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7 October 2021, 1:24 pm
Neuhaus, E., Hattingen, E., Breuer, S., Steidl, E., Polomac, N., Rosenow, F., Rüber, T., Herrmann, E., Ecker, C., Kushan, L., Lin, A., Vajdi, A., Bearden, C. E., Jurcoane, A.
BACKGROUND AND PURPOSE:

MR imaging studies and neuropathologic findings in individuals with 22q11.2 deletion syndrome show anomalous early brain development. We aimed to retrospectively evaluate cerebral abnormalities, focusing on gray matter heterotopia, and to correlate these with subjects’ neuropsychiatric impairments.

MATERIALS AND METHODS:

Three raters assessed gray matter heterotopia and other morphologic brain abnormalities on 3D T1WI and T2*WI in 75 individuals with 22q11.2 deletion syndrome (27 females, 15.5 [SD, 7.4] years of age) and 53 controls (24 females, 12.6 [SD, 4.7] years of age). We examined the association among the groups’ most frequent morphologic findings, general cognitive performance, and comorbid neuropsychiatric conditions.

RESULTS:

Heterotopia in the white matter were the most frequent finding in individuals with 22q11.2 deletion syndrome (n = 29; controls, n = 0; between-group difference, P < .001), followed by cavum septi pellucidi and/or vergae (n = 20; controls, n = 0; P < .001), periventricular cysts (n = 10; controls, n = 0; P = .007), periventricular nodular heterotopia (n = 10; controls, n = 0; P = .007), and polymicrogyria (n = 3; controls, n = 0; P = .3). However, individuals with these morphologic brain abnormalities did not differ significantly from those without them in terms of general cognitive functioning and psychiatric comorbidities.

CONCLUSIONS:

Taken together, our findings, periventricular nodular heterotopia or heterotopia in the white matter (possibly related to interrupted Arc cells migration), persistent cavum septi pellucidi and/or vergae, and formation of periventricular cysts, give clues to the brain development disorder induced by the 22q11.2 deletion syndrome. There was no evidence that these morphologic findings were associated with differences in psychiatric or cognitive presentation of the 22q11.2 deletion syndrome.


30 September 2021, 3:08 pm
Bunch, P. M., Loevner, L. A., Bhala, R., Hepp, M. B., Hirsch, J. A., Johnson, M. H., Lyp, K. L., Quigley, E. P., Salamon, N., Jordan, J. E., Schwartz, E. S.

30 September 2021, 2:57 pm
Horvathy-Szocs, A., Liptai, Z., Dobner, S., Rudas, G., Barsi, P.
SUMMARY:

We observed a lesion pattern in a series of 4 cases of RANBP2-mutation–linked acute necrotizing encephalopathy, which appears to be specific for this condition. The setting of synchronous bilateral mammillary, amygdaloid, and lateral geniculate lesions, along with claustro-parahippocampal lesions, can serve as a diagnostic tool in this condition. We add several further details to the MR imaging features of the typical brain lesions encountered in this disease.


30 September 2021, 2:56 pm
Orman, G., Kralik, S. F., Desai, N. K., Meoded, A., Sangi-Haghpeykar, H., Jallo, G., Boltshauser, E., Huisman, T. A. G. M.
BACKGROUND AND PURPOSE:

Acute cerebellitis is an acute neurologic condition attributable to a recent or concurrent infection or a recent vaccination or ingestion of medication, with MR imaging evidence of cerebellar edema. MR imaging can confirm an anatomic abnormality and may allow the radiologist to establish a differential diagnosis. The purpose of this research was to evaluate the MR imaging findings in children with acute cerebellitis due to infectious versus immune-related conditions, in particular whether MR imaging findings allow differentiation.

MATERIALS AND METHODS:

Electronic medical records were reviewed between 2003 and 2020 in our quaternary children’s hospital. Data included demographics and clinical records: presentation/symptoms, final diagnosis including acute cerebellitis and immune-related acute cerebellitis, length of stay, treatment, condition at discharge, and laboratory findings. Retrospective independent review of all brain MR imaging studies was performed.

RESULTS:

Forty-three patients (male/female ratio, 28:15) were included in this study. Average age at presentation was 7.08 years (range, 0.05–17.52 years). Thirty-five children had infectious and 8 children had immune-related acute cerebellitis. Significant differences in neuroimaging were the following: 1) T2-FLAIR hyperintense signal in the brainstem (37.50% versus 2.85%, P = .016); 2) T2-FLAIR hyperintense signal in the supratentorial brain higher in the immune-related group (37.50% versus 0.00%, P = .004); and 3) downward herniation, higher in the infectious acute cerebellitis group (42.85% versus 0.00%, P = .03).

CONCLUSIONS:

Acute cerebellitis is a rare condition, and MR imaging is helpful in the differential diagnosis. T2-FLAIR hyperintense signal in the brainstem and supratentorial brain may be indicative of immune-related acute cerebellitis, and downward herniation may be indicative of infectious acute cerebellitis.


30 September 2021, 2:55 pm
Shekhrajka, N., Shatzkes, D. R., Dean, K. E., Smithgall, M. C., Moonis, G.
SUMMARY:

A handful of cases of protuberant fibro-osseous lesions of the temporal bones have been described in the literature to date, with primary focus on the pathologic features. Here we review 3 cases of pathology-proved protuberant fibro-osseous lesions of the temporal bone and include a literature review with a focus on the imaging features. While rare, these lesions have near-pathognomonic imaging features defined by a location at the cortex of the outer table of the temporal bone at the occipitomastoid suture, lack of involvement of the underlying marrow, variable mineralization, and MR signal characteristics atypical of a chondroid lesion. One case in this series was FDG-avid and had occasional mitotic features, possibly reflecting an aggressive variant. Neuroradiologists should be familiar with this benign diagnosis to aid in timely identification and avoid unnecessary additional imaging.


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