A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report

Abstract

Rationale: It is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely.

Patient concerns: A 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.

Diagnosis: At our hospital, multiplex ligation-dependent probe amplification confirmed that the patient had 22q11.2 deletion syndrome.

Interventions: The patient continued to be treated with calcium supplements.

Outcomes: Seizure activity and proteinuria ceased.

Lessons: Signs 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.

Figure 1

A. MRI T2 demonstrated focal ischemia of cerebral cortex. B. MRI T1 presented right maxillary sinus mucocele and bilateral otitis me dia. C. CT shows the basal ganglia calcification.

Figure 2

The deformity of shortened fourth and fifth metacarpals and metatarsal was not observed through wrist X-ray.

Figure 3

MLPA technique was used to detect the deletion of 22q11.2. (range: PR 0DH-FLJ42953).