• Xi-Juan Liu, Chen Yan, and Jing-Yu Jia.
• Department of Paediatric.
• Medicine (Baltimore). 2019 Jun 1; 98 (25): e16109.

RationaleIt is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely.Patient ConcernsA patient was diagnosed with pseudohypoparathyroidism at age 14 years because of convulsions, hypocalcemia, hyperphosphatemia, normal parathyroid hormone levels, and basal ganglia calcifications. Thereafter, the child presented with symptoms of nephrotic syndrome; subsequently, he was diagnosed with nephrotic syndrome at the local hospital.DiagnosisAt our hospital, multiplex ligation-dependent probe amplification confirmed that the patient had 22q11.2 deletion syndrome.InterventionsThe patient continued to be treated with calcium supplements.OutcomesSeizure activity and proteinuria ceased.LessonsSigns of this syndrome include delayed speech development due to velofacial dysfunction, recurrent croup attacks during early childhood due to latent hypocalcemia, and mild dysmorphic features. The findings of this patient indicated that 22q11.2 deletion syndrome may include a wide spectrum of clinical findings and that this diagnosis needs to be considered for all patients presenting with hypocalcemia, regardless of age.

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