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Journals / Turkish Journal of Medical Sciences / 2009 / Cilt: 39 - Sayı: 3

A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis

Kenan KOCABAY
Hakan UZUN
Bünyamin DİKİCİ
Yılmaz Ebru KESKİN
Ayhan ERDEM
Dursun Ali ŞENSES
Pages
457–460
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Malignant infantile osteopetrosis (MIOP) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, which results in generalized osteosclerosis.
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Key Findings & Data:This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure and nerve compression.
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Conclusion & Impact:We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Malignant infantile osteopetrosis · neonatal hypocalcaemia · Malignant infantile osteopetrosis

Abstract

Malignant infantile osteopetrosis (MIOP) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, which results in generalized osteosclerosis. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure and nerve compression. Symptoms related to early or late hypocalcemia may appear as the first presentation of MIOP in a newborn. We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.

Özet

Malignant infantile osteopetrosis (MIOP) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, which results in generalized osteosclerosis. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure and nerve compression. Symptoms related to early or late hypocalcemia may appear as the first presentation of MIOP in a newborn. We present a 14-day-old boy with neonatal hypocalcaemia due to MIOP.

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Cite This Article

KOCABAY, K., UZUN, H., DİKİCİ, B., KESKİN, Y. E., ERDEM, A., ŞENSES, D. A. (2022). A rare cause of neonatal hypocalcemia: malignant infantile osteopetrosis. Turkish Journal of Medical Sciences, Cilt: 39 - Sayı: 3, 457–460. https://ajindex.com/articles/611641

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References (15)

  1. Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999; 3: 102-7
  2. Shapiro F, Key LL, Anast C. Variable osteoclast appearance in human infantile osteopetrosis. Calcif Tissue Int 1988; 43: 67- 76
  3. Felix R, Hofstetter W, Cecchini MG. Recent developments in the understanding of the pathophysiology of osteopetrosis. Eur J Endocrinol 1996; 134: 143-56
  4. Gerritsen EJA, Vossen JM, Van Loo IH, Hermans J, Helfrich MH, Griscelli C et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994; 93: 247-53
  5. Malkani K, Luxembourger MM, Rebel A. Cytoplasmic modifications at the contact zone of osteoclasts and calcified tissue in the diaphyseal growing plate of foetal guinea-pig tibia Calcif Tissue Res 1973; 11: 258-64
  6. Delaisse JM, Vaes G. Mechanism of mineral solubilization and matrix degradation in osteoclastic bone resorption. In: Rifkin R, Gay CV (eds). Biology and Physiology of the Osteoclast. London: CRC Press. 1992: 289-314
  7. Garret RI, Boyce BF, Oreffo ROC, Bonewald L, Poser J, Mundy GR. Oxygen-derived free radicals stimulate osteoclastic bone resorption in rodent bone in vitro and in vivo. J Clin Invest 1990; 85: 632-9
  8. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10: 1767-73
  9. Abinun M, Newson T, Rowe PW, Flood TJ, Cant AJ. Importance of neurologic assessment before bone marrow transplantation for osteopetrosis. Arch Dis Child 1999; 80: 273-274
  10. Avery ME, Dorst JP, Walker DG. Osteopetrosis. In: Bergsma D (ed). Clinical Delineation of Birth Defects. IV. Skeletal Dysplasia. New York: Mosby, 1969: 305-11
  11. 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: 21-3
  12. Kaplan FS, August CS, Fallon MD, Gannon F, Haddad JG. Osteopetrorickets. The paradox of plenty. Pathophysiology and treatment. Clin Orthop Relat Res 1993; 294: 64-78
  13. Datta V, Prajapati NC, Kamble M, Pathak S. Osteopetrorickets. Indian Pediatr 2000; 37: 98-9
  14. Popp D, Zieger B, Schmitt-Gräff A, Nützenadel W, Schaefer F. Malignant osteopetrosis obscured by maternal vitamin D deficiency in a neonate. Eur J Pediatr 2000; 159: 412-415
  15. Lehman RA, Reeves JD, Wils