Severe Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Case
https://doi.org/10.15690/vsp.v22i3.2571
Abstract
Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.
Clinical case description. Male patient, 13 years old, was hospitalized for the first time with seizure and multiple spinal fractures caused by hypocalcemia. He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. Later it was confirmed via FISH test.
Conclusion. This clinical case proves once again the uniqueness of every single case, as well as the importance of comprehensive approach to the diagnosis and management of such patients.
Keywords
Supporting agencies: The study was carried out at the expense of the grant from the Ministry of Education and Science of Russian Federation “Development of large-scale research and technology projects in priority research areas” (agreement №075-15-2022-301)
About the Authors
Anastasia O. Vechkasova
North-West State Medical University named after I.I. Mechnikov; Diagnostic Center (Medical Genetics)
Russian Federation
Disclosure of interest:
Russian Federation
Saint-Petersburg
Disclosure of interest:
Not declared
Natalia V. Buchinskaya
Diagnostic Center (Medical Genetics)
Russian Federation
Disclosure of interest:
Russian Federation
Saint-Petersburg
Disclosure of interest:
Not declared
Mikhail M. Kostik
Saint-Petersburg State Pediatric Medical University; Almazov National Medical Research Centre
Russian Federation
Disclosure of interest:
Russian Federation
Saint-Petersburg
Disclosure of interest:
Not declared
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Review
For citations:
Vechkasova A.O., Buchinskaya N.V., Kostik M.M. Severe Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Case. Current Pediatrics. 2023;22(3):271-276. (In Russ.) https://doi.org/10.15690/vsp.v22i3.2571
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