Infantil malignant osteopetrosis: A late diagnosis

Objective & Hypothesis:A nine month old boy who had growth failure, blindness and hepatosplenomegalia has been diagnosed as malignant autosomal recessive osteopetrosis.

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Key Findings & Data:This late diagnosed case of osteopetrosis was presented to remind the characteristic features of this rare disease.

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Conclusion & Impact:Bone marrow transplantation seems to be best treatment choice for the time being.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

A nine month old boy who had growth failure, blindness and hepatosplenomegalia has been diagnosed as malignant autosomal recessive osteopetrosis. This late diagnosed case of osteopetrosis was presented to remind the characteristic features of this rare disease. Osteopetrosis is a complex disease with at least four different types characterized by defects in osteoclast function and Superoxide production by leukocytes. Autosomal recessive malignant type is usually diagnosed in early infancy. Anemia, hepatosplenomegaly, suspectibilitiy infections, growth failure, blindness and generalized osteosclerosis are the main findings. Bone marrow transplantation seems to be best treatment choice for the time being.

Özet

Hepatosplenomegali, görme kaybı, gelişme geriliği olan 9 aylık bir erkek çocuğuna malign otozomal resesif osteopetrozis tanısı konmuştur. Bu vaka geç tanı alması nedeniyle, ender görülen osteopetrozisin karakteristik özelliklerini hatırlatmak amacıyla sunulmuştur. Osteoklastik fonksiyon ve lökositlerde süperoksit yapımı defektleriyle karakterize kompleks bir hastalık olan osteopetrozisin bilinen dört farklı tipi vardır. Otozomal resesif malign tipi genellikle erken süt çocukluğu döneminde tanı alır. Anemi, hepatosplenomegali, infeksiyonlara yatkınlık, gelişme geriliği, körlük, yaygın osteoskleroz ana bulgulardır. Kemik iliği transplantasyonu günümüzde en geçerli tedavi yöntemi olarak görülmektedir.

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Cite This Article

AKYILDIZ, B., NUHOĞLU, A., URGANCI, N. (2022). Infantil malignant osteopetrosis: A late diagnosis. Ege Pediatri Bülteni, Cilt: 10 - Sayı: 1, 31–34. https://ajindex.com/articles/495822

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