PMC9805609_01
Clinical examination in both patients disclosed "inverted champagne bottle" appearance, pes cavus, and hammer toes, characterizing for Charcot-Marie-Tooth disease.
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F2
Their clinical examination images are also shown in [Figure 2].
The proband's brain MRI revealed mild atrophy of superior cerebellar vermis, upper pons, and bilateral linear hypointensities in the pons on T2-weighted sequence.
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F3
Babinski sign, no spasticity, and no cerebellar and gait ataxia [Figure 2]. Laboratory tests (CK, B12, HbA1c, metabolic disorders, and cerebrospinal fluid analysis) remained within normal range. Brain MRI revealed slight atrophy of superior cerebellar vermis and bilateral linear hypodensities on the T2-weighted sequence [Figure 3].
PMC9805609_02
Clinical examination in both patients disclosed "inverted champagne bottle" appearance, pes cavus, and hammer toes, characterizing for Charcot-Marie-Tooth disease.
SNI-13-553-g002.jpg
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F2
Their clinical examination images are also shown in [Figure 2].
Analysis of PCR Sanger to confirm the presence of these variants on their parents revealed, both patients were inherited NEFH c.1925C>T variant in autosomal recessive trait, and SACS c.11343del variant from the mother. SACS c.13174C>T variant was inherited from the father. Left PCR belongs to the father, right PCR belongs to the mother.
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F4
PCR Sanger on preselected NEFH and SACS variants for the proband's parents to confirm the presence of these variants, concluding that SACS c.13174C>T variant inherited from the father, and NEFH c.1925C>T and SACS c.11343del inherited from the mother [Figure 4].