PMC10347405_01
Showing timeline of events. AED, antiepileptic drugs; IV, intravenous; CT, computed tomography; MRI, magnetic resonance imaging.
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For 4 years, there had been a history of tooth deformity, aberrant coloring, and thickening of nails, all of which suggested ectodermal dystrophy, and he did not receive any treatment for it (Figure 1).
Sign of hypocalcemia and Ectodermal dystrophy. Chvostek's sign (A), maligned teeth (B), oral thrush (C), dystrophic nails (D), ECG showing long QT of 0.46 s (E).
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However, while taking blood pressure, abduction of the thumb, bending of the wrist and metacarpopharyngeal joint, and extension of the interphalangeal joints were observed, indicating tetanic carpopedal spasm, also known as Chvostek's sign (Figure 2A). Examination of the oral cavity revealed abnormally misaligned teeth and oral thrush (Figures 2B,C). Fingernails and toenails were dystrophic and malformed, with minor nail fold swelling (Figure 2D). ECG revealed a prolonged QTc of 0.44 s (Figure 2E).
CT Brain Plain Axial views: calcification in dentate nuclei (A), basal ganglia (B), and periventricular and semiovale regions (C).
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CT scan brain plain revealed symmetrical extensive calcification in the bilateral basal ganglia, dentate nuclei, periventricular, and semiovale regions of the brain (Figure 3).
MRI Cervical Spinal cord: intramedullary altered intensity signals extending from craniocervical junction to C6 vertebral. T1WI, isointense (A); T2WI/STIR, heterogenous hyperintense (B,C).
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Neuroimaging showed altered t1w1 hypointense and T2 w1 hyperintense signal changes extending from the craniocervical junction to C6, causing diffuse cord expansion, suggesting acute longitudinal and extensive transverse myelitis (Figure 4).