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; Małgorzata Grabarczyk; Marta Gorczyca; Paweł Matusik

doi:10.5114/pedm.2023.132030

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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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

Department of Pediatrics, Pediatric Obesity and Metabolic Bone Diseases, Municipal Hospital in Tychy, Poland
Department of Pathophysiology, Faculty of Medicine in Katowice, Medical University of Silesia in Katowice, Health Promotion and Obesity Management Unit, Poland
Department of Anatomy, Institute of Medical Sciences, University of Opole, Poland
Institute of Nursing, Faculty of Medical Sciences, University of Applied Sciences, Poland
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

DOI: https://doi.org/10.5114/pedm.2023.132030

Online publish date: 2024/01/11

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AMA

Wylazłowska A, Grabarczyk M, Gorczyca M, Matusik P. Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2023;29(4):259-266. doi:10.5114/pedm.2023.132030.

APA

Wylazłowska, A., Grabarczyk, M., Gorczyca, M.,  & Matusik, P. (2023). Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review. Pediatric Endocrinology Diabetes and Metabolism, 29(4), 259-266. https://doi.org/10.5114/pedm.2023.132030

Chicago

Wylazłowska, Aleksandra Janina, Małgorzata Grabarczyk, Marta Gorczyca,  and Paweł Matusik. 2023. "Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review". Pediatric Endocrinology Diabetes and Metabolism 29 (4): 259-266. doi:10.5114/pedm.2023.132030.

Harvard

Wylazłowska, A., Grabarczyk, M., Gorczyca, M.,  and Matusik, P. (2023). Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review. Pediatric Endocrinology Diabetes and Metabolism, 29(4), pp.259-266. https://doi.org/10.5114/pedm.2023.132030

MLA

Wylazłowska, Aleksandra Janina et al. "Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review." Pediatric Endocrinology Diabetes and Metabolism, vol. 29, no. 4, 2023, pp. 259-266. doi:10.5114/pedm.2023.132030.

Vancouver

Wylazłowska A, Grabarczyk M, Gorczyca M, Matusik P. Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical 
course of the disease – case report and literature review. Pediatric Endocrinology Diabetes and Metabolism. 2023;29(4):259-266. doi:10.5114/pedm.2023.132030.

PlumX metrics:

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:

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

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

Aleksandra Janina Wylazłowska

¹

,

Małgorzata Grabarczyk

²

,

Marta Gorczyca

^{3, 4}

,

Paweł Matusik

⁵