KEARNS-SAYRE SYNDROME MIGHT BE MIXED UP WITH CPEO PLUS
نویسندگان
چکیده
منابع مشابه
Kearns-Sayre syndrome
The Kearns-Sayre syndrome is a mitochondrial myopathy characterised by ptosis, chronic progressive external ophthalmoplegia, abnormal retinal pigmentation, and cardiac conduction defects. A unique case is reported in which there was rapid development ofprogressive congestive cardiac failure that required cardiac transplantation. A review of published reports of mitochondrial myopathy shows that...
متن کامل[Kearns-Sayre syndrome].
The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and...
متن کاملKearns-Sayre syndrome "plus". Classical clinical findings and dystonia.
We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragg...
متن کاملMR of Kearns-Sayre Syndrome
A 6-year-old boy was first evaluated because of short stature and hypocalcemia. His mother's pregnancy and delivery had been normal. Growth failure became progressively obvious; it was quantified at -3.5 standard deviations when the patient was 6 months old. Within 2 years, his developmental milestones declined, necessitating special education. When he was 5 years old, carpopedal spasm began; t...
متن کاملDiagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up
about the clinical presentation and central nervous system (CNS) imaging in 19 patients with Kearns-Sayre syndrome (KSS), of whom 12 were genetically confirmed. We have the following comments and concerns. The main disadvantage of the study was that the diagnosis was not genetically confirmed in all patients and mitochondrial DNA (mtDNA) deletion was detected in only 63% patients. What was the ...
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ژورنال
عنوان ژورنال: MNJ (Malang Neurology Journal)
سال: 2019
ISSN: 2407-6724,2442-5001
DOI: 10.21776/ub.mnj.2019.005.01.8