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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
4/2023
vol. 29
 
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abstract:
Case report

Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease – case report and literature review

Aleksandra Janina Wylazłowska
1
,
Małgorzata Grabarczyk
2
,
Marta Gorczyca
3, 4
,
Paweł Matusik
5

  1. Department of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Municipal Hospital in Tychy, Poland
  2. Department of Pathophysiology, Faculty of Medicine in Katowice, Medical University of Silesia in Katowice, Health Promotion and Obesity Management Unit, Poland
  3. Department of Anatomy, Institute of Medical Sciences, University of Opole, Poland
  4. Institute of Nursing, Faculty of Medical Sciences, University of Applied Sciences, Poland
  5. Department of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland
Pediatr Endocrinol Diabetes Metab 2023; 29 (4): 259-266
Online publish date: 2024/01/11
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DiGeorge syndrome is associated with microdeletion of chromosome 22q11. Hypoplasia of the thymus, hypoparathyroidism, facial malformations and cardiac defects as well as learning difficulties are typical features of the disease. On the other hand hypocalcemia related to hypoparathyroidism is not present in every patient and can develop later and be persistent or transient and is often masked by the other signs or symptoms. We described a 13-year-old boy diagnosed with DiGeorge syndrome, after a few years of nonspecific signs and symptoms, and a microarray examination performed because myopathy was suspected on the basis of elevated creatine kinase activity. Only after molecular confirmation of DiGeorge syndrome the patient was referred to a pediatric endocrinologist and proper therapy started. Looking back to his medical history, low calcium levels were at least 2 times reported in the medical records, the child had learning difficulties, speech disturbances, and submucosal cleft palate suspicion. In conclusion it is important to educate general practitioners and pediatricians to check the serum calcium levels in patients presenting with nonspecific, muscular signs and symptoms.
keywords:

myopathy, hypocalcemia, DiGeorge syndrome, hypoparathyroidism, Fahr's syndrome


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