PMID- 25491728
OWN - NLM
STAT- MEDLINE
DCOM- 20151013
LR  - 20220408
IS  - 1471-2431 (Electronic)
IS  - 1471-2431 (Linking)
VI  - 14
DP  - 2014 Dec 10
TI  - Abnormal movements associated with oropharyngeal dysfunction in a child with 
      Chiari I malformation.
PG  - 294
LID - 10.1186/s12887-014-0294-3 [doi]
LID - 1174
AB  - BACKGROUND: Chiari I malformations (CM I) are rare hindbrain herniations. 
      Dysphagia and other oropharyngeal dysfunctions may be associated with CM I, but 
      to our knowledge, no clinical presentation similar to ours has ever been 
      reported. The purpose of this communication is to draw attention to a unique and 
      atypical clinical presentation of a child with CM I. CASE PRESENTATION: A 
      7-year-old boy was evaluated for a two month history of atypical movements which 
      would occur in the evening, and last for an hour after eating. These 
      stereotypical movements with the head and chest bending forward and to the left 
      side, accompanied by a grimace, were associated with sensation of breath locking 
      without cyanosis. Pain and dysphagia were absent. The neurological examination 
      was normal. The possibility of Sandifer syndrome posturing occurring with 
      gastroesophageal reflux disease was considered but neither pain nor back 
      hyperextension were associated with the atypical movements. Neither proton pump 
      inhibitors (PPI) nor prokinetic agents improved his symptoms. Upper endoscopy and 
      esophageal biopsy did not reveal eosinophilic esophagitis nor reflux esophagitis. 
      Ear, throat and nose (ENT) exam was normal. A severe gastroparesis was 
      demonstrated on milk scan study. Two 24 hour oesophageal pH probe studies pointed 
      out severe gastroesophageal reflux (GER). High resolution manometric evaluation 
      of the oesophagus revealed normal sphincter pressures and relaxations with no 
      dysmotility of the esophageal body. Electroencephalography and polysomnography 
      were normal. A brain magnetic resonance imaging (MRI) was performed and revealed 
      a CM I: cerebellar tonsils extending to 12 mm, with syringomyelia (D4-D5). For a 
      long period of time, the child's abnormal movements were considered to be nothing 
      but tics and the CM I a fortuitous finding. Since the child remained symptomatic 
      despite medical treatment, it was decided to proceed with surgery. One year after 
      the onset of his symptoms, he underwent posterior fossa decompression with upper 
      cervical laminectomy and expansion duroplasty. Postoperative MRI confirmed 
      adequate decompression. His atypical posture and dyspnea completely resolved 
      after surgery and he remains asymptomatic two years later. CONCLUSION: Children 
      may have atypical presentations of CM I. Thus, CM I diagnosis should be 
      considered in unexplained atypical oropharyngeal dysfunctions.
FAU - Berthet, Stephanie
AU  - Berthet S
AD  - Department of Pediatric Gastroenterology Hepatology and Nutrition, CHU Sainte 
      Justine, University of Montreal, Montreal, QC, Canada. 
      stephanie.berthet@umontreal.ca.
FAU - Crevier, Louis
AU  - Crevier L
AD  - Department of Pediatric Neurosurgery, CHU Sainte Justine, University of Montreal, 
      Montreal, QC, Canada. louis.crevier.hsj@ssss.gouv.qc.ca.
FAU - Deslandres, Colette
AU  - Deslandres C
AD  - Department of Pediatric Gastroenterology Hepatology and Nutrition, CHU Sainte 
      Justine, University of Montreal, Montreal, QC, Canada. 
      colette.deslandres@umontreal.ca.
AD  - CHU Sainte Justine, 3175, Cote Sainte Catherine, H3T1C5, Montreal, QC, Canada. 
      colette.deslandres@umontreal.ca.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20141210
PL  - England
TA  - BMC Pediatr
JT  - BMC pediatrics
JID - 100967804
SB  - IM
MH  - Arnold-Chiari Malformation/diagnosis/*physiopathology/surgery
MH  - Cervical Vertebrae/surgery
MH  - Child
MH  - Decompression, Surgical
MH  - Deglutition Disorders/etiology
MH  - Dura Mater/surgery
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Movement Disorders/*etiology/physiopathology
MH  - Oropharynx/*physiopathology
MH  - Posture/physiology
MH  - Treatment Outcome
PMC - PMC4279813
EDAT- 2014/12/11 06:00
MHDA- 2015/10/16 06:00
PMCR- 2014/12/10
CRDT- 2014/12/11 06:00
PHST- 2014/05/07 00:00 [received]
PHST- 2014/11/11 00:00 [accepted]
PHST- 2014/12/11 06:00 [entrez]
PHST- 2014/12/11 06:00 [pubmed]
PHST- 2015/10/16 06:00 [medline]
PHST- 2014/12/10 00:00 [pmc-release]
AID - s12887-014-0294-3 [pii]
AID - 294 [pii]
AID - 10.1186/s12887-014-0294-3 [doi]
PST - epublish
SO  - BMC Pediatr. 2014 Dec 10;14:294. doi: 10.1186/s12887-014-0294-3.