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A case report of dysosteosclerosis observed from the prenatal period. | LitMetric

A case report of dysosteosclerosis observed from the prenatal period.

Clin Pediatr Endocrinol

Department of Pediatrics, University of Yamanashi, Yamanashi, Japan ; Department of Pediatrics, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.

Published: July 2010

AI Article Synopsis

  • * A case study of a boy with dysosteosclerosis revealed brain calcification, epilepsy, and developmental delays, along with specific skeletal abnormalities.
  • * The boy's symptoms and radiological signs appeared during infancy, suggesting that prenatal brain calcification may be a key feature of the condition.

Article Abstract

Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of osteopetrosis. The disorder is associated with dental anomalies and occasionally mental retardation. Because of the rarity and phenotypic diversity of dysosteosclerosis, it remains unsolved whether or not the disorder is heterogeneous. We report here on an affected boy associated with brain calcification and epilepsy with developmental delay. Prenatal ultrasound revealed ventriculomegaly, and brain CT in the neonatal period showed periventricular calcifications. At 13 mo of age, he presented with generalized convulsion with developmental delay. Metaphyseal sclerosis, metaphyseal undermodeling, and oval-shaped vertebral bodies on skeletal survey warranted a diagnosis of dysosteosclerosis. Retrospective review of radiographs as a neonate showed metaphyseal radiolucency, but not metaphyseal sclerosis. Since then, neither the bone changes nor neurological symptom has progressively worsened up to 4 yr of age. Thus, it is thought that the clinical and radiological manifestations of the sclerotic disorder become obvious during infancy. Brain calcification of prenatal onset may be an essential syndromic constituent of the disorder.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687622PMC
http://dx.doi.org/10.1297/cpe.19.57DOI Listing

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