Infantile osteopetrosis with superimposed rickets

Gönen, Korcan Aysun; Yazıcı, Zeynep; Gökalp, Gökhan; Uçar, Adem

doi:10.1007/s00247-012-2511-2

Cited by 20 publications

(9 citation statements)

References 9 publications

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“…Our child had typical osseous and dental features of MIOP, i.e., frontal bossing, flattened malar eminence, deviation of the mouth to the left side, and malformed teeth with dental caries. Rickets has also been observed as a common complication of MIOP [10]. Signs of vitamin D deficiency, such as the rachitic rosary and bowed legs, were also observed in our case.…”

Section: Discussionsupporting

confidence: 68%

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Ali

Arif

Khan

et al. 2020

Cureus

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Section: Discussionsupporting

confidence: 68%

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Ali

Arif

Khan

et al. 2020

Cureus

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“…Osteopetrosis seems to be related to defects in the acidification process of resorption lacuna, mainly caused by mutations in the TCIRG1, CLCN7 and CAII genes coding for a 3-subunit of proton pump, chloride channel and carbonic anydrase II, respectively. Mutation in the TCIRG1 or CLCN7 gene is found in nearly 70.0% of all patients with autosomal recessive osteopetrosis [4,8]. The TCIRG1 gene mutation was also detected in our patient.…”

Section: Discussionsupporting

confidence: 60%

“…Since then many types of the disease have been identified, and in 1963, Harry Mullins Worth, a British radiologist (born in 1897) who graduated with degrees in dentistry and medicine, and worked in the UK as well as Canada, introduced the term osteopetrosis (from the Greek "osteo" meaning bone and "petros" meaning stone) because of the rock-like appearance of the bone [2,3]. Osteopetrosis has for decades been categorized by its clinical severity and inheritance pattern into a malignant infantile autosomal recessive form, an intermediate autosomal recessive form and an adult autosomal dominant form, which is the most benign type, frequently identified incidentally [4,5]. 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].…”

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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“…Children with MIOP are at risk of developing hypocalcaemia, with attendant tetanic seizures and secondary hyperparathyroidism[1 4, 5]. Rickets has been also observed as a complication of MIOP [13]. The above patient showed hypocalcaemia and rickets.…”

Section: Discussionmentioning

confidence: 99%

Malignant infantile osteopetrosis: case report with review of literature

Essabar¹,

Meskini²,

Ettair³

et al. 2014

Pan Afr Med J

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Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic examination showed hepatosplenomegaly, growth failure, developmental milestones delay, and rickets features. Ophthalmic exam yielded bilateral optic atrophy. Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed hydrocephalus. Histological examination showed hypoplastic bone marrow and extra-medullary hematopoeisis. Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the TCIRG1 gene. The patient received supportive treatment. He died from an acute respiratory distress. MIOP should be kept in mind as a rare cause of hepatosplenomegaly. Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease.

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Infantile osteopetrosis with superimposed rickets

Abstract: Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

Cited by 20 publications

References 9 publications

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage

Osteopetrorickets in an infant with coexistent congenital cytomegalovirus infection

Malignant infantile osteopetrosis: case report with review of literature

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