Publications by authors named "Leighann Sremba"

3 Publications

  • Page 1 of 1

Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al.

J Inherit Metab Dis 2020 03 4;43(2):157-158. Epub 2019 Aug 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12148DOI Listing
March 2020

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

JIMD Rep 2019 14;43:71-77. Epub 2018 Apr 14.

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

We describe two cases of neonatal onset interstitial lung disease eventually diagnosed as mucopolysaccharidosis type I (MPS I). In both cases, evaluation led to lung biopsy, pathology review, and identification of glycogen deposition. Pulmonary interstitial glycogenosis (PIG) was considered as a clinical diagnosis in case one; however, further review of electron microscopy (EM) was more consistent with MPS I rather than PIG. Both cases were confirmed to have MPS I by enzyme and molecular analysis. Neonatal interstitial lung disease is an atypical presentation for MPS I which is likely under-recognized. Diagnosis through clinical guidelines and a multidisciplinary approach had a major impact on patient management. The diagnosis of MPS I prompted timely initiation of enzyme replacement therapy (ERT) and the patients ultimately underwent hematopoietic stem cell transplantation (HSCT) to improve symptomatic outcomes. In addition to treatment, immediate precautionary recommendations were made to avoid potentially catastrophic outcomes associated with cervical instability. These cases add to the clinical spectrum of MPS I in the newborn period. They further illustrate the difficulties in early recognition of the disease, and importance of a definitive diagnosis of MPS I in infants with interstitial lung disease.
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http://dx.doi.org/10.1007/8904_2018_101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323025PMC
April 2018

Somatic mosaicism for a novel mutation in a male with severe pyruvate dehydrogenase complex deficiency.

Mol Genet Metab Rep 2014 28;1:362-367. Epub 2014 Aug 28.

Center for Human Genetics Laboratory University Hospitals Case Medical Center, Cleveland, OH, USA.

Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked gene. Males with hemizygous mutations are clinically more severely affected, while those with mosaic mutations may manifest milder phenotypes. We report a patient harboring a novel, mosaic missense mutation, c.523G > A (p.A175T), with a severe clinical presentation of congenital microcephaly, significant brain abnormalities, persistent seizures, profound developmental delay, and failure to thrive. We review published cases of mosaicism.
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http://dx.doi.org/10.1016/j.ymgmr.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121365PMC
August 2014