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Título

Brainstem ischemic syndrome in juvenile neurofibromatosis type 2: case report

RESUMO

Case report: An 18-year-old male patient admitted to our hospital complaining of intense headache, with spontaneous relief after three days, evolving then with left hemiparesis that worsened during the first week and with posterior gradual improvement. Physical examination demonstrates left spastic hemiparesis with hyperreflexia and right third cranial nerve palsy (congenital). Ectoscopy showed multiple fibroelastic skin nodules and left crystalline lens opacity. Patient brought a magnetic resonance (MRI) (Jul-15, 2021) that showed a focus of T2/FLAIR and DWI hyperintense signal with reduced ADC values, contrast ring enhancement on T1 and SWI slight hypointense signal localized in right midbrain and pons measuring 2x2,5 cm indicating hemorrhagic-ischemic injury or neoplastic nature lesion (glioma). Subsequent MRI (Ago-06, 2021) showed extension of the lesion to right internal capsule persisting the same patterns of signal. Stroke mechanism was extensively investigated with no relevant findings. Because of the possibility of neoplastic nature of the lesion, patient underwent MR spectroscopy and perfusion (Oct-10, 2021) in which it was noticeable volume reduction of the initial lesion, persistent restricted diffusion in addition of multiples contrast enhanced nodules of cranial nerves and cervical roots. The spectroscopy study showed discreet increase of choline and lactate indicating ischemia. CBV perfusion MR values were normal. This set of findings may suggest the diagnosis of brainstem ischemic syndrome in juvenile neurofibromatosis type 2 (NF2).
Discussion: NF2 is an autosomal-dominant inherited tumor-prone disorder, predisposing the occurrence of meningiomas, ependymomas and specially schwannomas. Patients are also characterized by skin abnormalities, juvenile cataract, retinal hamartoma and scoliosis. Case series studies identified progressive brainstem ischemia as a rare presentation of NF2 occurring in young patients. These cases had no obvious reason for stroke like occlusion of a visible larger vessel, especially not in the vertebral or basilar arteries. Thus, a microvascular affection is the most likely cause and the midbrain/brainstem area seems to be the predilection site for these ischemic events in NF2.
Final considerations: We presented a case of progressive brainstem ischemia with persistent restricted diffusion on MRI after 3 months, representing a challenge diagnosis due to its rarity and differential diagnosis with neoplastic lesions.

Palavras Chave

Neurofibromatosis type 2, Stroke, Brainstem, Ischemic Syndrome, Juvenile, Cerebrovascular