Publications by authors named "Laurie Tsilianidis"

6 Publications

  • Page 1 of 1

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2019 04 19;21(4):772-789. Epub 2019 Jan 19.

American College of Medical Genetics and Genomics, Bethesda, MD, USA.

Purpose: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), β (PHKB), ɣ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients.

Methods: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable.

Results: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed.

Conclusion: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.
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http://dx.doi.org/10.1038/s41436-018-0364-2DOI Listing
April 2019

45,X/47,XXX Mosaicism and Short Stature.

Case Rep Pediatr 2015 7;2015:263253. Epub 2015 Jun 7.

Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.
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http://dx.doi.org/10.1155/2015/263253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475548PMC
July 2015

Postinjection Muscle Fibrosis from Lupron.

Case Rep Pediatr 2015 25;2015:938264. Epub 2015 May 25.

Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA ; Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

We describe the case of a 6.5-year-old girl with central precocious puberty (CPP), which signifies the onset of secondary sexual characteristics before the age of eight in females and the age of nine in males as a result of stimulation of the hypothalamic-pituitary-gonadal axis. Her case is likely related to her adoption, as children who are adopted internationally have much higher rates of CPP. She had left breast development at Tanner Stage 2, adult body odor, and mildly advanced bone age. In order to halt puberty and maximize adult height, she was prescribed a gonadotropin releasing hormone analog, the first line treatment for CPP. She was administered Lupron (leuprolide acetate) Depot-Ped (3 months) intramuscularly. After her second injection, she developed swelling and muscle pain at the injection site on her right thigh. She also reported an impaired ability to walk. She was diagnosed with muscle fibrosis. This is the first reported case of muscle fibrosis resulting from Lupron injection.
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http://dx.doi.org/10.1155/2015/938264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458552PMC
June 2015

A Case of Primary and Secondary Adrenal Insufficiency in Children.

Clin Pediatr (Phila) 2016 Mar 19;55(3):304-7. Epub 2015 Jun 19.

Cleveland Clinic Children's, Cleveland, OH, USA

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http://dx.doi.org/10.1177/0009922815591895DOI Listing
March 2016

Aggressive therapy improves cirrhosis in glycogen storage disease type IX.

Mol Genet Metab 2013 Jun 21;109(2):179-82. Epub 2013 Mar 21.

Division of Pediatric and Adolescent Endocrinology, Glycogen Storage Disease Program, Cleveland Clinic Foundation, Cleveland, OH, USA.

Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients with the disease are thought to outgrow the childhood manifestations, which include hepatomegaly, poor growth, and ketosis with or without hypoglycemia. Long term complications including fibrosis and cirrhosis have seldom been reported in the most common subtype, GSD IXα. We present two cases of children with GSD IXα who had fibrosis at the time of diagnosis in addition to the commonly reported disease manifestations. Structured therapy with frequent doses of uncooked cornstarch and protein supplementation was initiated, and both children responded with improved growth velocity, increased energy, decreased hepatomegaly and improved well-being. Additionally, radiographic features of fibrosis improved. We propose that GSD IXα is not a benign condition. Even in patients with a less severe presentation, consideration of a structured treatment regimen to improve quality of life appears warranted.
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http://dx.doi.org/10.1016/j.ymgme.2013.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672367PMC
June 2013
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