Neuropediatric

UNLABELLED: Paediatric acquired demyelinating syndrome(ADS) constitute group of treatable disorders with acute neurologic dysfunction. Neuroimaging has played significant role in diagnosis of ADS. We describe clinico-radiologic spectrum, outcome and compare the groups Acute disseminated encephalomyelitis (ADEM), Neuromyelitis-optica-spectrum disorder (NMOSD), clinically-isolated-syndrome (CIS), Multiple sclerosis (MS) and Myelin-oligodendrocyte-glycoprotein antibody associated disorders (MOGAD)...

BACKGROUND: Pediatric-onset inflammatory brain diseases are a group of potentially life-threatening central nervous system disorders. Overall, pediatric-onset inflammatory brain diseases are rare and therefore difficult to study. Patient registries are well suited to study the natural history of (rare) diseases and have markedly advanced the knowledge on pediatric-onset inflammatory brain diseases in other countries. Following their example, we established a national pediatric-onset inflammatory brain disease registry in Switzerland (Swiss-Ped-IBrainD)...

No abstract text is available yet for this article.

INTRODUCTION: Epileptic spasms without hypsarrhythmia occur when patients do not display hypsarrhythmia on EEG at the onset and throughout the clinical course. We report three patients of epileptic spasms in patients with early onset, all of whom experienced other types of seizures. CASE REPORTS: We detail three patients (two boys and one girl) of epileptic spasms without hypsarrhythmia, occurring between one and three months of age, with no abnormalities detected on neurometabolic analysis and brain MRI...

The Department of Hematology-Immunology, headed by Professor Jean-Hugues Dalle, is the leading department in France for the care of patients receiving pediatric hematopoietic stem cell transplants. Since 2018, it has been a "major player" in the development of innovative treatments, such as gene therapy. To date, it is the only care service in France, which offers this treatment to stop the neurodegenerative progression of two genetic diseases, in collaboration with the neuropediatric service of the Kremlin-Bicêtre hospital headed by Prof Kumaran Deiva, in conjunction with the national reference center for rare disaeses didicated to leucodystrophies...

No abstract text is available yet for this article.

In patients with neurodevelopmental disorders (NDDs), exome sequencing (ES), the diagnostic gold standard, reveals an underlying monogenic condition in only approximately 40% of cases. We report the case of a female patient with profound NDD who died 30 years ago at the age of 3 years and for whom genome sequencing (GS) now identified a single-exon deletion in TBCK previously missed by ExomeDepth, the copy number variation (CNV) detection algorithm in ES.Deoxyribonucleic acid (DNA) was extracted from frozen muscle tissue of the index patient and the parents' blood...

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia...

No abstract text is available yet for this article.

BACKGROUND: The Pediatric Quality of Life InventoryTM Neuromuscular Module (PedsQLTM 3.0 NM) evaluates the health-related quality of life in children who are affected by neuromuscular diseases. This study's aim is to assess the adaptation of the PedsQLTM 3.0 NM Turkish version (PedsQLTM 3.0 NM-TR) for 2-4 years old in spinal muscular atrophy (SMA). METHODS: The procedure of translating the PedsQLTM 3.0 NM into Turkish was conducted in accordance with the translation methodology outlined by the PedsQLTM measurement model...

Background: The Balance Error Scoring System (BESS) is a commonly used method for clinically evaluating balance after traumatic brain injury. The utilization of force plates, characterized by their cost-effectiveness and portability, facilitates the integration of instrumentation into the BESS protocol. Despite the enhanced precision associated with instrumented measures, there remains a need to determine the clinical significance and feasibility of such measures within pediatric cohorts. Objective: To report a comprehensive set of posturographic measures obtained during instrumented BESS and to examine the concurrent validity, reliability, and feasibility of instrumented BESS in the pediatric point of care setting...

Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often discovered incidentally during anatomical or radiological examinations and in most cases left untreated unless symptoms develop...

Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders...

This data analysis aimed to systematically analyze a pediatric patient population with a life-limiting disease who were administered cannabinoids. It was a retrospective single-center analysis of patients under supervision of the specialized outpatient pediatric palliative care (SOPPC) team at the Department of Pediatrics and Adolescent Medicine of the Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU). Thirty-one patients with a primary diagnosis of neuropediatric, oncologic, metabolic, and cardiologic categories were included...

Congenital Myopathy type 13, also known as Native American Myopathy (NAM), is a rare muscle disease characterized by early-onset hypotonia, muscle weakness, delayed motor milestones, and susceptibility to malignant hyperthermia. The phenotypic spectrum of Congenital Myopathy type 13 is expanding, with milder forms reported in non-native American patients. The first description of the disease dates to 1987 when Bailey and Block described an infant belonging to a Native American tribe with cleft palate, micrognathia, arthrogryposis, and general-anesthesia-induced malignant hyperthermia reaction; the cause of the latter remains poorly defined in this rare disease...

PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2 -mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.We present the clinical, neuroradiological, and genetic characterization of a Caucasian pediatric subject with biallelic pathogenic variants in the PGAP2 gene revealed by next generation sequencing analysis...

STAC3-related myopathy, or Native American myopathy (NAM), is a genetically inherited, autosomal recessive muscle disease that was first described in a Native American by Bailey and Bloch in 1987. NAM is characterized by hypotonia, micrognathia, muscle weakness, arthrogryposis, cleft palate, susceptibility to malignant hyperthermia (MH), and myopathic facies. Since the first description of NAM, more cases have been described worldwide, with three cases reported from the Middle East. This study presents a cohort of seven Saudi NAM patients belonging to three families...

ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant...

Biallelic variants in PTRHD1 have been associated with autosomal recessive intellectual disability, spasticity, and juvenile Parkinsonism, with few reported cases. Here, we present the clinical and genetic findings of a female of Austrian origin exhibiting infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, consistent with the established phenotypic spectrum. Notably, she developed genetic generalized epilepsy at age 4, persisting into adulthood. Using diagnostic exome sequencing, we identified a homozygous missense variant (c...

BACKGROUND:  Magnetic resonance imaging in fetal alcohol spectrum disorder (FASD) children showed altered connectivity, suggesting underlying deficits in networks, which may be related to cognitive outcome. Functional connectivity has been of interest in neurophysiological research with quantitative electroencephalography (QEEG) as useful tool for measuring pathology, not detectable by normal EEG. The aim of this study was to investigate differences in the EEG interhemispheric coherence (ICoh) in children diagnosed with FASD compared with healthy controls and to relate the results to cognitive scores...