Abstract
Osteogenesis imperfecta (OI) is a generalised disorder of connective tissue presenting with fragile bones, blue sclera and early deafness. Hydrocephalus is usually associated with type 2 OI. Here we present a rare case of noncommunicating hydrocephalus and patent foramen ovale in type 3 OI. DOI: http://dx.doi.org/10.3126/jnps.v33i1.6692 J Nepal Paediatr Soc. 2013;33(1):63-65
Highlights
Osteogenesis imperfecta (OI) or Brittle bone disease, the most common genetic cause of osteoporosis, is caused by structural or quantitative defect in type 1 collagen
Osteogenesis imperfecta (OI) is a generalised disorder of connective tissue presenting with fragile bones, blue sclera and early deafness
OI has a triad of fragile bone, blue sclera and early deafness[1]
Summary
Osteogenesis imperfecta (OI) or Brittle bone disease, the most common genetic cause of osteoporosis, is caused by structural or quantitative defect in type 1 collagen. We present a case of type 3 OI with noncommunicating hydrocephalus and patent foramen ovale. Eye examination showed blue discolouration of the sclera. The baby was initially managed with IV antibiotics due to suspected sepsis that was later omitted after the negative reports on culture & CSF analysis. D supplementation and the femur fractures were managed by the orthopaedic surgeon. He is on regular follow up for any increase in head circumference that might need neurosurgical intervention in the future.
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