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Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
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.
View Article and Find Full Text PDFA novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome.
Hum Genome Var
January 2025
Division of Molecular Genetics, Center for Medical Science, Fujita Health University Hospital, Toyoake, Aichi, Japan.
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms.
View Article and Find Full Text PDFCervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.
Childs Nerv Syst
December 2024
Department of Neurological Surgery, University of Miami Miller School of Medicine, 1095 NW 14 Terrace, Miami, FL, 33136, USA.
Wolcott-Rallison Syndrome is an extremely rare syndrome characterized by infantile non-autoimmune diabetes, extensive skeletal dysplasia, and multi-organ failure requiring transplant. Prognosis is very poor, and as such, surgical intervention for symptomatic cervical spine compromise in pediatric patients has not been widely reported in part due to their high fragility. We report a complex case of Wolcott-Rallison Syndrome that presented with cervical myelopathy due to cervicomedullary compression and the exceptional surgical considerations required for successful intervention.
View Article and Find Full Text PDFType I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
EClinicalMedicine
December 2024
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.
Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.
Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.
J Neurol
December 2024
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Background: PNPLA8 is a gene that causes an autosomal recessive mitochondrial disease characterised by microcephaly and intractable epilepsy in infants and cerebellar ataxia and limb weakness in adults. Herein, we report the clinical, muscle pathology, and brain imaging features of an adult patient with new variants of PNPLA8.
Methods: A 27-year-old Chinese woman presented with abnormal gait at age 11, remained amenorrhoeic with an infantile uterus at age 17, and presented with head and limb tremors at age 21.
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