Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia

Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of in...

Descripción completa

Detalles Bibliográficos
Autores principales: Freese, Jurhee, Greenup, Erin, Sunil, Bhuvana, Ashraf, Ambika P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255499/
https://www.ncbi.nlm.nih.gov/pubmed/32500110
http://dx.doi.org/10.1210/jendso/bvaa044
_version_ 1783539742703353856
author Freese, Jurhee
Greenup, Erin
Sunil, Bhuvana
Ashraf, Ambika P
author_facet Freese, Jurhee
Greenup, Erin
Sunil, Bhuvana
Ashraf, Ambika P
author_sort Freese, Jurhee
collection PubMed
description Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation.
format Online
Article
Text
id pubmed-7255499
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-72554992020-06-03 Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia Freese, Jurhee Greenup, Erin Sunil, Bhuvana Ashraf, Ambika P J Endocr Soc Case Reports Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation. Oxford University Press 2020-04-28 /pmc/articles/PMC7255499/ /pubmed/32500110 http://dx.doi.org/10.1210/jendso/bvaa044 Text en © Endocrine Society 2020. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Reports
Freese, Jurhee
Greenup, Erin
Sunil, Bhuvana
Ashraf, Ambika P
Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title_full Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title_fullStr Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title_full_unstemmed Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title_short Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia
title_sort osteopetrorickets presenting with failure to thrive and hypophosphatemia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7255499/
https://www.ncbi.nlm.nih.gov/pubmed/32500110
http://dx.doi.org/10.1210/jendso/bvaa044
work_keys_str_mv AT freesejurhee osteopetroricketspresentingwithfailuretothriveandhypophosphatemia
AT greenuperin osteopetroricketspresentingwithfailuretothriveandhypophosphatemia
AT sunilbhuvana osteopetroricketspresentingwithfailuretothriveandhypophosphatemia
AT ashrafambikap osteopetroricketspresentingwithfailuretothriveandhypophosphatemia