ABSTRACT
BACKGROUND: Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations. Temporal lobe dysplasia has been well described in thanatophoric dysplasia; however, only a couple of anecdotal cases of temporal lobe dysplasia in hypochondroplasia have been described. OBJECTIVE: To define temporal lobe abnormalities in patients with hypochondroplasia, given that they share the same genetic mutation. MATERIALS AND METHODS: We identified brain imaging studies of nine children with hypochondroplasia. The temporal lobes were assessed on CT and MRI for size and configuration of the temporal horn and aberrant sulcation of the inferior surface of the temporal lobe. RESULTS: All children had a triangular-shape temporal horn and deep transverse fissures of the inferior temporal lobe surface. Neuroimaging in our cohort revealed enlarged temporal lobes and oversulcation of the mesial temporal and occipital lobes, with abnormal inferomedial orientation of these redundant gyri. Hippocampal dysplasia was also universal. CONCLUSION: We confirmed frequent inferomesial temporal and occipital lobe abnormalities in our cohort of children with hypochondroplasia. Murine models with mutant fgfr3 display increased neuroprogenitor proliferation, cortical thickness and surface area in the temporo-occipital cortex. This is thought to result in excessive convolution and likely explains the imaging findings in this patient cohort. (Note that fgfr3 is the same genetic mutation in mice as FGFR3 is in humans.).
Subject(s)
Bone and Bones/abnormalities , Dwarfism/diagnosis , Dwarfism/genetics , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/genetics , Lordosis/diagnosis , Lordosis/genetics , Magnetic Resonance Imaging/methods , Occipital Lobe/pathology , Receptor, Fibroblast Growth Factor, Type 3/genetics , Temporal Lobe/pathology , Tomography, X-Ray Computed/methods , Adolescent , Child , Child, Preschool , Diagnosis, Differential , Female , Genetic Predisposition to Disease/genetics , Humans , Infant , Infant, Newborn , Male , Mutation/genetics , Occipital Lobe/diagnostic imaging , Reproducibility of Results , Sensitivity and Specificity , Temporal Lobe/diagnostic imagingABSTRACT
PURPOSE: Magnetic resonance cholangiopancreatography (MRCP) has now largely substituted endoscopic retrograde cholangiopancreatography (ERCP) in evaluating the biliary tree in adults giving its high sensitivity and specificity. Whilst smaller series published to date suggests this may be extrapolated to the paediatric population, its routine use in children is still debatable. The aim of our study is therefore to review the utility of MRCP in a large series of paediatric patients. METHODS AND MATERIALS: All MRCPs performed in our institution were examined for diagnostic quality, spectrum of diagnoses and correlation with direct cholangiography (DC) were available. Correlation with histopathology results and final clinical diagnosis was made in the subset of patients in whom a MRCP had been performed to evaluate the presence of primary sclerosing cholangitis (PSC). RESULTS: There were 245 MRCP examinations performed on 195 patients and 219 were diagnostic. There was 100% MRCP and DC concordance in the 16 cases where both had been performed. MRCP yielded a sensitivity of 89% in the subset of patients with PSC. CONCLUSION: MRCP was a valuable diagnostic tool in our paediatric population. Image quality is sufficiently diagnostic and shows good correlation with clinical diagnosis in conditions encountered in our population, including primary sclerosing cholangitis, post liver transplant biliary strictures, post surgical complications, dilated common bile ducts, choledochal cysts, cholelithiasis and choledocholithaisis.
Subject(s)
Cholangiopancreatography, Magnetic Resonance , Cholangitis, Sclerosing/diagnosis , Adolescent , Artifacts , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Male , Retrospective Studies , Sensitivity and SpecificityABSTRACT
PURPOSE: Debate remains regarding the utility of the traditional STIR (short inversion time recovery) sequence in aiding MRI diagnosis of spinal cord lesions in patients with multiple sclerosis (MS) and this sequence is not included in the current imaging guidelines. A recent study proposed a T1 weighted STIR as a superior alternative to the traditional STIR and T2 fast spin echo (FSE). Thus, the aim of this study was to compare the sensitivity of T2, standard STIR and T1 weighted STIR sequences in the evaluation of MS plaques on our 3 T system. METHODS AND MATERIALS: A retrospective analysis of patients with multiple sclerosis who presented to our institution over a period of 5 months and who had cervical cord lesions was undertaken. Patients had been examined with our institutional protocol which included T2 FSE, STIR and the recommended T1 STIR. Quantitative analysis of the lesions versus background cord using sample T-tests was performed for each sequence, and comparative analysis of the lesion contrast:background cord ratios of the 3 sequences (using two-way ANOVA tests) was performed. RESULTS: The T2 sequence was not as sensitive in detecting lesions versus the traditional STIR and T1 weighted STIR, with 10% of lesions not detected using statistical analysis (p<0.05). The traditional STIR also demonstrated greater contrast ratios than the T2 sequence (p<0.05) suggesting increased sensitivity. However, the T1 STIR demonstrated even greater contrast ratios than both the traditional STIR and T2 sequences (p<0.05). CONCLUSION: This study confirms earlier findings of the traditional STIRs increased sensitivity versus the T2 sequence. However, the new "T1 weighted STIR" appears to be even more sensitive than both these sequences showing potential promise as an alternative method to monitor demyelinating plaques of MS.