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Rare Spinal Dysraphism in Type 2 Pfeiffer Rifat Wahab DO1,2, Shaun Wahab MD1, Sheena Saleem MD3, Deniz Altinok MD3. 1Department of Radiology, Michigan State University, East Lansing, MI; 2Department of Radiology, Henry Ford Wyandotte Hospital, Wyandotte , MI 3Department of Radiology, Children's Hospital of Michigan-DMC, Detroit, MI;

Introduction Imaging of Type 2 Imaging of Diastematomyelia in Type 2 Pfeiffer Syndrome Discussion (Continued)

Pfeiffer syndrome is a rare with multiple characteristic anomalies that Imaging work up of Pfeiffer patients includes plain films, CT, and brain have been attributed to mutations in the fibroblast growth factor receptor (FGFR) MR imaging during the first year of life. Routine spinal MR imaging is not 1 and FGFR 2 genes. The type 2 phenotype of Pfeiffer syndrome has been Fig. 1 typically performed and there have been no documented cases of described to have a Kleebattschädel , acquired (1), Kleebattschädel (cloverleaf) skull: diastematomyelia. However, plain film studies have been performed in severe ocular proptosis, elbow ankylosis, broad thumbs, and broad toes (2, 3, 3D CT reformatted images, Anterior evaluation of vertebral anomalies such as hypoplasia of neural arches, view (A) demonstrates fusion of the 4). We describe a case of a 6-year-old male with type 2 Pfeiffer syndrome who hemivertebrae, and butterfly vertebrae (10), which have an association with lateral coronal sutures (blue arrow) diastematomylia. This suggests that diastematomyelia may potentially be was found to have a rare closed spinal dysraphism of diastematomyelia (5) on and an abnormally widened sagittal MRI. The objective of our presentation is to review the natural history of Pfeiffer suture (black arrow).Superior view present in Pfeiffer syndrome. Just as craniosynosotosis and vertebral syndrome, the classic imaging features of type 2 Pfeiffer syndrome through a (B) demonstrates medial fusion of * * * * anomalies are thought to result from abnormal signaling pathways from the the (green arrow) FGFR gene mutation, this mutation may also be key in the development of pictorial review, and present the unique imaging findings of diastematomyelia in and fusion of the posterior sagittal the fibrous, cartilaginous, or bony septum in diastematomyelia due to its role Pfeiffer syndrome. suture (red arrow). Posterior view in the development of osseous and cartilaginous structures(11). (C), demonstrates posterior fusion of Fig 6. Diastematomyelia Pfeiffer Syndrome the (red arrow) with Type 1 (A) has a bony septum (brown) abnormal widening anteriorly (black separating the spinal cord (blue) into two Pfeiffer syndrome, also known as acrocephalosyndactyly type 5, is a rare genetic arrow) and lateral fusion of the hemicords contained in two distinct dural coronal sutures (blue arrow). disorder that was first described by RA Pfeiffer in 1964. This disease process is sacs (red). Type 2 (B) has a fibrous septum Lateral view (D), demonstrates characterized primarily by , broad thumbs, and large first toes. (green) separating the spinal cord (blue) into fusion of the lateral coronal suture Premature fusion of the lambdoid and coronal sutures, with occasional fusion of two hemidcords contained in a single dural (blue arrow). sac (red). the sagittal suture, (Fig.1) is seen in these patients. This disease process is on a Identification of diastematomylia early in a child’s life can have a significant spectrum with Aperts and Crouzen syndrome. impact on how they are managed. For example, the location of our patient’s Classification shunt was determined by the location of his disatematomylia. The advantage Cohen et al. (4) divided Pfeiffer syndrome into three types based on the severity of of surgical removal of the septum in diastematolmyelia is to prevent their phenotype (Table. 