A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E

MFs with onion bulbs (OBs) were observed in a density of 4452/mm 3 [Figure 2]a,[Figure 2]b,[Figure 2]c. Histogram showed a unimodal pattern and the proportion of MFs with a diameter less than 6 μm was 92.0% [Figure 2]d. The second biopsy revealed more aggravated re/demyelination [Figure 2]e,[Figure 2]f,[Figure 2]g. Compared to the first biopsy, the total number and area of MFs were remarkably reduced to 425/mm 3 and 0.7%. [...]the number of OBs decreased to 2275/mm 3. [1],[2] Clinically, our patients with PMP22 point mutations (p. Cys109Arg and p. Ser72Leu) had early-onset disease, developmental delays, distal motor and sensory deficits, foot deformities, and hyporeflexia in common. Unidentified components, including developmental differences and environmental factors influencing the growth process, may contribute to the extent of the functional disability. [...]supportive care, including proper exercise and nutritional supplementation, might play an important role in preventing the clinical progression of hereditary neuropathy.