Autosomal recessive infantile osteopetrosis: case report with radiological review

Kalekar, Tushar; Sehrawat, Vipul

doi:10.18203/2320-6012.ijrms20172490

Cited by 3 publications

(3 citation statements)

References 4 publications

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“…This type has high severity compared to the above mentioned forms of osteopetrosis and is considered fatal if untreated. Generally it begins in utero and manifests during infancy or early childhood [3]. It is a rare disorder and affects 1 in 250,000 live births, with specifically high incidence recorded in Costa Rica (3.4:100000) [4].…”

Section: Introductionmentioning

confidence: 99%

“…Children with osteopertosis are at risk of having tetanic seizures due to hypocalcemia and secondary hyperparathyroidism. Continued bone formation and thickening interfere with medullary hematopoiesis which leads to bone marrow failure and compensatory extramedullary hematopoiesis occurs in various organs such as the spleen and liver, eventually resulting in hepatosplenomegaly, anemia, thrombocytopenia, granulocytopenia, and recurrent infections [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

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Malignant Infantile Osteopetrosis: A Case Report

Bubshait¹,

Fadaaq²,

Alshmas³

2020

Cureus

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Malignant Infantile Osteopetrosis: A Case Report

Bubshait¹,

Fadaaq²,

Alshmas³

2020

Cureus

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“…The incidence of these conditions is estimated about 1 in 250,000 live births for autosomal recessive osteopetrosis (ARO) and about 1 in 20,000 live births for autosomal dominant adult type (ADO) [3]. The disease is more frequently seen in ethnic groups where consanguinity is common [6]. Recent advances in genetics progressively allow the classification of osteopetrosis by its underlying molecular pathogenesis [5].…”

Section: Introductionmentioning

confidence: 99%

Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection

Katsafiloudi

Gombakis

Hatzipantelis

et al. 2020

Balkan Journal of Medical Genetics

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Osteopetrosis refers to a group of rare hereditary disorders characterized by generalized skeletal densification due to limited bone resorption by osteoclasts. The infantile autosomal recessive form represents the most malignant one with onset early in infancy and life expectancy less than 1-2 years without therapy. Frequently, osteopetrosis is complicated by rickets, a condition called osteopetrorickets. Currently, bone marrow transplantation remains the only treatment option. We present a case of infantile autosomal recessive osteopetrosis complicated by rickets in a 2 and a half-month-old female infant with coexistent congenital cytomegalovirus (CMV) infection, successfully treated by hematopoietic stem cell transplantation (HSCT). Diagnostic procedure and differential diagnosis are discussed along with a short review of the literature. Diagnosis of osteopetrosis requires high clinical suspicion, which is enhanced by radiology and confirmed by bone biopsy and molecular analysis. Our patient has been successfully treated by HSCT and has remained in a good general condition thereafter.

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Malignant Infantile Osteopetrosis: A Rare Genetic Disorder

Alsabbah,

Radaideh

et al. 2024

Dubai Med J

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Introduction: Osteopetrosis is a clinical syndrome characterized by impairment in the production or function of osteoclasts, leading to bone condensation. Symptoms and their onset depend on the disease’s hereditary pattern. Case Report: We report a 6-month-old female with dysmorphic features, failure to thrive, lymphadenopathy, hepatosplenomegaly, anemia, and thrombocytopenia. Born term by emergency lower cesarean section due to fetal distress, she was admitted into the neonatal intensive care unit (NICU) for 22 days. Complete blood count (CBC) showed hemoglobin (Hb) 13.6 g/dL, white blood cell (WBC) 14.3 × 10⁹/L, platelet 30 × 10⁹/L, manual 35 x 10⁹/L. At the age of 6 weeks, she was seen in a hematology clinic for thrombocytopenia where she was admitted for bone marrow aspiration. The sample was inadequate, and no megakaryocytes were seen. A skeletal survey was done, it showed evidence of diffuse osteosclerosis overlying the bones, mainly long bones of the upper and lower limbs as well as the metacarpals, metatarsals, and phalangeal bones of both hands and feet. Congenital osteopetrosis was suspected, thus parents opted for second medical advice in Germany where a molecular genetic test confirmed the diagnosis. Discussion: The patient presented with a wide range of symptoms, the diagnosis of osteopetrosis depends on skeletal radiology and is confirmed by the genetic test. Currently, hematopoietic stem cell transplantation (HSCT) is the only therapeutic intervention available causing it to be the sole opportunity for recovery; however, it cannot be used in all types of osteopetrosis. Conclusion: The approach to such cases must be comprehensive and must be done by a multidisciplinary team to address and manage the existing symptoms and complications.

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Autosomal recessive infantile osteopetrosis: case report with radiological review

Cited by 3 publications

References 4 publications

Malignant Infantile Osteopetrosis: A Case Report

Malignant Infantile Osteopetrosis: A Case Report

Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection

Malignant Infantile Osteopetrosis: A Rare Genetic Disorder

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