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Neuroregression in Two Siblings Due to Dopa-Responsive Dystonia (DRD)- Plus.
Indian J Pediatr
December 2024
Department of Pediatric Neurology, Amrita Institute of Medical Sciences, Faridabad, Haryana, 121002, India.
Identification of a Novel Nonsense Mutation in and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.
Front Neurol
July 2022
Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
Background And Purpose: Infantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration. Individuals affected with INAD are characterized by rapid progressive psychomotor deterioration, neuroregression, and hypotonia followed by generalized spasticity, optic atrophy, and dementia. In this case, we aimed to identify the underlying causative genetic factors of a Chinese family with two siblings who presented with walking difficulty and inability to speak.
View Article and Find Full Text PDFIntroduction: There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from mutations in the CLN6 gene, most patients have homozygote variants associated with consanguinity, and rarely, with compound heterozygote variants.
Case Report: Siblings, started at 4 and 5 years each, with unstable gear, frequent falls and difficult running.
Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.
J Pediatr Genet
September 2021
Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.
Childhood ataxia with central nervous system hypomyelination (CACH) is a recently described childhood inherited white matter disease, caused by mutations in any of the five genes encoding eukaryotic translation initiation factor ( ). Retrospective review of the charts of children with CACH was performed from January 2014 to March 2020 at tertiary care center from Southern India. Diagnosis was based on magnetic resonance imaging (MRI) criteria or genetic testing.
View Article and Find Full Text PDFOphthalmic findings as clues for early diagnosis of Vici syndrome in a neonate.
Ophthalmic Genet
December 2021
Department of Ophthalmology, Sultan Qaboos University, Muscat, Oman.
Aim: To report the earliest diagnosis of Vici syndrome in a three-week-old Omani girl.
Methods: A three-week-old baby girl with blond hair and agenesis of the corpus callosum was born to consanguineous parents. An older sibling with similar findings had died at the age of six months with recurrent seizures and aspiration pneumonia without a diagnosis of the underlying systemic condition.
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