Late onset childhood occipital epilepsy-Gastaut type (LOCOE) is a rare idiopathic epilepsy syndrome with an uncertain long-term prognosis. Elementary visual hallucinations and interictal spike-and-wave complexes in the occipital areas represent the main electroclinical findings of the syndrome. The functional nature of LOCOE has been emphasized together with the presence of genetic predisposition in the affected patients. Here, we report on two families in which two patients, respectively, showed electroclinical features compatible with LOCOE. Although further studies are needed to validate our observations, the involvement of two generations in one of the families we studied may corroborate the previously formulated hypothesis of an autosomal dominant model of inheritance in LOCOE. Of course, the identification of larger families is propaedeutic to linkage analysis studies.
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http://dx.doi.org/10.1016/j.ejpn.2007.11.007 | DOI Listing |
Neurol Sci
December 2024
Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.
Case Description: Epilepsy onset occurred at 3.
Quant Imaging Med Surg
December 2024
Department of Radiology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Background: Little is known about the precise impaired patterns of white matter (WM) fiber tracts in preschool-aged children with autism spectrum disorder (ASD). Thus, we used diffusion tensor imaging (DTI)-based automated fiber quantification (AFQ) to explore the changes in WM fiber tracts in preschool-aged children with ASD and its correlation with the severity of clinical manifestations.
Methods: A total of 43 pediatric ASD and 42 age- and sex-matched typical developing children were examined with DTI.
Brain Dev
December 2024
Department of Developmental Disorders, National Institute of Mental Health, National Center of Neurology and Psychiatry (NCNP), Japan; Department of Pediatrics, Tottori Prefectural Tottori Rehabilitation Center, Japan.
Background: Childhood cerebral type of Adrenoleukodystrophy (CC-ALD) is fatal without hematopoietic stem cell transplantation (HSCT). We consider whether EEGs showing focal paroxysmal delta waves can be a candidate of early detector of the apparent ALD and HSCT therapy.
Methods: Twenty-two male children with ALD (5-16 years; 10.
Zh Vopr Neirokhir Im N N Burdenko
December 2024
Irkutsk State Medical University, Irkutsk, Russia.
Background: Giant non-traumatic and non-iatrogenic cranial vault defects are poorly studied due to their rarity. Therefore, diagnosis and analysis of their causes are difficult. In available literature, we found only 4 cases of giant pericranial sinus accompanied by extensive cranial vault defects.
View Article and Find Full Text PDFZhonghua Yi Xue Za Zhi
December 2024
Department of Child and Adolescent Psychiatry, the Second Affiliated Hospital of Xinxiang Medical University, Xinxiang Key Laboratory of Child and Adolescent Psychiatry, Xinxiang453002, China.
To analyze the relationship of gray matter volume and cortical thickness of auditory verbal hallucination in first-episode childhood-onset schizophrenia(COS). Sixty cases of first-episode childhood-onset schizophrenia who were treated in the inpatient department of the Second Affiliated Hospital of Xinxiang Medical University from October 2020 to February 2024 were collected(case group).Thirty-two healthy students from a primary and secondary school in Xinxiang city were the control group.
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