Fig. 2.

Autopsy findings in a female infant with FOXRED1 related complex 1 deficiency presenting with neonatal lactic acidosis and cerebral cysts and pulmonary hypertension leading to exitus lethalis on 2.5 month of age. A) Electron microscopy of the quadriceps femoris shows abnormal mitochondria with increased size and whorled cristae (arrow); Light microscopy of the Pulmonary artery with Hematoxylin and Eosin stain shows B) (mag ×50) Pulmonary arterial hypertensive changes with medial hypertrophy and luminal narrowing in small arteries. Alveolar walls are thickened and there is alveolar simplification; C) (mag ×200) Pulmonary arterial hypertensive changes in small Pulmonary artery with medial hypertrophy, intimal hyperplasia and narrowing of the lumen.