Search

Krabbe disease is a progressive neurologic disorder caused by deficiency of the lysosomal enzyme galactocerebrosidase. The disease commonly has an early-infantile onset, but can have late-infantile, juvenile, or adult-onset phenotypes. Classic computed tomography (CT) and magnetic resonance imaging (MRI) findings in Krabbe have been well described. We report a patient, ultimately diagnosed with juvenile-onset Krabbe, who presented with atypical CT imaging and rapid disease progression. Our patient was a previously healthy and developmentally appropriate female who presented at 3 years 4 months of age with ataxia and motor regression that had progressed over the course of 6 weeks without an identifiable catalyst. CT, performed in the emergency setting, demonstrated extensive white matter hyperdensity. Subsequent MRI showed T2 hyperintensity of the white matter corresponding to the areas of hyperdensity on the CT, as well as enhancement of multiple cranial nerves bilaterally, suggestive of Krabbe disease. Enzymatic testing demonstrated low galactocerebrosidase activity and molecular testing of GALC revealed compound heterozygosity for 2 known pathogenic mutations, consistent with a diagnosis of Krabbe Disease. This included the common 30-kb deletion and a known pathogenic mutation associated with juvenile/adult-onset disease. Our patient's diffuse hyperdensity on CT offers a new radiographic finding to include in the repertoire of Krabbe imaging, and thus aide in the diagnostic evaluation. The rapidity of progression our patient demonstrated is additionally unique and should be considered in the identification of juvenile Krabbe as well as the complicated decision-making process regarding potential treatments.

Purpose To determine whether repeated exposure of the pediatric brain to a linear gadolinium-based contrast agent (GBCA) is associated with an increase in signal intensity (SI) relative to that in GBCA-naive control subjects at unenhanced T1-weighted magnetic resonance (MR) imaging. Materials and Methods This single-center, retrospective study was approved by the institutional review board and compliant with HIPAA. The authors evaluated 46 pediatric patients who had undergone at least three GBCA-enhanced MR examinations (30 patients for two-group analysis and 16 for pre- and post-GBCA exposure comparisons) and 57 age-matched GBCA-naive control subjects. The SI in the globus pallidus, thalamus, dentate nucleus, and pons was measured at unenhanced T1-weighted MR imaging. Globus pallidus-thalamus and dentate nucleus-pons SI ratios were calculated and compared between groups and relative to total cumulative gadolinium dose, age, sex, and number of and mean time between GBCA-enhanced examinations. Analysis included the Wilcoxon signed rank test, Wilcoxon rank sum test, and Spearman correlation coefficient. Results Patients who underwent multiple GBCA-enhanced examinations had increased SI ratios within the dentate nucleus (mean SI ratio ± standard error of the mean for two-group comparison: 1.007 ± 0.0058 for GBCA-naive group and 1.046 ± 0.0060 for GBCA-exposed group [P < .001]; mean SI ratio for pre- and post-GBCA comparison: 0.995 ± 0.0062 for pre-GBCA group and 1.035 ± 0.0063 for post-GBCA group [P < .001]) but not the globus pallidus (mean SI ratio for two-group comparison: 1.131 ± 0.0070 for GBCA-naive group and 1.014 ± 0.0091 for GBCA-exposed group [P = .21]; mean SI ratio for pre- and post-GBCA comparison: 1.068 ± 0.0094 for pre-GBCA group and 1.093 ± 0.0134 for post-GBCA group [P = .12]). There was a significant correlation between dentate nucleus SI and total cumulative gadolinium dose (r = 0.4; 95% confidence interval [CI]: 0.03, 0.67; P = .03), but not between dentate nucleus SI and patient age (r = 0.23; 95% CI: -0.15, 0.56; P = .22), sex (mean SI ratio: 1.046 ± 0.0072 for boys and 1.045 ± 0.0110 for girls; P = .88), number of contrast-enhanced examinations (r = 0.13; 95% CI: -0.25, 0.48; P = .49), or time between contrast-enhanced examinations (r = -0.06; 95% CI: -0.42, 0.32; P = .75). Conclusion SI in the pediatric brain increases on unenhanced T1-weighted MR images with repeated exposure to a linear GBCA. © RSNA, 2016.

