Objective: This study aims to discuss the differential diagnosis for the pathological alterations displayed on an infant skeleton from Romania.
Materials: One infant skeleton retrieved form the bathhouse of an abandoned Roman fort and dated between the 2nd and the 4th centuries AD.
Methods: All available skeletal elements were analyzed macroscopically. In addition, the isotopic signatures (δC and δ1N) and the control region of the human mitochondrial genome for this archaeological sample were analyzed.
Results: Based on dental development and long bone length, the skeleton was aged between birth and 2 months of age. Pathological lesions were noted on the mandible and diaphyses of long bones, but spared the metaphyses.
Conclusions: The perinatal age of the individual, along with lesion morphology and location, suggests a diagnosis of infantile cortical hyperostosis.
Limitations: The analysis would benefit from further stable isotope and mitochondrial genome analyses, which was limited due to the absence of comparative human and faunal remains from the site.
Suggestions For Further Research: Further multidisciplinary research on human archaeological remains from Romania would provide a clearer image of past disease and life histories in this geographic area.
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http://dx.doi.org/10.1016/j.ijpp.2019.05.004 | DOI Listing |
J Clin Invest
January 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, United States of America.
Dravet syndrome (DS) is a developmental and epileptic encephalopathy (DEE) that begins in the first year of life. While most cases of DS are caused by variants in SCN1A, variants in SCN1B, encoding voltage-gated sodium channel β1 subunits, are also linked to DS or to the more severe early infantile DEE. Both disorders fall under the OMIM term DEE52.
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March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
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December 2024
Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life-expectancy. CLN6-related NCLs include both late-infantile and adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently cognitive decline, cortical myoclonus, and photosensitivity at low and higher frequencies.
View Article and Find Full Text PDFTransl Psychiatry
December 2024
The Third Affiliated Hospital of Xinxiang Medical University, Xinxiang, He'nan, China.
The infantile neuronal ceroid lipofuscinosis, also called CLN1 disease, is a fatal neurodegenerative disease caused by mutations in the CLN1 gene encoding palmitoyl protein thioesterase 1 (PPT1). Identifying the depalmitoylation substrates of PPT1 is crucial for understanding CLN1 disease. In this study, we found that GABAR, the critical synaptic protein essential for inhibitory neurotransmission, is a substrate of PPT1.
View Article and Find Full Text PDFNeurol India
November 2024
Department of Neurosurgery, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China.
Infantile dural arteriovenous fistula (IDAVF) is a rare complex dural arteriovenous fistulas. This study is to provide a comprehensive understanding of the angioarchitecture of arteriovenous shunts in IDAVFs and planning endovascular treatment. Five cases of IDAVF and a literature review were analyzed to characterize the shunt patterns of IDAVFs in terms of anatomic relations to the arterial feeder, sinuses, and cortical veins.
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