case_images: PMC6558532_01
case_images: PMC6558532_02
case_images: The child, 12 years old, was thin and weak and presented flat feet and
  short fingers with weak extensor indicis and carpi ulnaris muscles.
case_images: 10.1177_1756286419850433-fig1.jpg
case_images: PMC6558532_02_10.1177_1756286419850433-fig1.jpg
case_images: fig1-1756286419850433
case_images: He was not able to stand from the floor and was unable to lift legs from the bed. He appeared thin, frail and weak (Figure 1A-C).
case_images: Muscle biopsy of patient 2 shows diffuse fibre atrophy and some central
  nuclei with haematoxylin-eosin stain (A). Acid ATPase (pH 4) shows 92%
  type 1 fibre predominance (B). Nicotinamide adenine dinucleotide
  tetrazolium reductase (NADH-TR) showed abnormal nuclei and mitochondrial
  accumulation (C), periodic acid-Schiff (PAS) stain shows deposit of
  glycogen localized in some fibres (D). Ultrastructural analysis shows
  atrophic fibres with myelinoid body in subsarcolemmal position (E),
  cytoplasmatic body with mitochondrial alterations and vacuoles in nuclei
  (F). Abnormal dense nuclei with central vacuoles can be seen in (F,
  G).
case_images: 10.1177_1756286419850433-fig2.jpg
case_images: PMC6558532_02_10.1177_1756286419850433-fig2.jpg
case_images: fig2-1756286419850433
case_images: In the child muscle biopsy, morphologic findings by haematoxylin-eosin (HE) staining showed prominent fibre atrophy with acid ATPase stain (pH 4) with a 92% type 1 fibre predominance (Figure 2A and B) was observed. NADH-TR showed the abnormal presence of mitochondrial rims and periodic acid-Schiff (PAS) reaction detected focal glycogen accumulation in some fibres (Figure 2C and D). Ultrastructural analysis showed abnormal mitochondrial accumulation, myelinoid bodies and occasional cytoplasmic bodies; several abnormal nuclei had a fenestrated appearance (Figure 2E-G).
case_images: Evaluation of muscle magnetic resonance imaging (MRI) in lower limbs in
  patients 1 and 2 according to the Mercuri score. (A) Slight atrophy was
  found in both legs and thighs of the female patient (mother of patient
  2). Vastus lateralis, medialis and intermedius presented a 4 Mercuri
  score; semitendinous and semimembranous muscles were spared with Mercuri
  1 score. (B) Advanced atrophy was present, in posterior compartment
  where soleus and gastrocnemius muscles were completely substituted with
  fatty infiltration. (C) Muscles of patient 1 were characterized by
  hypotrophy in the anterior thigh compartment. (D) Leg muscle mass was
  less compromised.
case_images: 10.1177_1756286419850433-fig3.jpg
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case_images: fig3-1756286419850433
case_images: Muscle MRI of patient 1 revealed marked atrophy, fatty tissue replacement in the pelvic girdle and anterior thigh muscles, especially in vastus lateralis, vastus medialis and intermedius, whereas in posterior thigh semitendinous and semimembranous muscles were relatively spared (Figure 3A). Posterior leg muscles were characterized by marked atrophy, in particular, soleus and gastrocnemius muscles were completely replaced by fatty infiltration (Figure 3B).