Neurodevelopmental Outcomes of Neonatal Rotavirus-Associated Leukoencephalopathy
Neuropediatrics DOI: 10.1055/s-0042-1742722Rotavirus infection has been reported to be associated with neonatal seizures with a diffuse and symmetrical diffusion restriction of periventricular white matter, namely, neonatal rotavirus-associated leukoencephalopathy. The extensive white matter injury seen in this cohort raises concerns about the long-term neurodevelopmental outcomes. In the present study, we prospectively assessed the neurodevelopmental outcomes of 13 patients with neonatal rotavirus-associated leukoencephalopathy at a median age of 26 months (range, 23–68 months). Neurodevelopmental outcomes were evaluate...
Source: Neuropediatrics - March 2, 2022 Category: Neurology Authors: Cho, Jae Young Yeom, Jung Sook Kim, Young-Soo Choi, Dae-Seob Park, Ji Sook Park, Eun Sil Seo, Ji-Hyun Lim, Jae-Young Woo, Hyang-Ok Park, Chan-Hoo Tags: Short Communication Source Type: research
Quality of Life and Its Association with Level of Functioning in Young Children with Cerebral Palsy
Conclusion Level of functioning as measured by GMFCS, Mini-MACS, EDACS, and CFCS is independent predictors of impairment in QOL in young children with CP. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 23, 2022 Category: Neurology Authors: Sharawat, Indar Kumar Panda, Prateek Kumar Tags: Original Article Source Type: research
Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1
Neuropediatrics DOI: 10.1055/s-0042-1743439Spinal muscular atrophy (SMA) is a rare neuromuscular disorder with a broad clinical spectrum. The most severe phenotype—SMA type 1—is characterized by marked muscle weakness also affecting bulbar and respiratory function. Life expectancy of children with SMA type 1 is expected to be less than 2 years without ventilator support or disease-specific drug treatment. The aim of this study was to evaluate parents' perspectives on the process of decision-making regarding ventilator support in children with SMA type 1. Fourteen semi-structured interviews were performed with parents o...
Source: Neuropediatrics - February 23, 2022 Category: Neurology Authors: Pechmann, Astrid Langer, Thorsten Kirschner, Janbernd Tags: Original Article Source Type: research
Anti-GFAP Antibody-Associated Hypertrophic Pachymeningitis
Conclusion The present study suggests that HP may be one of the clinical phenotypes for autoimmune GFAP astrocytopathy or GFAP antibody is a biomarker for HP. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 11, 2022 Category: Neurology Authors: Tan, Chengbing Zhong, Min Yao, Zhengxiong Hong, Siqi Jiang, Li Jiang, Yan Tags: Case Report Source Type: research
Menkes Disease: Clinical Presentation and Imaging Characteristics
Neuropediatrics DOI: 10.1055/a-1762-0354 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 4, 2022 Category: Neurology Authors: Means, Margaret J. Santos, Francis J. R. Sotardi, Susan T. Beslow, Lauren A. Tags: Video and Image in Neuropediatrics Source Type: research
Menkes Disease- Clinical Presentation and Imaging Characteristics
Neuropediatrics DOI: 10.1055/a-1762-0354 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents (Source: Neuropediatrics)
Source: Neuropediatrics - February 4, 2022 Category: Neurology Authors: Means, Margaret Sotardi, Susan Reynoso Santos, Jessie Beslow, Lauren Tags: Videos and Images in Neuropediatrics Source Type: research
High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection
Conclusion This study is the first to demonstrate the incidence of hippocampal abnormality to be significantly higher in congenital CMV infection patients than in age-matched controls. Further study is necessary to clarify the associations of HIMAL with other clinical and developmental features. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Natsume, Takenori Inaba, Yuji Osawa, Yoshihiro Fukuyama, Tetsuhiro Tags: Original Article Source Type: research
A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report
Conclusion This case report describes the clinical symptoms and the diagnostics of ECHS1 deficiency. It shows the importance of further metabolic and genetic testing of patients with motoric conspicuities and developmental delay. It is important to be cautious with propofol sedation of patients who present an unknown neurological disorder, when metabolic disturbance or especially mitochondriopathy is suspected. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Preusse, Matthias Paraschaki, Georgia Lutz, Soeren Tags: Short Communication Source Type: research
