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A Rare Cause of Hemoptysis in West Syndrome—Isolated Aortopulmonary Collaterals in Structurally Normal Heart [PDF]

open access: yesIndian Journal of Radiology and Imaging, 2021
Major aortopulmonary collateral arteries (MAPCAs) are abnormal systemic to pulmonary collateral vessels originating from the persistent segmental arteries.
Kramadhari Harshith   +2 more
doaj   +2 more sources

Asymmetric epileptic spasms after corpus callosotomy in children with West syndrome may be a good indicator for unilateral epileptic focus and subsequent resective surgery [PDF]

open access: yesEpilepsia Open, 2022
Objective This retrospective study was designed to observe differences in ictal movements of epileptic spasm (ES) before and after corpus callosotomy (CC).
Daiki Uchida   +7 more
doaj   +2 more sources

Dental Considerations and Treatment Approaches in West Syndrome—Infantile Spasms: A Case Report [PDF]

open access: yesJournal of South Asian Association of Pediatric Dentistry, 2023
Introduction: West syndrome (WS) comprises a classic triad of infantile spasms (ISs), hypsarrhythmia, and psychomotor delay. It is considered a rare epileptic encephalopathy typical to manifest in infancy or early childhood.
Amit Khatri   +6 more
doaj   +1 more source

West syndrome in patients with Kabuki syndrome (literature review and case report)

open access: yesРусский журнал детской неврологии, 2022
Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability.Objective: to study the characteristic features of KS comorbid with West ...
M. L. Zhitomirskaya   +2 more
doaj   +1 more source

West Syndrome and associated Autism Spectrum Disorder: Proposal for a neuropsychological assessment and intervention protocol [PDF]

open access: yesPapeles del Psicólogo, 2022
Patients with West Syndrome and associated Autism Spectrum Disorder (ASD) have cognitive deficits (i.e., attentional, mnestic, visuoperceptive, executive function, and language impairments) that may affect their quality of life.
Christian López-Cruz   +3 more
doaj   +1 more source

Infantile epileptic spasms syndrome as an initial presentation in infantile choroid plexus papilloma: A case report

open access: yesFrontiers in Pediatrics, 2022
We present an interesting report of a 5-month-old infant with epileptic spasms and developmental delay who presented with non-isolated ventriculomegaly in utero and whose brain magnetic resonance imaging revealed right ventricular choroid plexus ...
Faliang Zhou   +4 more
doaj   +1 more source

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome

open access: yesFrontiers in Genetics, 2023
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin   +5 more
doaj   +1 more source

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

open access: yesFrontiers in Genetics, 2023
Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin   +5 more
doaj   +1 more source

The Effectiveness of Acth Therapy According to Etiology in Patients with West Syndrome and Its Long-Term Effects on Bone Mineral Metabolism and Adrenal Pathway

open access: yesÇocuk Dergisi, 2022
Objective: West syndrome is the most common infantile epileptic encephalopathy, and ACTH or oral corticosteroids are frequently used in its treatment. The aim of this study was to evaluate the efficacy of ACTH therapy and its effects on bone metabolism ...
Mesut Güngör   +5 more
doaj   +1 more source

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

open access: yesAnnals of Medical Science and Research, 2023
West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson   +2 more
doaj   +1 more source

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