Brain sonography insight into the midbrain in myotonic dystrophy type 2.
Parole chiave
Astratto
BACKGROUND
The aim of this study was to analyze transcranial sonography (TCS) findings in genetically confirmed myotonic dystrophy type 2 (DM2) patients.
METHODS
Forty DM2 patients and 38 gender- and age-matched healthy controls (HCs) underwent TCS through the pre-auricular acoustic bone window.
RESULTS
Substantia nigra hyperechogenicity was found in 20% of DM2 patients compared with 3% of HCs. Brainstem raphe (BR) hypoechogenicity was more common in DM2 patients compared with HCs (56% vs. 10%, P < 0.01), and it was more common in patients with fatigue and excessive daytime sleepiness (P < 0.05). Diameter of the third ventricle was increased in DM2 patients compared with HCs (5.8 ± 1.7 vs. 5.1 ± 1.0 mm, P < 0.05).
CONCLUSIONS
Finding BR hypoechogenicity might have clinical implication because of the potential response to serotonin-reuptake inhibitors. TCS revealed alterations in brain structures previously not seen in MRI studies.
