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. 2020 Jun 16;6(4):e446.
doi: 10.1212/NXG.0000000000000446. eCollection 2020 Aug.

Brainstem ischemic syndrome in juvenile NF2

John W Henson  1 , Tara Benkers  1 , Connor McCormick  1
Affiliations

Brainstem ischemic syndrome in juvenile NF2

John W Henson et al. Neurol Genet. .

Abstract

Objective: A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.

Methods: Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.

Results: Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features of NF2, typical inactivating NF2 alterations, biopsy showing necrosis without small vessel pathology, and subsequent aggressive NF2 lesion progression.

Conclusions: Brainstem ischemia in juvenile NF2 is a rare syndrome of unclear etiology, possibly reflecting an unknown underlying vascular abnormality; a digenic effect is not excluded.

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Figures

Figure 1
Figure 1. Radiographic features of the case
(A) Aggressive growth pattern of tumors. Note the enhancement in the left middle cerebellar peduncle on August 12, 2016, in the region of T2-weighted signal change. (B) T2 fluid attenuation inversion recovery changes across time. The earlier lesion in 2015 has enlarged and shows enhancement. Biopsy in this region showed necrosis but was negative for tumor or infection. (C) Time course of spreading ADC changes. The duration of depressed ADC is atypically long compared with the phasic pattern usually seen in acute stroke. ADC = apparent diffusion coefficient.
Figure 2
Figure 2. Vascular imaging
(A) Diameter of the basilar artery at mid pons. The maximal diameter of 3.9 mm did not meet the 4.5-mm threshold for dolichoectasia. The course of the basilar artery was midline. (B) Tip of the basilar artery. The basilar artery bifurcated at the level of the dorsum sellae and thus did not meet the criteria for elongation. Note the persistent right fetal posterior cerebral artery.
See this image and copyright information in PMC

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