerance, autoimmune mechanisms, vasculitis changes, and micronutrient deficiencies seem to cause neuropathy in cystic fibrosis. This study was aimed to investigate peripheral neuropathy in pediatric cystic fibrosis patients. Twenty-one cystic fibrosis patients and 19 healthy control subjects between the ages of 7 and 17 years were included. Their nerve conduction study results and laboratory investigations were analyzed. Participants were classified into four groups; 1. Cystic fibrosis with vitamin D deficiency, 2. Cystic fibrosis with normal vitamin D levels, 3. Healthy subjects with vitamin D deficiency, 4. Healthy subjects with normal vitamin D levels. We found statistically significantly lower sensory median nerve sensorial nerve action potential, sensorial sural nerve conduction velocity, and motor peroneal nerve compound motor action potential in cystic fibrosis patients with vitamin D deficiency than in other cases. We also found that the main difference between cystic fibrosis and control groups was especially in patients with low vitamin D levels. Nerve damage starts at an early age, especially in cystic fibrosis patients especially those with vitamin D deficiency. Electrophysiological evaluation to assess neuropathy is important even in asymptomatic patients. Prevention of hypovitaminosis D is important to prevent neuropathy in cystic fibrosis patients.
{"title":"Importance of Vitamin D Status and Nerve Conduction in Pediatric Cystic Fibrosis Patients","authors":"İ. Polat, S. Köse, M. Ayanoğlu, D. Okur, E. Bayram, U. Yiş, S. Asilsoy, S. Kurul","doi":"10.1055/s-0042-1758056","DOIUrl":"https://doi.org/10.1055/s-0042-1758056","url":null,"abstract":"Abstract Cystic fibrosis is one of the most common inherited diseases. It presents with recurrent respiratory infections, pancreatic insufficiency, and growth retardation. Neurological involvement becomes more common as life expectancy increases. Chronic hypoxia, impaired glucose intolerance, autoimmune mechanisms, vasculitis changes, and micronutrient deficiencies seem to cause neuropathy in cystic fibrosis. This study was aimed to investigate peripheral neuropathy in pediatric cystic fibrosis patients. Twenty-one cystic fibrosis patients and 19 healthy control subjects between the ages of 7 and 17 years were included. Their nerve conduction study results and laboratory investigations were analyzed. Participants were classified into four groups; 1. Cystic fibrosis with vitamin D deficiency, 2. Cystic fibrosis with normal vitamin D levels, 3. Healthy subjects with vitamin D deficiency, 4. Healthy subjects with normal vitamin D levels. We found statistically significantly lower sensory median nerve sensorial nerve action potential, sensorial sural nerve conduction velocity, and motor peroneal nerve compound motor action potential in cystic fibrosis patients with vitamin D deficiency than in other cases. We also found that the main difference between cystic fibrosis and control groups was especially in patients with low vitamin D levels. Nerve damage starts at an early age, especially in cystic fibrosis patients especially those with vitamin D deficiency. Electrophysiological evaluation to assess neuropathy is important even in asymptomatic patients. Prevention of hypovitaminosis D is important to prevent neuropathy in cystic fibrosis patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"41 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75765513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shilpa D. Kulkarni, Anish Ainapure, F. Gala, Payal Shah, V. Gavali
Abstract Germ cell tumors are rare tumors and may pose a diagnostic dilemma. We present a 15-year-old boy with insidious onset right hemiparesis followed by polyuria and polydipsia. Later, he also developed cognitive decline and speech disturbances. Serial magnetic resonance images (MRIs) over a 2-year period showed progressive atrophy of the left caudate nucleus, along with Wallerian degeneration of the left internal capsule and crus of midbrain. Further in the course, imaging revealed an ill-defined signal intensity involving left ganglio-capsulo-thalamic region with increased perfusion which was suggestive of basal ganglia germinoma. Beta human chorionic gonadotropin levels were mildly elevated. This case illustrates an uncommon presentation of a central nervous system germinoma which is often misdiagnosed in the early stages because of its atypical symptomatology and MRI findings.
{"title":"Basal Ganglia Germinoma in an Adolescent: A Case Report","authors":"Shilpa D. Kulkarni, Anish Ainapure, F. Gala, Payal Shah, V. Gavali","doi":"10.1055/s-0042-1751263","DOIUrl":"https://doi.org/10.1055/s-0042-1751263","url":null,"abstract":"Abstract Germ cell tumors are rare tumors and may pose a diagnostic dilemma. We present a 15-year-old boy with insidious onset right hemiparesis followed by polyuria and polydipsia. Later, he also developed cognitive decline and speech disturbances. Serial magnetic resonance images (MRIs) over a 2-year period showed progressive atrophy of the left caudate nucleus, along with Wallerian degeneration of the left internal capsule and crus of midbrain. Further in the course, imaging revealed an ill-defined signal intensity involving left ganglio-capsulo-thalamic region with increased perfusion which was suggestive of basal ganglia germinoma. Beta human chorionic gonadotropin levels were mildly elevated. This case illustrates an uncommon presentation of a central nervous system germinoma which is often misdiagnosed in the early stages because of its atypical symptomatology and MRI findings.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":"118 - 121"},"PeriodicalIF":0.2,"publicationDate":"2022-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89526185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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