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Literature DB >> 23420719

Kearns-Sayre syndrome presenting as isolated growth failure.

Conisha Mone Holloman¹, Lynne A Wolfe, William A Gahl, Cornelius F Boerkoel.

Abstract

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emphasises that defects of energy metabolism can present as isolated growth failure.

Entities: Chemical Disease Gene Species

Mesh：

Year: 2013 PMID： 23420719 PMCID： PMC3604337 DOI： 10.1136/bcr-2012-007272

Source DB: PubMed Journal: BMJ Case Rep ISSN： 1757-790X

19 in total

Review 1. Mitochondriopathies.

Authors: J Finsterer
Journal: Eur J Neurol Date: 2004-03 Impact factor: 6.089

Review 2. The genetics of mitochondrial disease.

Authors: Ryan L Davis; Carolyn M Sue
Journal: Semin Neurol Date: 2012-01-21 Impact factor: 3.420

3. Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.

Authors: J Egger; B D Lake; J Wilson
Journal: Arch Dis Child Date: 1981-10 Impact factor: 3.791

4. Growth hormone deficiency in mitochondrial cytopathy.

Authors: E C Burns; M A Preece; N Cameron; J M Tanner
Journal: Acta Paediatr Scand Date: 1982-07

5. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia.

Authors: A Quade; S Zierz; D Klingmüller
Journal: Clin Investig Date: 1992-05

6. Chondrocyte cell death mediated by reactive oxygen species-dependent activation of PKC-betaI.

Authors: Marcello DelCarlo; Richard F Loeser
Journal: Am J Physiol Cell Physiol Date: 2005-10-19 Impact factor: 4.249

Review 7. Failure to thrive: an update.

Authors: Sarah Z Cole; Jason S Lanham
Journal: Am Fam Physician Date: 2011-04-01 Impact factor: 3.292

2. Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome.

Authors: Glen Lester Sequiera; Abhay Srivastava; Keshav Narayan Alagarsamy; Cheryl Rockman-Greenberg; Sanjiv Dhingra
Journal: Cells Date: 2021-03-05 Impact factor: 6.600

2 in total

Kearns-Sayre syndrome presenting as isolated growth failure.

Review 1. Mitochondriopathies.

Review 2. The genetics of mitochondrial disease.

3. Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.

4. Growth hormone deficiency in mitochondrial cytopathy.

5. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia.

6. Chondrocyte cell death mediated by reactive oxygen species-dependent activation of PKC-betaI.

Review 7. Failure to thrive: an update.

8. Variable outcome of growth hormone administration in respiratory chain deficiency.

Review 9. Endocrine dysfunction in Kearns-Sayre syndrome.

10. Evidence for hypermetabolism in boys with constitutional delay of growth and maturation.

1. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

2. Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome.