MALIGNANT INFANTILE OSTEOPETROSIS
Abstract
Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of marrow space. Due to severe sclerosis, signs symptoms of the disease appear as early as neonatal age. As there is defect in bone marrow children present with deficiency of red blood cells, white blood cells and platelets. There is extramedullary haemopoiesis, cranial nerve compressions and severe growth failure. The condition also presents with early and late onset neonatal sepsis and is often lethal in the first decade of life due to secondary infections. The only curative treatment is stem cell transplantation. This is a case report of a new-born who was admitted in nursery of Ayub Teaching Hospital initially with complains of neonatal jaundice and sepsis , and a second time with lower respiratory tract infection. Workup led to diagnosis of osteopetrosis.Keywords: Malignant infantile osteopetrosis; Neonatal sepsis; OsteopetrosisReferences
Uzun H, Keskin EY, Şenses DA, Erdem A, DİKİCİ B, Kocabay K. A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis. Turk J Med Sci 2009;39(3):457–60.
Kliegman R, Behrman R, Jenson H, Stanton B. Part 42. Section 3. Chapter 690. Disorders Involving Defective Bone Resorption. Nelson Textbook of Pediatrics. Philadelphia, PA, USA: Saunders. 2011. p.2432–3.
Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG. Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia. Arch Dis Child Fetal Neonatal Ed 2000;83(1):21F–23.
Murphy A, Jones J. Autosomal recessive osteopetrosis. Radiology Reference Article. Radiopaedia.org [Internet]. [cited 2016 Jun 5]. Available from: https://radiopaedia.org/articles/autosomal-recessive-osteopetrosis-1
EL-Melegy E, Mohamad S. Case Report: Oestopetrosis Presenting with Hypocalcemic Seizure Early in the Neonatal Period. Med J Cairo Univ 2009;77(2):115–8.
Phadke SR, Gupta A, Pahi J, Pandey A, Gautam P, Agarwal SS. Malignant recessive osteopetrosis. Indian Pediatr 1999;36(1):69–74.
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol 2009;84(8):473–9.
Anish Choudhary. Osteopetrosis [Internet]. Health & Medicine presented at; 05:39:36 UTC [cited 2016 Jun 5]. Available from: http://www.slideshare.net/doctoranish/osteopetrosis
Ambler MW, Trice J, Grauerholz J, O'Shea PA. Infantile osteopetrosis and neuronal storage disease. Neurology 1983;33(4):437–41.
Fitch N, Carpenter S, Lachance RC. Prenatal axonal dystrophy and osteopetrosis. Arch Pathol 1973;95(5):298–301.
Jagadha V, Halliday WC, Becker LE, Hinton D. The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Nruropathol 1988;75(3):233–40.
Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the working party on inborn errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;125(6 Pt 1):896–902.
Ainsworth JR, Bryce IG, Dudgeon J. Visual loss in infantile osteopetrosis. J Pediatr Ophthalmol Strabismus 1993;30(3):201–3.
Young C, Lin KH, Chen RL, Chuu WM, Lin DT, Su IJ. Infantile osteopetrosis: report of two cases. J Formos Med Assoc 1992;91(1):85–9.
Key L, Carnes D, Cole S, Holtrop M, Bar-Shavit Z, Shapiro F, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310(7):409–15.
Published
Issue
Section
License
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.
