PMC8313121_01
Brain MRI of the patient, performed at the age of 8 months. (A,B) Axial T2-weighted images: enlarged posterior horn of lateral ventricles with periventricular white matter thinning (A) and central tegmental tracts hyperintensity (white arrows). (C) Sagittal T1-weighted image and (D) Sagittal T2-DRIVE: Thinning of the corpus callosum and mild pons hypoplasia. No abnormalities recorded in the hypothalamic-pituitary axis.
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F1
To further investigate possible central nervous system abnormalities, when he was 8 months old, the boy underwent a brain Magnetic Resonance Imaging (MRI), which showed typical signs of hypoxic-ischemic encephalopathy, in association with a diffuse white matter myelination delay:more pronounced in both optic radiations:and pons hypoplasia (Figure 1).
Muscle biopsy performed at the age of 9 months. (A) Modified Gomori Trichrome staining showing round and small muscle fibers separated by increased connective tissue and containing several cytoplasmic vacuoles. (B) Non-specific esterase (NSE) staining displaying swelled NMJs.
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F2
In addition, using specific staining, we also detected enlargement and abnormality on the shape of the neuromuscular junctions (NMJ; Figure 2).