Neurosurgical Implications of Osteogenesis Imperfecta in a Child after Fall: Case Illustration.

ABSTRACT

Osteogenesis imperfecta (OI) is a group of hereditary genetic pathologies of connective tissue, which is characterized by bone fragility and fractures. It is classified into types I, II, III, IV, V, and VI. The disorder is caused by an autosomal-dominant mutation in one of the two genes that encode the alpha chains of type I collagen, COL1A1 and COL1A2. Several central nervous system abnormalities have been described in children with OI, however, it has been through various case reports. The neurological abnormalities that have been described are macrocephaly, ventriculomegaly, myelopathy, cranial neuropathy, basilar invagination, obstructive hydrocephalus, cranial fractures, and intracranial hemorrhage. In this report, we describe the clinical case of a child with parietal fracture; the main objective of this work being to show one of the several neurological implications that children with OI can present, and their implications for the pediatric neurosurgeons as neurosurgical complications are very frequent.