Fig. 1

Histochemical, cardiological and neuroradiological findings

Muscle biopsy studies performed in case 1. With the Oil red O (ORO), many fibers displayed lipid droplets (arrows) (a). The combine staining for oxidative enzymes showed several fibers COX negative and SDH strongly positive (arrows) (b). ECG performed at last examination in case 1 (25 years) (c) and in case 2 (17 years) (d): left ventricular hypertrophy signs were detected, including markedly high voltage R waves, non-ischemic ST segment alterations with negative T waves in lead I, inferior and left lateral leads, as well as positive or isodiphasic T wave in aVR. Cardiac MRI (1,5 Tesla) performed in case 1 at the age of 19 years showed normal myocardial appearance and signal intensity: STIR short axis (e), PSIR (Late Gadolinium Enhancement) (f) and Balanced Turbo Field-Echo (BTFE) cine 2 chamber left (g). Cardiac MRI performed in case 2 at the age of 16 years showed normal myocardial signal intensity: STIR short axis (h) and PSIR (Late Gadolinium Enhancement) (i). A hypertrabeculation of mid and apical segments partially ascribed to multihead papillary muscles attachment to the endocardial surface of LV free wall was noted: BTFE cine 2 chamber LV (l). Brain MRI, sagittal T1-weighted images of case 1, at the age of 22 (m), and case 2, at age of 12 (n), revealed marked thinning of the optic chiasm (arrowheads), hypoplasia of the anterior commissure (arrows), and mild inferior vermis hypoplasia (thick arrows)