Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs

• Published in: Pediatric radiology Vol. 28; no. 11; pp. 856 - 858
• Main Authors: NISHIMURA, G, KUROSAWA, K, KOBAYASHI, H, KAWAME, H
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01-11-1998; Springer Nature B.V
• Subjects: Basal Ganglia Diseases - diagnostic imaging; Biological and medical sciences; Bone and Bones - diagnostic imaging; Child; Diagnosis, Differential; Diseases of the osteoarticular system; Face - abnormalities; Female; Fractures, Spontaneous - diagnostic imaging; Humans; Intellectual Disability - diagnostic imaging; Medical sciences; Miscellaneous. Osteoarticular involvement in other diseases; Osteogenesis Imperfecta - diagnostic imaging; Radiography; Syndrome; Human; Nervous system diseases; Diseases of the osteoarticular system; Bone disease; Developmental disorder; Mental retardation; Differential diagnostic; Cerebral disorder; Genetic disease; Case study; Osteoporosis; Central nervous system disease; Intellectual deficiency; Osteogenesis imperfecta; Osteochondrodysplasia; Child; Extrapyramidal syndrome
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/s002470050482

We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract signs and minor facial abnormalities. Generalised osteoporosis with overtubulation of long bones was similar to that of osteogenesis imperfecta (OI). However, the short tubular bones were distinctively undertubulated and wormian bones were not found. Based on clinical, laboratory and neuroradiological examinations, it was less likely that bone fragility was attributable to disuse bone atrophy related to her physical handicap and the neurological abnormalities secondary to brain insult. She is presumed to have a previously undescribed OI-like syndrome.