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Nonketotic hyperglycinemia (NKH), also known as glycine encephalopathy, is a rare inherited neurometabolic disorder caused by a deficiency in the glycine cleavage enzyme system (GCS), leading to the pathological accumulation of glycine in blood and cerebrospinal fluid (CSF). This case report details a neonate presenting with central apnea, profound hypotonia, and refractory seizures, alongside prenatal findings of polyhydramnios and hiccup-like fetal movements, all strongly suggestive of severe NKH. Diagnostic evaluation confirmed markedly elevated glycine levels in serum and CSF, with a CSF-to-plasma glycine ratio exceeding 0.
View Article and Find Full Text PDFAggressive Infection by K1/ST1265 Leading to Multiple Abscesses: Case Report and Literature Review.
Infect Drug Resist
January 2025
Department of Critical Care Medicine, Jiangshan People's Hospital, Quzhou, People's Republic of China.
Hypervirulent (hvKp) has attracted increasing attention in recent years. Diabetes and serotype K1 or K2 are risk factors for invasive liver abscess syndrome including liver abscesses and the metastatic complications such as bacteremia, meningitis, endophthalmitis, and necrotizing fasciitis. Simultaneous infections of the liver, lungs, prostate, brain, and eyes are exceedingly rare.
View Article and Find Full Text PDFPeriventricular Nodular Heterotopias Induced-Seizures in an Adolescent.
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December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFAtypical lumbar pedicle fractures. A case report and comparative review of the literature: Bisphosphonate-related? Possible matching with diagnostic criteria of atypical fractures of the femur.
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March 2024
Consultant Orthopaedic Surgeon, San Carlo Borromeo Hospital, Via Pio II 3, Milano, Italy.
Introduction: Bisphosphonates are commonly used to prevent osteoporotic fractures. Many randomized controlled trials have proved the efficacy of bisphosphonates, showing their ability to increase bone mineral density and decrease the risk of hip and vertebral fractures. Atypical, bisphosphonate-related fractures concerning the femur have been widely described and a list of primary and secondary clinical and radiographic criteria are used in order to achieve diagnosis.
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