1). Type 2 has a relatively poor outcome with death in * * progressive spinal deformity and neurological deficits (9). * * Fig. 5 early infancy or childhood and has a sporadic inheritance pattern. The major Coronal T1 weighted MR image clinical findings associated with type 2 include a Kleebattschädel skull (Fig. 1), demonstrating a low intensity fibrous Conclusion severe ocular proptosis (Fig. 2), acquired Chiari I malformation, elbow ankylosis septum (red arrow) dividing the spinal Type 2 Pfeiffer syndrome is a rare genetic disorder caused by a mutation in (Fig. 3), broad thumbs, broad toes, and variable (2,3,4). cord into two hemicords. Each hemicord contains a the FGFR 2 gene. These patients undergo extensive imaging work up early Table . 1 Fig. 4 in life but do not routinely undergo spinal MR imaging. It is uncertain if T1 (A) and T2 (B) weighted MR images of the upper thoracic syringohydromyelia. Type Defining Characteristics Prognosis Inheritance diastematomyelia is a unique finding to this patient or if it is present in other spine and T1 (C) and T2 (D) weighted MR images of the mid 1 Normal Intelligence. Craniosynostosis (Coronal Good. Autosomal thoracic spine demonstrate two distinct hemicords separated by type 2 Pfeiffer syndrome patients and associated with the FGFR 2 gene Suture), midface deficiency, broad thumbs and toes. Normal life Dominate Fig. 2 Fig. 3 a fibrous septum (red arrow), contained in a single dural sac. mutation. This gene mutation may play a role in the development of the span Unenhanced axial CT images of the brain in Oblique (A) and Frontal (B) radiographs of the Each hemicord has a dilated central canal representing fibrous, cartilaginous, or osseous septum seen in diastematomyelia. Further 2 Intellectually challenged. Kleebattschädel Skull, broad Poor. Sporadic bone (A) and brain (B) windows demonstrates elbow demonstrate osseous fusion of the ulna syringohydromyelia (blue asterisk). studies could be performed to evaluate for a direct correlation (11). thumbs and toes, severe ocular proptosis, elbow Death in early shallow orbits with ocular proptosis. and humerus. Additionally, spinal MR imaging should be considered part of the imaging ankylosis, midface deficiency. childhood work up in these patients to initiate early intervention. 3 Intellectually challenged. Lack of Kleebattschädel Poor. Sporadic Clinical History Discussion skull. broad thumbs and toes, severe ocular proptosis, Death in early References elbow ankylosis, multiple natal teeth. childhood Our patient is a 6-year-old male with type 2 Pfeiffer syndrome who has done remarkably Spinal dysraphism is a broad term that encompasses congenital fusion anomalies of one or 1. Adrianna Ranger, MD; Ali Al-Hayek, MD; and Damir Matic, MD, MSc; Chiari Type I Malformation in an Infant with Type 2 Pfeiffer , Epidemiology, Management well given the poor prognosis associated with this condition. He was a full-term male Syndrome: Further Evidence of Acquired Pathogenesis. The Journal of , Vol. 21, Number 2, March 2010 more posterior midline structures including neural tissue, , vertebrae, skin, and 2. Astrid S. Plomp, Ben C.J. Hamel, Jan M. Cobben, Alain Verloes, Jos P.M. Offermans, Elisabeth Lajeunie, Jean Pierre Fryns, and Christine Approximately 1 in 100,000 births are affected by Pfeiffer syndrome. This genetic infant born at 39 weeks gestation after an unremarkable pregnancy. He was born with a E.M. de Die-Smulders; Pfeiffer Syndrome Type 2: Further Delineation and Review of Literature. American Journal of , subcutaneous tissue (5,8). When the neural tissue is covered by skin, it is termed a closed 75:245-251(1998) disease is caused by mutations in the FGFR 1 gene on chromosome 8p11.2-p11 Kleebattschädel skull, midface hypoplasia, and cervical spine vertebral body fusion. Our 3. Mark H. Moore, FRACS; Stephan B. Cantrell DDS, MD; James A. Trott, FRACS; David J. David, FRACS; Pfeiffer Syndrome: A Clinical spinal dysraphism like diastematomyelia. Diastematomyelia is defined as a congenital Review. Cleft Palate-Craniofacial Journal, Jan. 1995, Vol. 32 No. 1 and FGFR 2 gene on chromosome 10q26 (6). These genes play a key role in patient has undergone multiple cranial and facial reconstructive surgeries for palliation of 4. M. Micheal Cohen, Jr; Pfeiffer Syndrome Update, Clinical subtypes, and Guidelines for Differential Diagnosis. American Journal of closed