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case_images: The family tree: a six-generation Romani family with three affected children (VI.2, VI.3, and VI.5). The index case is the third child in the last generation, marked by an arrow.
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case_images: Following a detailed family history, a pedigree was constructed using an in-house tool (Figure 1), which revealed another affected sibling (VI.2), a 6-year-old girl previously known to pediatric neurology for hypotonia and muscle weakness.
case_images: Clinical features of the three affected children: (a) index case, VI.3 (b) older sister, case VI.2; (c) younger sibling, case VI.5.
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case_images: Her facial characteristics included dolichocephaly, a narrow forehead, hypertelorism, bilateral ptosis, epicanthal folds, a broad nasal bridge, a highly arched palate, multiple dental anomalies, and a small chin (Figure 2b). He presented with a similar facial appearance, including dolichocephaly, a narrow forehead, hypertelorism, bilateral ptosis, dystopia canthorum, a broad nasal bridge, protruding ears, facial weakness, a highly arched palate, multiple dental anomalies, and a small chin (Figure 2c).
case_images: PMC11816469_02
case_images: Clinical features of the three affected children: (a) index case, VI.3 (b) older sister, case VI.2; (c) younger sibling, case VI.5.
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case_images: Her facial characteristics included dolichocephaly, a narrow forehead, hypertelorism, bilateral ptosis, epicanthal folds, a broad nasal bridge, a highly arched palate, multiple dental anomalies, and a small chin (Figure 2b). He presented with a similar facial appearance, including dolichocephaly, a narrow forehead, hypertelorism, bilateral ptosis, dystopia canthorum, a broad nasal bridge, protruding ears, facial weakness, a highly arched palate, multiple dental anomalies, and a small chin (Figure 2c).
case_images: A 12% decrease in M-wave amplitude and area after the third repetitive nerve stimulation of the right orbicularis oculi in the 5th series of RNS for the index case.
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case_images: In more than half of the series, M-wave amplitude and area decrement values of 12-13-15% were observed after the third repetitive nerve stimulation compared to the first stimulation (Figure 3), while no clear decrement compared to the first stimulation, was noted in any other muscle groups tested (Figure 4).
case_images: No decrement in the M-wave amplitude or area following five repeated nerve stimulations of the right accessory nerve in the 11th RNS series for the index case.
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case_images: In more than half of the series, M-wave amplitude and area decrement values of 12-13-15% were observed after the third repetitive nerve stimulation compared to the first stimulation (Figure 3), while no clear decrement compared to the first stimulation, was noted in any other muscle groups tested (Figure 4).
case_images: A more than 10% decrease in the M-wave amplitude and area after the third stimulation of the right ulnar nerve in the 10th RNS series for case VI.2.
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case_images: After the third stimulation, RNS revealed a myasthenic-type amplitude and area decrement (M-wave) compared to the first stimulation, in the right ulnar nerve (recorded from the abductor digiti minimi muscle; Figure 5) and in the facial nerve (recorded from the orbicularis oculi muscle; Figure 6).
case_images: A more than 20% decrease in the M-wave amplitude and area after the third stimulation of the right facial nerve in the 5th RNS series for case VI.2.
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case_images: After the third stimulation, RNS revealed a myasthenic-type amplitude and area decrement (M-wave) compared to the first stimulation, in the right ulnar nerve (recorded from the abductor digiti minimi muscle; Figure 5) and in the facial nerve (recorded from the orbicularis oculi muscle; Figure 6).
case_images: No M-wave amplitude or area decrement in the 10th RNS series of the right accessory nerve stimulation for case VI.2.
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case_images: However, the repetitive nerve stimulation of the right accessory nerve (recorded from the superior portion of the trapezius muscle) showed no decrement compared to the first stimulation (Figure 7).