SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy
We report an in-depth genetic analysis in an 11-year-old boy with drug-resistant, generalized seizures and developmental disability. Three distinct variants of unknown clinical significance (VUS) were detected by whole exome sequencing (WES) but not by initial genetic analyses (microarray and epilepsy gene panel). These variants involve the SLC7A3, CACNA1H, and IGLON5 genes, which were subsequently evaluated by computational analyses using the InterVar tool and MutationTaster. While future functional studies are necessary to prove the pathogenicity of a certain VUS, segregation analyses over three generations and in silico...
Source: Neuropediatrics - December 6, 2021 Category: Neurology Authors: Sourbron, Jo Jansen, Katrien Mei, Davide Hammer, Trine Bj ørg M øller, Rikke S. Gold, Nina B. O'Grady, Lauren Guerrini, Renzo Lagae, Lieven Tags: Original Article Source Type: research
“Weak with Laughter”—Cataplexy as a Hint for Early Diagnosis of Niemann–Pick Type C?
Neuropediatrics DOI: 10.1055/s-0041-1733982 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Leppmeier, Verena Veit, Sybille Demund, Simone Makowski, Christine Kluger, Gerhard Tags: Videos and Images in Neuropediatrics Source Type: research
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease
Neuropediatrics DOI: 10.1055/s-0041-1739135Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Rubino, Alfonso Bruno, Giorgia Mazio, Federica de Leva, Maria Fulvia Ruggiero, Lucia Santorelli, Filippo Maria Varone, Antonio Tags: Short Communication Source Type: research
Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau –Kleffner Syndrome
Neuropediatrics DOI: 10.1055/s-0041-1733983Landau–Kleffner syndrome (LKS) is a rare neurological disorder characterized by acquired aphasia. LKS presents with distinctive electroencephalography (EEG) findings, including diffuse continuous spike and wave complexes (CSW), particularly during sleep. There has been little research on the mechanisms of aphasia and its origin within the brain and how it recovers. We diagnosed LKS in a 4-year-old female with an epileptogenic zone located primarily in the right superior temporal gyrus or STG (nondominant side). In the course of her illness, she had early signs of motor aphasia r...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Kawai, Michiko Abe, Yuichi Yumoto, Masato Kubota, Masaya Tags: Short Communication Source Type: research
Moyamoya Syndrome in an Infant with Aicardi –Goutières and Williams Syndromes: A Case Report
We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with “ivy sign,” suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrov...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Brar, Jagraj S. Verma, Rahul Al-Omari, Mohammed Siu, Victoria M. Andrade, Andrea V. Jurkiewicz, Michael T. Lalgudi Ganesan, Saptharishi Tags: Short Communication Source Type: research
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review
Neuropediatrics DOI: 10.1055/s-0041-1739132Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Cordani, Ramona Pisciotta, Livia Mancardi, Maria Margherita Stagnaro, Michela Prato, Giulia Giacomini, Thea Morana, Giovanni Walsh, Peter Ghia, Twinkle Nobili, Lino De Grandis, Elisa Tags: Resident and Fellow Section: Short Communication Source Type: research
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Neuropediatrics DOI: 10.1055/s-0041-1735250Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) ha...
Source: Neuropediatrics - December 1, 2021 Category: Neurology Authors: Holzwarth, Johanna Minopoli, Nadja Pfrimmer, Charlotte Smitka, Martin Borrel, Sabine Kirschner, Janbernd Muschol, Nicole Hartmann, Hans Hennermann, Julia B. Neubauer, Bernd A. Hobbiebrunken, Elke Husain, Ralf Hahn, Andreas Tags: Original Article Source Type: research
Favorable Response to “Memantine” in a Child with GRIN2B Epileptic Encephalopathy
Neuropediatrics DOI: 10.1055/s-0041-1739130
GRIN2B is a gene encoding GluN2B subunit under the family of N-methyl D-aspartate (NMDA) receptors, which is responsible for neurogenesis and cognitive processes. The role of NMDA receptor antagonists like memantine is being explored for therapies in drug-resistant epilepsies. Here, we present a case of a 20-month-old boy who presented with refractory epileptic spasms. Upon failure of multiple antiepileptic drugs, he was started on oral memantine. There was a significant reduction in average seizure episodes by ∼80%. The use of memantine along with antiepileptic drug polyt...
Source: Neuropediatrics - November 29, 2021 Category: Neurology Authors: Chidambaram, Sathya Manokaran, Ranjith Kumar Tags: Short Communication Source Type: research
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder
We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified. [...] Georg Thieme Verlag KG R...
Source: Neuropediatrics - November 29, 2021 Category: Neurology Authors: Alfei, Enrico Cattaneo, Elisa Spaccini, Luigina Iascone, Maria Veggiotti, Pierangelo Doneda, Chiara Tags: Short Communication Source Type: research
46th Annual Conference of the German Neuropediatric Society (GNP) and 17th GNP Training Course Academy
Neuropediatrics 2021; 52: e1-e2 DOI: 10.1055/s-0041-1739287 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 28, 2021 Category: Neurology Authors: Haberlandt, Edda Tags: Editorial Source Type: research
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Neuropediatrics 2021; S 01 Article in Thieme eJournals: Table of contents | Congress (Source: Neuropediatrics)
Source: Neuropediatrics - October 28, 2021 Category: Neurology Source Type: research
Crossed Cerebellar Diaschisis in EEG Negative Epilepsia Partialis Continua
Neuropediatrics DOI: 10.1055/s-0041-1736180 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 21, 2021 Category: Neurology Authors: Larsh, Travis Parikh, Sumit Tags: Videos and Images in Neuropediatrics Source Type: research
Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome
We report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance imaging (MRI) showed a “molar tooth” configuration of the brainstem. A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover the interpeduncular fossa.DTI maps and three-dimensional (3D) tractography demonstrated a prominent red-encoded white matter bundle anterior to the midbrain. Probable abe...
Source: Neuropediatrics - October 21, 2021 Category: Neurology Authors: Meoded, Avner Kukreja, Marcia Orman, Gunes Boltshauser, Eugen Huisman, Thierry A.G.M. Tags: Short Communication Source Type: research
Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation
Conclusion Genotype-phenotype dissociation could be noted in patients with MoCoD due to MOCS2 mutation. Patients with neonatal seizures, developmental delay, movement disorder, and motor regression after an illness, as well as focal or bilateral involvement of the globus pallidi on the neuroimages, should undergo biochemical testing of plasma uric acid. A pronounced plasma uric acid level is a good indicator of MoCoD. Early diagnosis can allow early provision of adequate genetic counseling. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abst...
Source: Neuropediatrics - October 21, 2021 Category: Neurology Authors: Lee, Hsiu-Fen Hsu, Chia-Chi Chi, Ching-Shiang Tsai, Chi-Ren Tags: Short Communication Source Type: research
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome
In conclusion, we reported two siblings with variable phenotypes of Glut1 DS with a novel nonsense mutation. Although sleep disorder and daytime somnolence were the nonclassical manifestations of Glut1 DS, the diagnostic evaluation of possible Glut1 DS in patients presented with daytime sleepiness, particularly in cases with the cooccurrence of seizures or movement disorders should be considered. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 21, 2021 Category: Neurology Authors: Anurat, Kingthong Khongkhatithum, Chaiyos Tim-Aroon, Thipwimol Limwongse, Chanin Thampratankul, Lunliya Tags: Short Communication Source Type: research
