PMC9157501_01
Leg bowing and genu valgum.
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Figure 1 ), with a height of 77 cm, which was below the 1st percentile (93.6 cm), a body weight of 11 kg, which was below the 1st percentile (12.2 kg), and a borderline head circumference of 48 cm, which was over the 5th percentile (47.8 cm). Frontal bossing, rachitic rosary, wrist widening ( Figure 2 ), scoliosis with a bent spine, and bilateral genu valgum ( Figure 1 ), in addition to muscle hypotonia, were all visible signs of rickets.
Wrist joint widening.
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Figure 1 ), with a height of 77 cm, which was below the 1st percentile (93.6 cm), a body weight of 11 kg, which was below the 1st percentile (12.2 kg), and a borderline head circumference of 48 cm, which was over the 5th percentile (47.8 cm). Frontal bossing, rachitic rosary, wrist widening ( Figure 2 ), scoliosis with a bent spine, and bilateral genu valgum ( Figure 1 ), in addition to muscle hypotonia, were all visible signs of rickets.
Dental caries in the upper incisors and molar teeth.
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Dental caries were also discovered in the upper incisors and molar teeth ( Figure 3 ).
Fraying, splaying, widening and cupping of the metaphyseal endplates of upper and lower limb bones.
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The classic radiological features of rickets ( Figure 4 ), broadening, cupping, and fraying of metaphyseal ends of upper and lower limb bones, were present ( Figure 5 ).
Marked bowing of both femurs and tibiae.
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The classic radiological features of rickets ( Figure 4 ), broadening, cupping, and fraying of metaphyseal ends of upper and lower limb bones, were present ( Figure 5 ).
Marked scoliotic deformity and marked osteopenic changes. The final diagnosis by a genetic study showed a homozygous likely pathogenic variant was identified in exon 8 of the CYP27B1 gene: c.1375C>T. p.(R459C). Accordingly, this finding was consistent with the genetic diagnosis of autosomal recessive Vitamin D dependent rickets type 1A (VDDR1A). After six months of treatment with oral calcium (elemental 50mg/kg/d) and alfacalcidol (1alpha-hydroxycolecalciferol) 50 ng/kg/d. He has minor radiological healed, but his clinical characteristics have not changed significantly as a result of severe bone abnormalities caused by a late diagnosis. Except for a high urine calcium creatinine ratio, his biochemical tests were normal (
Table 1
), and the treatment was adjusted accordingly. The radiological features take much longer than the biochemistry to return to normal. Surgery could also be necessary later on after medical therapy has failed.
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There was also a 'rugger jersey' appearance to the spine ( Figure 6 ).