Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion [PDF]
, 1992 Documenta Ophthalmologica 1992, Volume 82, Issue 1-2, pp 73-79 Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion Dr H. J. Simonsz, K. Bärlocher, A.
A Rötig +7 more
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
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Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
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Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, EarlyView.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report
Journal of Medical Case Reports, 2009 Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.
Mihai Cristina +4 more
doaj +1 more source
Hidden density in single-family neighborhoods: Backyard cottages as an equitable smart growth strategy. [PDF]
, 2014 Chronic progressive external ophthalmoplegia (CPEO) is a manifestation of various disorders sharing a common pathophysiology of mitochondrial dysfunction leading to progressive extraocular myopathy.
Wegmann, Jake, Chapple, Karen
core
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
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Miller-Fisher Syndrome: A Case Report
Türk Oftalmoloji Dergisi, 2014 Guillain-Barre syndrome (GBS) is an autoimmune syndrome leading to demyelination and inflammation of the peripheral and cranial nerves. Miller-Fisher syndrome (MFS) is a clinical entity which has an acute onset of ataxia, external ophthalmoplegia ...
Burak Ulaş, Aysel Pelit, İlknur Erol
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Orbital Complications of Acute Rhinosinusitis in Adulthood: Predictors of Outcome and Management
The Laryngoscope, EarlyView.In a multicenter cohort of 213 adults with orbital complications of acute rhinosinusitis, 68% required surgery and the modified Chandler classification was the strongest predictor of treatment modality. While abscess‐related and type II complications frequently necessitated surgical management, final ophthalmologic outcomes were uniformly favorable ...
Alessandro Vinciguerra +41 more
wiley +1 more source
Multi-system neurological disease is common in patients with OPA1 mutations [PDF]
, 1907 Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy.
A. Wood +180 more
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