A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report
| Autor: | Jing-Yu Jia, Xi-Juan Liu, Chen Yan |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent diagnosis Normal parathyroid hormone 03 medical and health sciences Hyperphosphatemia 0302 clinical medicine Seizures medicine DiGeorge Syndrome Humans Deletion syndrome 030212 general & internal medicine Clinical Case Report Pseudohypoparathyroidism Proteinuria Hypocalcemia business.industry nephrotic syndrome pseudohypoparathyroidism General Medicine medicine.disease Recurrent croup Speech development 030220 oncology & carcinogenesis 22q11.2 deletion syndrome medicine.symptom business Nephrotic syndrome Multiplex Polymerase Chain Reaction Research Article |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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