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Inicio Revista Colombiana de Reumatología (English Edition) A case report of neonatal osteopetrosis
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Vol. 31. Issue 2.
Pages 276-279 (April - June 2024)
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Vol. 31. Issue 2.
Pages 276-279 (April - June 2024)
Case Report
A case report of neonatal osteopetrosis
Reporte de un caso de osteopetrosis neonatal
Vahideh Hosseinzadeha, Elias Mazrooei Radb,
Corresponding author
Elias_mazrooei@yahoo.com

Corresponding author.
, Reyhaneh Rezvani Khorashada, Ezzat Khodashenasc
a Neonatal Research Center, Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran
b Biomedical Engineering Department, Khavaran Higher Education Institute, Mashhad, Iran
c Neonatal Research Center, Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
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Table 1. Results of biochemical tests.
Table 2. The white blood cell, hemoglobin, MCV and platelet counts process.
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Abstract

Osteopetrosis is a rare bone disease that occurs due to failure in bone resorption. Osteoclast dysfunction and persistent calcification of primary chondroids and bones are the cause of the disease. Osteopetrosis is a rare hereditary condition known as abnormal bone resorption. Considering the importance of prompt and timely diagnosis and follow-up and treatment with significant complications, we decided to report a case of neonatal osteopetrosis diagnosed 12h following admission to the neonatal intensive care unit of Imam Reza Hospital. The 7-day-old male neonate was hospitalised due to abdominal mass and thrombocytopenia. Hepatosplenomegaly and thrombocytopenia were diagnosed on examination and tests. Finally, the infant was referred to the neonatal intensive care unit of Imam Reza Hospital in Mashhad at 7 days of age for further evaluation. Chest X-ray taken as part of sepsis workup showed increased rib and arm bone density. A facial X-ray was taken, and eye sign detected for the diagnosis of osteopetrosis. In every neonate with hepatosplenomegaly, thrombocytopenia, and increased bone density, in addition to a neonatal sepsis workup, a facial X-ray should be taken initially to observe signs and confirm osteopetrosis.

Keywords:
Neonate
Thrombocytopenia
Eye sign
Osteopetrosis
Resumen

La osteopetrosis es una rara enfermedad ósea originada por una falla en la resorción ósea, debido a la disfunción de los osteoclastos y la calcificación persistente de condroides y huesos primarios. Se trata de una condición hereditaria rara, conocida como reabsorción ósea anormal. Considerando la importancia del diagnóstico rápido y oportuno y el seguimiento y tratamiento con complicaciones significativas, decidimos reportar un caso de osteopetrosis neonatal diagnosticado después de 12 horas de ingreso a la unidad de cuidados intensivos neonatales del Hospital Imam Reza. El neonato, de sexo masculino, de 7 días, fue hospitalizado por la presencia de una masa abdominal y trombocitopenia. En los exámenes se diagnosticó hepatoesplenomegalia y trombocitopenia. Finalmente, a los 7 días fue remitido a la Unidad de Cuidados Intensivos Neonatales del Hospital Imam Reza en Mashhad para una evaluación adicional. En la radiografía de tórax tomada dentro de un estudio de sepsis, se observó un aumento de la densidad de los huesos de las costillas y los brazos. Para el diagnóstico de la enfermedad de osteopetrosis, se tomó una radiografía de la cara y se detectaron signos oculares. En cada neonato con hepatoesplenomegalia, trombocitopenia y aumento de la densidad ósea, además del papel de la sepsis neonatal, en un primer momento se debe tomar una radiografía de la cara para observar signos y confirmar la osteopetrosis.

Palabras clave:
Neonatal
Trombocitopenia
Signo de ojo
Osteopetrosis

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