scholarly journals Kearns Sayer Syndrome- A Case Report

2020 ◽  
Vol 6 (6) ◽  
pp. 271-272
Author(s):  
Reshmi Mishra ◽  
Keyword(s):  
Case Report ◽  
Mitochondrial Disease ◽  
Prevalence Rate ◽  
Rare Case ◽  
Age Of Onset ◽  
Progressive External Ophthalmoplegia ◽  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome

Kearns–Sayre syndrome (KSS) is a rare mitochondrial disease was first described in 1958. The characteristic triad is age of onset less than 20 years, progressive external ophthalmoplegia, pigmentary retinopathy, The prevalence rate of KSS is nearly 1–3 per 100 000 individuals. Here, we report a rare case of a 11-year-old male with KSS.

scholarly journals Late-onset presentation of POLG1-associated mitochondrial disease

2019 ◽  
Vol 12 (3) ◽  
pp. e228482 ◽  
Author(s):  
Bruna Meira ◽  
Rafael Roque ◽  
Miguel Pinto ◽  
André Caetano
Keyword(s):  
Mitochondrial Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Clinical Feature ◽  
Gait Ataxia ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Genetic Studies ◽  
In Cis

Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound heterozygosity of known pathogenic mutations in the POLG1 gene (variant T252I/P587 L in cis configuration in allele 1 and variant R807C in allele 2). Late life presentation highlights that mitochondrial disorders should be considered regardless of age of onset of symptoms.

scholarly journals Cochlear Implantation in a Patient with Mitochondrial Disease. Kearns-Sayre Syndrome. A Case Report.

1996 ◽  
Vol 89 (10) ◽  
pp. 1195-1199 ◽  
Author(s):  
Tomo YAMAGUCHI ◽  
Tetsuo HIMI ◽  
Yasuaki HARABUCHI ◽  
Makoto HAMAMOTO ◽  
Yuji YOKOYAMA ◽  
...  
Keyword(s):  
Case Report ◽  
Mitochondrial Disease ◽  
Cochlear Implantation ◽  
Kearns Sayre Syndrome

scholarly journals Multiple Unerupted Impacted Supernumerary Teeth: A Rare Case Report of Father and Son

2018 ◽  
Vol 3 (2) ◽  
pp. 863-867
Author(s):  
Ajit Joshi ◽  
Manu Goel ◽  
Nitin Fating ◽  
Pawan Dawane
Keyword(s):  
Case Report ◽  
Family History ◽  
Prevalence Rate ◽  
Rare Case ◽  
Radiographic Examination ◽  
Etiologic Factor ◽  
Supernumerary Teeth ◽  
Rare Case Report ◽  
History Of ◽  
Father And Son

Multiple impacted supernumerary teeth without any associated systemic conditions or syndromes are rare. The prevalence rate of supernumerary teeth in the permanent dentition is between 0.1– 6.9 % as compared to 0.3–0.6% in theprimary dentition. In this article, reporting a rare family history of non-syndromic multiple impacted supernumerary teeth,found incidentally during routine radiographic examination. Though the etiologic factor of multiple impacted supernumerary teeth are still not clearly known especially in cases without any syndrome. However, thorough evaluation is necessary toexclude associated systemic conditions.

scholarly journals Kearns-Sayre Syndrome: A Rare Mitochondrial Disorder

2017 ◽  
Vol 19 (1) ◽  
pp. 66-69
Author(s):  
Quazi Tarikul Islam ◽  
Homayra Tahseen Hossain ◽  
Md Abul Kashem Khandaker ◽  
HAM Nazmul Ahasan ◽  
Maksudul Majumder ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Mitochondrial Disorder ◽  
Progressive External Ophthalmoplegia ◽  
Endocrine Disorders ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Diagnostic Investigation ◽  
Kearns Sayre Syndrome ◽  
First Case ◽  
Wide Range ◽  
Clinical Background

Mitochondrial disease, once thought to be a rare clinical entity, is now recognized as an important cause of a wide range of neurologic, muscle, cardiac and endocrine disorders. Kearns Sayre syndrome is a rare mitochondrial disease, involving deletion of mitochondrial DNA. This syndrome ischaracterized by progressive external ophthalmoplegia (PEO), retinitis pigmentosa and an onset before the age of 20 years. First case was reported in 1958. We are reporting a case with chronic progressive external ophthalmoplegia, bilateral partial ptosis with onset at 10 years of age. He also had features of myopathy and neuropathy without any fatigable weakness. Our diagnosis is mostly based on clinical background and by exclusion of other common disorders, as definitive diagnostic investigation genetic testing due to unavailability so was not done.J MEDICINE Jan 2018; 19 (1) : 66-69

scholarly journals Solitary plasmocytoma of the skull: case report and review of the literature

2016 ◽  
Vol 30 (3) ◽  
pp. 412-418
Author(s):  
Luis Rafael Moscote-Salazar ◽  
Hernando Raphael Alvis-Miranda ◽  
Willem Guillermo Calderon-Miranda ◽  
Zenen Antonio Carmona Meza ◽  
Nidia Escobar Hernandez ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Case Report ◽  
Rare Case ◽  
Plasma Cells ◽  
Age Of Onset ◽  
Reticuloendothelial System ◽  
Solitary Plasmacytoma ◽  
Review Of The Literature ◽  
Long Period ◽  
Extramedullary Plasmocytoma

Abstract Solitary plasmacytoma and extramedullary plasmocytoma are tumors of malignant character composed of plasma cells, with a mean age of onset at 60 years. They can appear anywhere where the reticuloendothelial system is present. Usually these tumors lead to the development of multiple myeloma in a period of time ranging from 3 to 5 years. We present a rare case handled in our neurosurgery service associated with an unusually long period of evolution.

scholarly journals A report on a rare case of Kearns Sayre-like syndrome

1970 ◽  
Vol 2 (2) ◽  
pp. 160-163
Author(s):  
Y Gupta ◽  
M Gupta ◽  
K Sambhav ◽  
A Phougat ◽  
A Varshney
Keyword(s):  
Facial Nerve ◽  
Short Stature ◽  
Rare Case ◽  
Nerve Palsy ◽  
Facial Nerve Palsy ◽  
Past History ◽  
Pigmentary Retinopathy ◽  
Kearns Sayre Syndrome ◽  
History Of

Purpose: To report the presentation of a rare case of Kearns-Sayre-like syndrome (KSS) Case: A 14-year-old boy presented with progressive drooping of both upper eyelids for 10 years. Past history of right sided hemi-plegia and left facial nerve palsy was present. Examination (OU) showed total external ophthalmoplegia, ptosis and pigmentary retinopathy. The patient also had a short stature (height 121.9 cm) for his age. Keywords: Kearns Sayre syndrome; total external ophthalmoplegia; ptosis DOI: 10.3126/nepjoph.v2i2.3725 Nep J Oph 2010;2(2) 160-163

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