Objective: We aimed to determine if T2‐weighted hyperintense white matter lesions (WMLs) on brain magnetic resonance imaging (MRI) occur more frequently in pediatric patients with migraine and other primary headache disorders compared to the general pediatric population. Background: Small foci of T2 hyperintensity in the white matter are frequently identified on brain MRI during the workup of pediatric headache. Such lesions have been reported to be more common among adults with migraine versus adults without migraine; however, this association has not been well established in the pediatric population. Methods: We performed a retrospective cross‐sectional single‐center study of electronic medical records and radiologic studies, examining pediatric patients from 3 to 18 years old who underwent brain MRI between 2016 and 2021. Patients with existing intracranial disease or abnormalities were excluded. Patients with reports of headache were categorized. Imaging was reviewed to determine the number and location of WMLs. Headache‐associated disability scores (Pediatric Migraine Disability Assessment) were noted, when available. Results: Brain MRI of 248 patients with a diagnosis of headache (144 with migraine, 42 with non‐migraine primary headache, and 62 with headache that could not be further classified) and 490 controls were reviewed. WMLs were encountered commonly among all study participants, with a prevalence of 40.5% (17/42) to 54.1% (265/490). There was no statistically significant difference comparing the number of lesions between each of the headache groups and the control group: migraine group versus control group median [interquartile range (IQR)], 0 [0–3] versus 1 [0–4], incidence rate ratio [95% confidence interval (CI)], 0.99 [0.69–1.44], p = 0.989, non‐migraine headache group versus control group median [IQR], 0 [0–3] versus 1 [0–4], 0.71 [0.46–1.31], p = 0.156, headache not otherwise specified group versus control group median [IQR], 0 [0–4] versus 1 [0–4], 0.77 [0.45–1.31], p = 0.291. There was no significant correlation between headache‐associated disability and the number of WMLs (0.07 [−0.30 to 0.17], rho [95% CI]). Conclusion: T2 hyperintense WMLs are common within the pediatric population and are not encountered more frequently in pediatric patients with migraine or other primary headache disorders. Thus, such lesions are presumably incidental and unlikely related to headache history. [ABSTRACT FROM AUTHOR]

Background Several enteroviruses (EVs), including EV-A71 and EV-D68, have been associated with acute flaccid myelitis (AFM). Clinical features distinguishing AFM presentations associated with specific EV types are not well described. Methods EV-associated AFM was defined as any child presenting to Children's Hospital Colorado in 2013–2018 who met the Council of State and Territorial Epidemiologists definition for confirmed AFM (flaccid limb weakness with longitudinal gray-matter-predominant spinal cord lesion on MRI) and had EV-A71 or EV-D68 identified in any biologic specimen (cerebrospinal fluid [CSF], nasopharyngeal [NP], oropharyngeal [OP], rectal) by VP1-specific RT-PCR and sequencing. Summative limb strength scores (SLSS) were calculated by adding Medical Research Council strength scores (1–5) for all limbs. Results Ten cases of EV-A71-associated AFM were identified, all from 2018; 8 cases of EV-D68-associated AFM were identified from 2013 (1), 2014 (4), 2016 (1), and 2018 (2) [Table 1]. Viral detection rates were higher in rectal and OP swabs in EV-A71 cases and NP specimens in EV-D68 cases. Virus was not detected in CSF of EV-D68 cases and in 1 EV-A71 case. EV-A71 cases were younger (median 19 vs. 100 months) and had neurologic onset earlier after prodromal symptom onset (median 1 vs. 5.5 days) than EV-D68 cases. Hand, foot, and/or mouth lesions distinguished EV-A71 cases, whereas respiratory symptoms were uniformly noted in EV-D68 cases. Associated neurologic findings more commonly associated with EV-A71 cases than EV-D68 cases included irritability, myoclonus, and ataxia. Weakness was more generalized with EV-A71 and more asymmetric with EV-D68, though patterns of brainstem and spinal cord involvement on MRI were similar. Compared with EV-D68, EV-A71 cases had milder weakness at onset and improved strength at 1- to 2-month follow-up (Figure 1), shorter length of stay (median 5.5 vs. 32 days) and a greater rate of full neurologic recovery (90% vs. 13%). Conclusion EV-D68 and EV-A71 are both associated with AFM with similar MRI findings, but cases can be distinguished by associated prodromal symptoms, neurologic findings, and outcomes. Timely collection and testing of nonsterile site specimens, particularly NP for EV-D68 and OP and rectal for EV-A71, are key to case identification. Disclosures All Authors: No reported Disclosures. [ABSTRACT FROM AUTHOR]

Background: Use of magnetic resonance imaging (MRI) as a tool to aid in neuroprognostication after cardiac arrest (CA) has been described, yet details of specific indications, timing, and sequences are unknown. We aim to define the current practices in use of brain MRI in prognostication after pediatric CA.Methods: A survey was distributed to pediatric institutions participating in three international studies. Survey questions related to center demographics, clinical practice patterns of MRI after CA, neuroimaging resources, and details regarding MRI decision support.Results: Response rate was 31% (44 of 143). Thirty-four percent (15 of 44) of centers have a clinical pathway informing the use of MRI after CA. Fifty percent (22 of 44) of respondents reported that an MRI is obtained in nearly all patients with CA, and 32% (14 of 44) obtain an MRI in those who do not return to baseline neurological status. Poor neurological examination was reported as the most common factor (91% [40 of 44]) determining the timing of the MRI. Conventional sequences (T1, T2, fluid-attenuated inversion recovery, and diffusion-weighted imaging/apparent diffusion coefficient) are routinely used at greater than 97% of centers. Use of advanced imaging techniques (magnetic resonance spectroscopy, diffusion tensor imaging, and functional MRI) were reported by less than half of centers.Conclusions: Conventional brain MRI is a common practice for prognostication after CA. Advanced imaging techniques are used infrequently. The lack of standardized clinical pathways and variability in reported practices support a need for higher-quality evidence regarding the indications, timing, and acquisition protocols of clinical MRI studies. [ABSTRACT FROM AUTHOR]