Rare sonographic finding of osteogenesis imperfecta type 2

Fluid retention in the subarachnoid space

Keiko Kawamura, Yasuyuki Fujita, Kotaro Fukushima, Kiyoko Kato

Research output: Contribution to journalArticle

Abstract

Osteogenesis imperfecta (OI) type 2 is the most severe form of this osteogenetic disorder. A 26-year-old woman was referred to our hospital for suspected fetal hydrocephalus at 26 weeks' gestation. Detailed ultrasonographic examination revealed fluid retention in the subarachnoid space. The fetal head was expanded, and the skull bone was easily deformed by the pressure of the ultrasound probe. Pleural effusion and ascites were noted, and the upper and lower extremities were extremely shortened and deformed. On helical 3D-CT, the skull bones could not be imaged, and multiple rib fractures and deformed long bones were suspected. Based on these findings, the fetus was diagnosed with OI type 2, and it was explained to the patient and her family that this disease was fatal. Due to non-reassuring fetal status at 28 weeks, induced breech delivery resulted in a stillborn infant. The head of the infant was soft, and the upper and lower extremities were extremely shortened. Post-mortem radiography confirmed the presence of deformed long bones and ribs with multiple fractures, while the skull bones could not be imaged. Detailed ultrasound observation may detect cerebrospinal fluid retention in the subarachnoid space, a finding that may be associated with the membranous skull bones of this osteogenetic disorder.

Original languageEnglish
Pages (from-to)459-461
Number of pages3
JournalJournal of Medical Ultrasonics
Volume40
Issue number4
DOIs
Publication statusPublished - Oct 1 2013

Fingerprint

Osteogenesis Imperfecta
Subarachnoid Space
Skull
Bone and Bones
Lower Extremity
Head
Rib Fractures
Spiral Computed Tomography
Ribs
Pleural Effusion
Hydrocephalus
Ascites
Radiography
Cerebrospinal Fluid
Fetus
Observation
Pressure
Pregnancy

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging

Cite this

Rare sonographic finding of osteogenesis imperfecta type 2 : Fluid retention in the subarachnoid space. / Kawamura, Keiko; Fujita, Yasuyuki; Fukushima, Kotaro; Kato, Kiyoko.

In: Journal of Medical Ultrasonics, Vol. 40, No. 4, 01.10.2013, p. 459-461.

Research output: Contribution to journalArticle

Kawamura, Keiko ; Fujita, Yasuyuki ; Fukushima, Kotaro ; Kato, Kiyoko. / Rare sonographic finding of osteogenesis imperfecta type 2 : Fluid retention in the subarachnoid space. In: Journal of Medical Ultrasonics. 2013 ; Vol. 40, No. 4. pp. 459-461.
@article{7ea872cf76dc4880a44312e24829e774,
title = "Rare sonographic finding of osteogenesis imperfecta type 2: Fluid retention in the subarachnoid space",
abstract = "Osteogenesis imperfecta (OI) type 2 is the most severe form of this osteogenetic disorder. A 26-year-old woman was referred to our hospital for suspected fetal hydrocephalus at 26 weeks' gestation. Detailed ultrasonographic examination revealed fluid retention in the subarachnoid space. The fetal head was expanded, and the skull bone was easily deformed by the pressure of the ultrasound probe. Pleural effusion and ascites were noted, and the upper and lower extremities were extremely shortened and deformed. On helical 3D-CT, the skull bones could not be imaged, and multiple rib fractures and deformed long bones were suspected. Based on these findings, the fetus was diagnosed with OI type 2, and it was explained to the patient and her family that this disease was fatal. Due to non-reassuring fetal status at 28 weeks, induced breech delivery resulted in a stillborn infant. The head of the infant was soft, and the upper and lower extremities were extremely shortened. Post-mortem radiography confirmed the presence of deformed long bones and ribs with multiple fractures, while the skull bones could not be imaged. Detailed ultrasound observation may detect cerebrospinal fluid retention in the subarachnoid space, a finding that may be associated with the membranous skull bones of this osteogenetic disorder.",
author = "Keiko Kawamura and Yasuyuki Fujita and Kotaro Fukushima and Kiyoko Kato",
year = "2013",
month = "10",
day = "1",
doi = "10.1007/s10396-013-0436-5",
language = "English",
volume = "40",
pages = "459--461",
journal = "Japanese Journal of Medical Ultrasonics",
issn = "1344-1388",
publisher = "Springer Japan",
number = "4",

}

TY - JOUR

T1 - Rare sonographic finding of osteogenesis imperfecta type 2

T2 - Fluid retention in the subarachnoid space

AU - Kawamura, Keiko

AU - Fujita, Yasuyuki

AU - Fukushima, Kotaro

AU - Kato, Kiyoko

PY - 2013/10/1

Y1 - 2013/10/1

N2 - Osteogenesis imperfecta (OI) type 2 is the most severe form of this osteogenetic disorder. A 26-year-old woman was referred to our hospital for suspected fetal hydrocephalus at 26 weeks' gestation. Detailed ultrasonographic examination revealed fluid retention in the subarachnoid space. The fetal head was expanded, and the skull bone was easily deformed by the pressure of the ultrasound probe. Pleural effusion and ascites were noted, and the upper and lower extremities were extremely shortened and deformed. On helical 3D-CT, the skull bones could not be imaged, and multiple rib fractures and deformed long bones were suspected. Based on these findings, the fetus was diagnosed with OI type 2, and it was explained to the patient and her family that this disease was fatal. Due to non-reassuring fetal status at 28 weeks, induced breech delivery resulted in a stillborn infant. The head of the infant was soft, and the upper and lower extremities were extremely shortened. Post-mortem radiography confirmed the presence of deformed long bones and ribs with multiple fractures, while the skull bones could not be imaged. Detailed ultrasound observation may detect cerebrospinal fluid retention in the subarachnoid space, a finding that may be associated with the membranous skull bones of this osteogenetic disorder.

AB - Osteogenesis imperfecta (OI) type 2 is the most severe form of this osteogenetic disorder. A 26-year-old woman was referred to our hospital for suspected fetal hydrocephalus at 26 weeks' gestation. Detailed ultrasonographic examination revealed fluid retention in the subarachnoid space. The fetal head was expanded, and the skull bone was easily deformed by the pressure of the ultrasound probe. Pleural effusion and ascites were noted, and the upper and lower extremities were extremely shortened and deformed. On helical 3D-CT, the skull bones could not be imaged, and multiple rib fractures and deformed long bones were suspected. Based on these findings, the fetus was diagnosed with OI type 2, and it was explained to the patient and her family that this disease was fatal. Due to non-reassuring fetal status at 28 weeks, induced breech delivery resulted in a stillborn infant. The head of the infant was soft, and the upper and lower extremities were extremely shortened. Post-mortem radiography confirmed the presence of deformed long bones and ribs with multiple fractures, while the skull bones could not be imaged. Detailed ultrasound observation may detect cerebrospinal fluid retention in the subarachnoid space, a finding that may be associated with the membranous skull bones of this osteogenetic disorder.

UR - http://www.scopus.com/inward/record.url?scp=84886723723&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84886723723&partnerID=8YFLogxK

U2 - 10.1007/s10396-013-0436-5

DO - 10.1007/s10396-013-0436-5

M3 - Article

VL - 40

SP - 459

EP - 461

JO - Japanese Journal of Medical Ultrasonics

JF - Japanese Journal of Medical Ultrasonics

SN - 1344-1388

IS - 4

ER -