spinal dysraphism where the spinal cord is divided by either a cartilaginous, bony, or Medical Genetics, 45:300-307(1993) signaling cells to mature or divide in response to the environment. These genes chronic problems such as and severe obstructive and central sleep 5. Chaitra A. Badve, Partiosh C. Khanna, Grace S. Phillips, Mahesh M. Thapa, Gisele E. Ishak; MRI of Closed Spinal Dysraphism. Pediatric fibrous septum (5). Two types of diastematomyelia have been described in the literature, Radiology (2011) 41:1308-1320 primarily affect cartilaginous and osseous structures. Mutations in these genes apnea. He was not born with a Chiari 1 malformation but did develop it by the time he 6. Annick Vogels; Jean- Pierre Fryns; Review: Pfeiffer Syndrome. Orphanet Journal of Rare , 2006 1:19 both having key distinguishing features. Type 1 diastematomyelia is present when the two 7. Moon Sung Park; Jae Eon Yoo; Jaiho Chung; Soo Han Yoon; A Case of Pfeiffer Syndrome. Journal of Korean Medical Science, 2006; 21: result in abnormal cell signaling, which is likely the cause of premature osseous was one-year-old, which is not uncommon in patients with craniosynostosis (1). In 374-378 hemicords each reside in their own dural sac and are commonly separated by a 8. Klaus Bruhl, Manfred Schwarz, Reinhard Schumacher, Annette Queisser-Luft, and Bernd Ludwig; Congenital Diastematomyelia in the fusion. Type 1 Pfeiffer syndrome can have a mutation on either of these genes, October of 2011, our patient began experiencing progressive lower extremity weakness. Upper Thoracic Spine. Diagnostic Comparison of CT, CT myelography, MRI, and US. Neurosurgery Review 13 (1990) 77-82 cartilaginous or bony septum (Fig.6). Other associated features commonly seen with type 1 9. Y. L. Leung, N. Buxton; Combined Diastematomyelia and Hemivertebra: A Review of the Management at a Single Center. The Journal while types 2 and 3 have a mutation in the FGFR 2 gene. He subsequently underwent MR imaging of the spine. A rare closed spinal dysraphism of of Bone and Joint Surgery diastematomyelia are hydromyelia, vertebral anomalies, and skin pigmentation (5,9). Type 2 10.Mark H. Moore, FRACS; Michelle L. Lodge, MBBS; Bruce E. Clark, FRCR; Spinal Anomalies in Pfeiffer Syndrome. Cleft Palate- diastematomyelia with an associated large syringohydromyelia in each hemicord was Craniofacial Journal, May 1995, Vol. 32 No. 3 diastematomylia is less severe in which both hemicords are contained in a single dural sac 11.Angeline H.M. Lai, Yuen-Ming Tan, Hai-Yang Law, Vincent K.L. Yeow; A Mutation in FGFR2 in a Child with Pfeiffer Syndrome and a These patients undergo multiple surgeries early in life for craniosynostosis and detected. A midline fibrous septum was observed at C7-T1 extending to T3 dividing an Sacral Appendage. Clinical Dysmorphology 2008, Vol.17, No. 1: 73-74 (Fig 6). Typically, a fibrous septum separates the cord in type 2 diastematomylia with 12.Peter J. Anderson, FRCS; Christine M. Hall, FRCR; Robert D. Evans, FDSRCS; Barry M. Jones, FRCS; William Harkness, FRCS; Richard D. midfacial hypoplasia correction. At 3-4 months of life, a synostotic suture release is expanded spinal cord into two hemicords. (Fig. 4, Fig. 5) Our patient had a Hayward, FRCS; Cervical Spine in Pfeiffer’s Syndrome. The Journal of Craniofacial Surgery, Vol. 7, Number 4 July 1996 vertebral anomalies and hydromyelia being less severe (5,9). Our patient has type 2 13.M.H. Moore, FRACS; A. Hanieh, FRACS; Hydrocephalus in Pfeiffer Syndrome. Journal of Clinical Neuroscience, Vol. 1, Number 3, 202- performed with a second stage surgery that advances the midface to prevent syringopleural shunt placed below the diastematomyelia to help decompress the 204, July 1994 diastematomylia with associated vertebral anomalies and syringohydromyelia. 14. Giuseppe Scotti, Mark A. Musgrave, Derek C. Harwood-Nash, Charles R. Fitz, Sylvester H. Chuang; Diastematomyelia in airway obstruction (6,7). syringohydromyelia which improved his symptoms. Children: Metrizamide and CT Metrizamide Myelography. AJR 135:1225 -1232, December 1980 POSTER TEMPLATES BY: www.POSTERPRESENTATIONS.com