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency
We report a 2-year-old Turkish girl with a history of two episodes of Guillain-Barré syndrome-like acute weakness, reversible monocular abducens paralysis, and recurrent blistering skin lesions during periods of upper respiratory tract infections. Reversible monocular abducens palsy and recurrent blistering skin lesions have not been reported previously in cases of congenital CD59 deficiency. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: G üngör, Mesut Demirsoy, Evren G üneş, Ayfer Sakarya An ık, Yonca Kara, B ülent Tags: Short Communication Source Type: research
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature
Conclusion ITPA-related encephalopathy presents with infantile-onset neurodegeneration, progressive microcephaly, and epilepsy. Progressive brain atrophy and diffusion restriction in the white matter tracts are important radiological clues. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Sharma, Yashu Saini, Arushi Gahlot Kaur, Rajdeep Bhatia, Vikas Didwal, Gunjan Kumar, Pawan Uppala, Revathi Tags: Original Article Source Type: research
Psychiatric Manifestations in Patients with Biopterin Defects
Neuropediatrics DOI: 10.1055/s-0042-1742323Psychiatric manifestations in patients with tetrahydrobiopterin (BH4) defects are common, and may occur even with treatment of the underlying disorder. The neurobiological background of these conditions has been linked to abnormalities of neurotransmitters, such as dopamine, serotonin, norepinephrine, and gamma-aminobutyric acid. Here, we review the psychiatric profile of all patients with BH4 defects followed in the pediatric and adult metabolic clinics at our center. Three patients with autosomal recessive (AR) guanosine triphosphate cyclohydrolase (GTPCH) deficiency and three p...
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Parfyonov, Maksim Friedlander, Robin Banno, Brian Elbe, Dean Horvath, Gabriella Tags: Original Article Source Type: research
The Enigma of Childhood Predisposition in Enteroviral Infections
Neuropediatrics DOI: 10.1055/s-0042-1742306 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Madaan, Priyanka Saini, Lokesh Tags: Letter to the Editor Source Type: research
Vascular architecture characters and changes of pediatric moyamoya disease after combined bypass surgery
Conclusions The successful CBS could decrease the collaterals from PCA-MCA leptomeningeal system and the subependymal compensations in deep parenchyma significantly, while the main trunk stenosis would aggravate rapidly both in operative and non-operative hemisphere in short term after unilateral CBS. Therefore, strict and regular follow-up for the changes of vascular architecture and prompt surgical intervention for contralateral side might of benefit to pediatric MMD. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract (Source: Neuropediatrics)
Source: Neuropediatrics - January 27, 2022 Category: Neurology Authors: Ma, Yan Lu, Xia Zeng, Gao Yang, Bin Jiao, Liqun Ling, Feng Tags: Original Article Source Type: research
Outcome Analysis of Severe Hyperbilirubinemia in Neonates Undergoing Exchange Transfusion
Conclusion Peak TSB and sepsis were associated with poor outcomes in infants with severe hyperbilirubinemia, and peak TSB ≥452.9 µmol/L could predict poor outcomes. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - January 17, 2022 Category: Neurology Authors: Zhang, Ruili Kang, Wenqing Zhang, Xiaoli Shi, Lina Li, Rui Zhao, Yanmei Zhang, Jing Yuan, Xiao Liu, Shasha Li, Wenhua Xu, Falin Cheng, Xiuyong Zhu, Changlian Tags: Original Article Source Type: research
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
We describe for the first time an elongated peroxisome morphology in a patient with PEX10-related cerebellar ataxia.A literature search yielded 14 similar patients from nine families with PEX10-related cerebellar ataxia, most of them presenting their first symptoms between 3 and 8 years of age. In 11/14 patients, the first and main symptom was cerebellar ataxia; in three patients, it was sensorineural hearing impairment. Finally, all 14 patients developed ataxia. Polyneuropathy (9/14) and cognitive impairment (9/14) were common associated findings. In 12/13 patients brain MRI showed cerebellar atrophy. Phytanic acid was el...
Source: Neuropediatrics - January 17, 2022 Category: Neurology Authors: Nava, Esmeralda Hartmann, Britta Boxheimer, Larissa Capone Mori, Andrea Nuoffer, Jean-Marc Sargsyan, Yelena Thoms, Sven Rosewich, Hendrik Boltshauser, Eugen Tags: Original Article Source Type: research
