Autosomal recessive osteopetrosis in Arab children
YASER KHALIL Abdel-AlIdd ShabaniM. M. LubaniM. A. Al-GhawabiMostafa IbrahimS. Al-MohtasebK. I. Duodin
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Abstract:
SummaryNineteen Arab children including six boys and 13 girls in ten sibships were diagnosed as having osteopetrosis over a 5-year period in various hospitals in Kuwait. Eighteen patients had an isolated autosomal recessive form and one had autosomal recessive osteopetrosis associated with renal tubular acidosis. The mean age of diagnosis was 24 months. Parental consanguinity was high amongst them (68%). Anaemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. Associated congenital abnormalities were found in 26%. Deafiiess, hydrocephalus and dental caries were relatively less common. A high mortality (37%) owing to infection was noted. The medical management and recommendations for patient care are discussed briefly.Keywords:
Osteopetrosis
Osteochondrodysplasia
The history of a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of phenotypic and perhaps genotypic heterogeneity in metabolic diseases.
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To describe the presentations, complications and to look at the subtypes of children with osteopetrosis.A case series.This study was conducted at the National Institute of Child Health (NICH) from July 2002 to December 2003.All children presenting as outpatients or inpatients with anemia, thrombocytopenia, and hepatosplenomegaly were evaluated. Those suspected of the disorder (n=126) were screened by X-rays of long bones.Eighteen children including 10 girls and 8 boys in 16 families were diagnosed as having osteopetrosis over a period of 18 months. Fifteen had isolated autosomal recessive osteopetrosis. The mean age at diagnosis was 33 months. Parental consanguinity was high (83.3%). Anemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. A high mortality (33.3%) owing to infection was noted.Osteopetrosis should be considered in children presenting with unexplained anemia and hepatosplenomegaly. Once diagnosed, these children should then be monitored for the complications that occur with high frequency in the disorder. Early diagnosis and treatment of the disorder improves the outcome.
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Abstract Severe osteopetrosis was diagnosed in utero in two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.
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Osteopetrosis is a rare disorder characterized by abnormal resorption and remodelling of bones owing to the defective osteoclastic activity. In some cases it may be asymptomatic and diagnosed accidentally. Here, we present such a case of osteopetrosis where we suspected the disease from the chest roentgenogram of the patient. Then the typical osteosclerotic changes in the skeletal survey of the patient confirmed our diagnosis of osteopetrosis. Key Words: Osteopetrosis, Osteoclasts, Bone resorption.
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