Objective: To investigate the clinic characters and diagnosis of Susac syndrome.
Methods: Two cases were systematically studied by the authors.
Results: All the two cases were young women. The clinical manifestations include acute and subacute multifocal and diffuse encephalopathic symptoms, hearing loss, and visual loss. Diagnosis is facilitated by demonstration of retinal arteriolar occlusions without uveitis or keratoconjunctivitis, mid-to-low frequency unilateral or bilateral sensorineural hearing loss, and numerous small foci of increased signal in the white and gray matter on T2-weighted brain magnetic resonance imaging.
Conclusions: This rare syndrome often can be identified at an early stage with a careful history and physical examination. MRI, SPECT, retinal fluorescein angiography and audiometry will contribute to diagnosis.
Download full-text PDF |
Source |
---|
BMC Med Genomics
January 2025
Department of Otolaryngology, First Affiliated Hospital of Kunming Medical University, 295 Xichang Road, WuHua District, Kunming City, Yunnan Province, China.
Hearing loss is a prevalent condition with a significant impact on individuals' quality of life. However, comprehensive studies investigating the differential gene expression and regulatory mechanisms associated with hearing loss are lacking, particularly in the context of diverse patient samples. In this study, we integrated data from 10 patients across different regions, age groups, and genders, with their data retrieved from a public transcriptome database, to explore the molecular basis of hearing loss.
View Article and Find Full Text PDFAtten Percept Psychophys
January 2025
School of Allied Health and Communicative Disorders, Northern Illinois University, DeKalb, IL, USA.
Speechreading-gathering speech information from talkers' faces-supports speech perception when speech acoustics are degraded. Benefitting from speechreading, however, requires listeners to visually fixate talkers during face-to-face interactions. The purpose of this study is to test the hypothesis that preschool-aged children allocate their eye gaze to a talker when speech acoustics are degraded.
View Article and Find Full Text PDFSci Rep
January 2025
Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, Hunan, China.
Autosomal dominant deafness-15 which is caused by mutation in the POU4F3 gene, has been reported with a wide degree of clinical heterogeneity, even between intrafamilial members. However, the reason is still elusive. In this study, A four-generation Chinese family with 11 patients manifesting late-onset progressive non-syndromic hearing loss was recruited.
View Article and Find Full Text PDFPediatr Neurol
December 2024
Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia; Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia; Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia. Electronic address:
Background: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders related to dysfunctional glycoprotein and glycolipid biosynthesis. ALG11-related CDG is a rare member of this group, characterized by severe neurodevelopmental impairment, progressive microcephaly, sensorineural hearing loss, and epilepsy. The objective of this report is to provide an update on the phenotype and brain magnetic resonance imaging (MRI) at age seven years for a patient initially described in early infancy with fetal brain disruption sequence.
View Article and Find Full Text PDFTurk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!