Brain injury due to persistent hyperinsulinemic hypoglycemia of infancy [PDF]
, 2007 A
De Visschere, Pieter +3 more
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Viruses, 2019 When infection with lymphocytic choriomeningitis (LCMV) occurs during pregnancy, the virus can infect the fetus and injure the fetal brain. However, type, location, and severity of neuropathology differ among cases.
Jeffrey M. Plume +2 more
doaj +1 more source
Clinical considerations in transitioning patients with epilepsy from clonazepam to clobazam: a case series. [PDF]
, 2014 IntroductionIn treating refractory epilepsy, many clinicians are interested in methods used to transition patients receiving clonazepam to clobazam to maintain or increase seizure control, improve tolerability of patients' overall drug therapy regimens ...
Chung, Steve +4 more
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A Case of First Episode Psychosis Uncovering Encephalomalacia in a Young Female [PDF]
Indian Journal of Private PsychiatryAim and background: The diagnosis of organic psychosis is made when psychotic symptoms present after a specific neurological or organic event. One such dysfunction of brain structure is encephalomalacia, which refers to softening of brain tissue and can ...
Rahul Bansal, Prerna Maheshwari
doaj +1 more source
A case of tacrolimus-induced encephalopathy after kidney transplantation [PDF]
, 2011 We present a case of tacrolimus-induced encephalopathy after successful kidney transplantation. An 11-year-old girl presented with sudden onset of neurologic symptoms, hypertension, and psychiatric symptoms, with normal kidney function, after kidney ...
Myoung Uk Kim +3 more
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Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution [PDF]
, 2017 : Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment ...
Castiglione, D. +4 more
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Severe isolated sulfide oxidase deficiency with a novel mutation
The Turkish Journal of Pediatrics, 2021 Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity.
Meriç Ergene +6 more
doaj +1 more source
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]
, 2018 FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R. +9 more
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Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy [PDF]
, 2012 Alaskan Husky Encephalopathy (AHE) has been previously proposed as a mitochondrial encephalopathy based on neuropathological similarities with human Leigh Syndrome (LS). We studied 11 Alaskan Husky dogs with AHE, but found no abnormalities in respiratory
A Cerase +43 more
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