Ocular manifestations in Gorlin-Goltz syndrome [PDF]
, 2019 Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F. +8 more
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A Rare Coexistence of Paraneoplastic Cerebellar Degeneration: Papillary Thyroid Carcinoma
Current Oncology, 2021 Paraneoplastic cerebellar degeneration (PCD) is a rare neuroimmunological disease that may accompany tumors. In this article, we present a patient with progressive gait difficulty who was diagnosed with PCD and, in a rare comorbidity, with papillary ...
Zeynep Özözen Ayas, Gülgün Uncu
doaj +1 more source
Hennebert's sign in superior semicircular canal dehiscence syndrome: A Video Case Report [PDF]
, 2012 Superior semicircular canal dehiscence (SSCD) syndrome has been called the great otologic mimicker because its presentation overlaps with otosclerosis, Meniere's disease, perilymphatic fistula, and patulous eustachian tube. A valuable examination finding
Arts +6 more
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Longitudinal Quantification of Eye-Movement Impairments after Pontine Hemorrhage
Frontiers in Neurology, 2017 IntroductionWe report a case of hypertrophic olivary degeneration due to pontine hemorrhage. A 59-year-old male with untreated hypertension suffered a primary pontine hemorrhage, which caused horizontal eye-movement limitation.
N. Jeremy Hill +10 more
doaj +1 more source
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
core +1 more source
RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected
Case Reports in Ophthalmological Medicine, 2022 Background. Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of ...
Mirjana Bjeloš +7 more
doaj +1 more source
Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]
, 2019 Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo +3 more
core +1 more source
Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]
, 2011 PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A +17 more
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Mutations in a thiaminetransporter gene and Wernicke's-like encephalopathy [PDF]
, 2009 journal ...
Kono, Satoshi +5 more
core +2 more sources
Nystagmus in a Young Male with Celiac Disease
International Journal of Hematology-Oncology and Stem Cell Research, 2012 A 25 y/o male was admitted with iron deficiency anemia and nystagmus. Anti-TTG (IgA) and Anti-endomyosial (IgA) were high and pathologic findings in duodenal biopsy were suggestive of celiac disease.
Nasim Valizadeh +3 more
doaj +2 more sources