Pierre-Robin syndrome associated with Chiari type I malformation

Jangbo Lee; Kazutoshi Hida; Toshitaka Seki; Jun Kitamura; Yosinubo Iwasaki

doi:10.1007/s00381-003-0740-2

Pierre-Robin syndrome associated with Chiari type I malformation

Jangbo Lee, Kazutoshi Hida, Toshitaka Seki, Jun Kitamura, Yosinubo Iwasaki

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

Case Report: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. Result and Conclusion: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.

Original language	English
Pages (from-to)	380-383
Number of pages	4
Journal	Child's Nervous System
Volume	19
Issue number	5-6
DOIs	https://doi.org/10.1007/s00381-003-0740-2
Publication status	Published - 2003 Jun 1
Externally published	Yes

Keywords

Chiari malformation
Embryogenesis
Foramen magnum decompression
MRI
PRS
Pierre-Robin syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1007/s00381-003-0740-2

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title = "Pierre-Robin syndrome associated with Chiari type I malformation",

abstract = "Case Report: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. Result and Conclusion: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.",

keywords = "Chiari malformation, Embryogenesis, Foramen magnum decompression, MRI, PRS, Pierre-Robin syndrome",

author = "Jangbo Lee and Kazutoshi Hida and Toshitaka Seki and Jun Kitamura and Yosinubo Iwasaki",

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doi = "10.1007/s00381-003-0740-2",

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T1 - Pierre-Robin syndrome associated with Chiari type I malformation

AU - Lee, Jangbo

AU - Hida, Kazutoshi

AU - Seki, Toshitaka

AU - Kitamura, Jun

AU - Iwasaki, Yosinubo

PY - 2003/6/1

Y1 - 2003/6/1

N2 - Case Report: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. Result and Conclusion: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.

AB - Case Report: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation. Result and Conclusion: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.

KW - Chiari malformation

KW - Embryogenesis

KW - Foramen magnum decompression

KW - MRI

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KW - Pierre-Robin syndrome

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Pierre-Robin syndrome associated with Chiari type I malformation

Abstract

Keywords

ASJC Scopus subject areas

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