Fatigable ptosis as an initial presentation of adult-onset Leigh syndrome
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چکیده
منابع مشابه
Adult-onset bulbar ptosis in Joubert syndrome
In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome. Joubert syndrome is a rare neurodevelopmental disorder with malformations in cerebellum and brainstem. Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date. This 24-year-old Joubert patient ...
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Abstract Background In Acute Myeloid Leukemia (AML), malignant clones of immature myeloid cells (primarily blasts) proliferate, replace bone marrow, circulate in blood and invade other tissues. The unique presentation of unilateral ptosis and unilateral eyelid swelling in AML has been reported during the present study. Case Report A 7-year-old girl was encountered with progressively increa...
متن کاملBilateral Ptosis as the First Presentation of Guillain-Barre Syndrome.
Objective Guillain-Barre syndrome (GBS) is the most common cause of acute weakness in children. It has multiple variant forms with different presentations. A rare initial sign is ptosis. In this study, we present a 10-year-old girl with bilateral ptosis without opthalmoplegia followed by a weakness in extremities with a favourable response to intravenous immunoglobulin. Due to the patient's ini...
متن کاملbilateral ptosis as the first presentation of guillain-barre syndrome
how to cite this article: talebian a, soltani b, talebian m. bilateral ptosis as the first presentation of guillain-barre syndrome. iran j child neurol. winter 2016; 10(1):70-72. abstract objective guillain-barre syndrome (gbs) is the most common cause of acute weakness in children. it has multiple variant forms with different presentations. a rare initial sign is ptosis. in this study, we pres...
متن کاملAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
BACKGROUND Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It can result from inherited or sporadic mutations in either the mitochondrial or the nuclear genome, many of which affect intraorganellar gene expression. The estimated prevalence of 1/4300 indicates these to be amongst the commonest inherited neuromuscular disorders, em...
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ژورنال
عنوان ژورنال: Neurology
سال: 2017
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000004528