Results 111 to 120 of about 17,947 (227)

Bilateral basal ganglia hyperintensity and cerebellar dysfunction in avermectin poisoning: a case report. [PDF]

J Med Case Rep
Al-Zamrreek ZA, Ibrahim A.
europepmc   +1 more source

Compensation in vestibular neuronitis [Il compenso nella neurite vestibolare]

, 2005
After a vestibular neuronitis, the majority of patients with functional residual deficit reach a static vestibular compensation. Only in 16% of patients in fact a spontaneous nystagmus after 6 months is detectable.
Casorelli, I., Nuti, D., Mandala, M.
core  

Trapped Fourth Ventricle in a Pediatric Patient With a History of Post‐Traumatic Hydrocephalus and Ventriculoperitoneal Shunt: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Trapped fourth ventricle (TFV) is a rare, serious complication of ventriculoperitoneal (VP) shunting that can mimic posterior fossa tumors and cause life‐threatening brainstem compression. We report the case of a 7‐year‐old boy with a history of a VP shunt for post‐traumatic hydrocephalus who presented with progressive drowsiness and gait ...
Muhammad Hamza, Muhammad Ibrahim, Ihsan Ullah, Rehmat Farhaj, Fazeela Bibi, Khalil El Abdi, Bilal Aslam, Vohra Maham Hassan, Said Hamid Sadat   +8 more
wiley   +1 more source

Clinical Spectrum, Heteroplasmy‐Phenotype Correlation, and Prognosis of the MT‐ND3 m.10191 T > C Mutation

CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.
This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He, Huafang Jiang, Tongyue Li, Yang Liu, Ying Zou, Chaolong Xu, Zhimei Liu, Danmin Shen, Ruoyu Duan, Minhan Song, Yunxi Zhang, Zixuan Zhang, Mingxi Sun, Rui Shen, Hong Xue, Fang Fang   +15 more
wiley   +1 more source

Longitudinal Changes in Nystagmus Following Late Treatment for Congenital Blindness. [PDF]

Invest Ophthalmol Vis Sci
Ralekar C, Vogelsang M, Vogelsang L, Kumar A, Lall N, Gupta P, Diamond S, Ganesh S, Sinha P.   +8 more
europepmc   +1 more source

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +1 more source

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

Immunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi, Haohao Wu, Baogang Huang, Yan Zheng, Jia Liu, Jianjian Bao, Fengming Xu, Kang Du   +7 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou, Hongxin Li, Xinyi Yang, Chunli Wang, Wenting Zhang   +4 more
wiley   +1 more source