Article

Progressive Development of Chiari I Malformation in a Child with Trilateral Retinoblastoma and Acquired Growth Hormone Deficiency

Division of Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Pediatric Neurosurgery (Impact Factor: 0.5). 07/2012; 47(6):464-5. DOI: 10.1159/000339169
Source: PubMed

ABSTRACT No abstract available.

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    ABSTRACT: The authors report a case of three brothers. Two of these siblings presented with congenital growth hormone deficiency and Chiari I malformation. The third and younger brother has been found not to have growth hormone deficiency or the Chiari I malformation. Sparse cases of these two clinical occurrences have been reported. Further, the posterior cranial fossa has been determined to be altered in patients with Chiari I malformation and growth hormone deficiency. Our current case reports strengthen the association between these two pathological entities and are, to our knowledge, the first description of both defects in siblings.
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    ABSTRACT: Chiari I malformations (CMI) involve pathological hindbrain abnormalities reported to be correlated with a hypoplastic posterior fossa. CMI was traditionally characterized by the downward herniation of the cerebellar tonsils with a descent of 5 mm or more below the foramen magnum. The fullness of the cisterna magna and CSF flow at the level of the cervicomedullary junction have been shown to be more useful in selecting symptomatic patients for surgical decompression. The present study calculates posterior fossa dimension and volume estimates in pediatric patients using magnetic resonance imaging. The combination of neuroradiological and clinical findings is used to re-examine the criteria used for diagnosis and treatment of pediatric CMI patients. A retrospective chart review was conducted on patients who were admitted to the Division of Neurosurgery of the Children's hospital of Eastern Ontario between 1990 and 2007. Clinical and radiological assessments were performed on all patients. Posterior fossa volumes (PFV) and intracranial volumes (ICV) were measured from sagittal head magnetic resonance imaging scans using the Cavalieri method. Sixty-one CMI patients were identified. There were 32 male and 29 female patients with a mean age of 10 years (range: 8 weeks-18 years). Thirty-four (55%) of these patients were symptomatic with scoliosis (38%), suboccipital headaches (29%), and motor/sensory deficits (26%) being the most prominent symptoms. The mean PFV/ICV ratio for all the CMI patients (0.110) was found to be statistically smaller than that of the control patients (0.127, p=0.022). Mean PFV/ICV ratios for asymptomatic and symptomatic CMI patients were found to be similar for children aged 0-9 years (p=0.783) but different for children aged 10-18 years (p=0.018). Mean PFV values were found to be smaller in pediatric CMI patients than control patients; this complements earlier studies in adults and supports the present theory concerning the pathophysiological mechanism of CMI. Subtle morphometric differences among asymptomatic and symptomatic patients aged 0-9 years stress the importance of monitoring asymptomatic patients for the onset of symptoms in their adult years. Symptom development in CMI is likely multifactorial and is much more extensive than the degree of cerebellar tonsillar herniation.
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    ABSTRACT: The posterior fossa (PF) has been found to be small in various forms of Chiari malformation. Explanations involving a connection between growth hormone deficiency (GHD) and Chiari I malformation (CIM) have been proposed. However, to date, no quantitative analysis of the PF of patients with CIM and GHD has been performed. Our study was performed to determine the geometry of the PF in children with GHD and CIM. Morphometric analysis of the PF was performed in 10 children with GHD and CIM (group 1), 20 children with GHD and no CIM (group 2) and 50 controls. PF volumes for group 1 ranged from 128 to 259 +/- 33 ml, and for group 2, they ranged from 115 to 186.2 +/- 25.4 ml. Lengths of the foramen magnum for groups 1 and 2 had means of 36 and 38 mm, respectively. The mean basiocciput length and tentorial angle for groups 1 and 2 were 20 and 19 mm and 89 and 87.5 degrees, respectively. We have determined that children with GHD with or without CIM have no significant difference in their PF volume compared to controls. However, our data demonstrate significant underdevelopment of portions of the bony PF in both patients with GHD alone and in patients with GHD and CIM. Tentorial angles were elevated in noncontrol groups. We propose that this association is not due to an increased rate of 'midline' defects seen in GHD but rather a structurally distorted PF that is not capacious enough to house the entire developing rhombencephalon. These data will hopefully aid in the further understanding of the pathophysiology of CIM.
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