Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures [PDF]
, 2019 Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with short stature, poor weight gain, dysmorphic features, and features of Fanconi anemia.
AlDhaheri, Noura S. +9 more
core +1 more source
Journal of Medical Case Reports, 2018 Background Wernekink commissure syndrome causes a peculiar combination of internuclear ophthalmoplegia, dysarthria, and delayed-onset palatal myoclonus.
Naresh Mullaguri +2 more
doaj +1 more source
Hypertrophic olivary degeneration after surgical removal of cavernous malformations of the brain stem: report of four cases and review of the literature [PDF]
, 2008 ManuscriptBackground: Hypertrophic olivary degeneration (HOD) is a pathological phenomenon that occurs after injury to the dentato-olivary pathway. Its hallmarks include hypertrophy of the olive with increased T2 signal intensity on magnetic resonance ...
Couldwell, William T., Hornyak, Mark
core
Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings [PDF]
, 2020 Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system.
Alves, Ferreira +11 more
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Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype [PDF]
, 2018 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG).
Atwal, Paldeep S. +5 more
core +1 more source
A Long-Term Follow-up of Pontine Hemorrhage With Hearing Loss [PDF]
, 2015 A pontine intracranial hemorrhage (ICH) evokes several neurological symptoms, due to the various nuclei and nerve fibers; however, hearing loss from a pontine ICH is rare. We have experienced a non-traumatic pontine ICH patient, with hearing loss.
김덕용, 김승기, 김애령
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A Case of Abnormal Postures in the Left Extremities after Pontine Hemorrhage: Dystonia or Pseudodystonia? [PDF]
, 2020 It is difficult to determine the pathoanatomical correlates of dystonia because of its complex pathophysiology, and most cases with secondary dystonia are associated with basal ganglia lesions.
박찬욱 +6 more
core +1 more source
Movement Disorders Clinical Practice, Volume 12, Issue 1, Page 89-93, January 2025.
Carlo Fazio +9 more
wiley +1 more source
Management of brainstem haemorrhages [PDF]
, 2019 Among spontaneous intracranial haemorrhages, primary non-traumatic brainstem haemorrhages are associated with the highest mortality rate. Patients classically present with rapid neurological deterioration. Previous studies have found that the severity of
Bozinov, Oliver +7 more
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Arquivos de Neuro-Psiquiatria, 2005 We describe a case of bilateral olivary hypertrophy and palatal tremor after unilateral cerebellar infarction. Hypertrophic olivary degeneration (HOD) is associated with hypersignal in the inferior olivary nucleus (ION), on T2-weighted images.
Adriana Bastos Conforto +7 more
doaj +1 more source