Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case
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 t...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2023-07-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3228 |
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| author | Anastasia O. Vechkasova Natalia V. Buchinskaya Mikhail M. Kostik |
| author_facet | Anastasia O. Vechkasova Natalia V. Buchinskaya Mikhail M. Kostik |
| author_sort | Anastasia O. Vechkasova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d05468928b1f4de0b1adb3fb2a1a7019 |
| institution | Kabale University |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2023-07-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-d05468928b1f4de0b1adb3fb2a1a70192025-08-20T03:59:53Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352023-07-0122327127610.15690/vsp.v22i3.25712106Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical CaseAnastasia O. Vechkasova0Natalia V. Buchinskaya1Mikhail M. Kostik2North-West State Medical University named after I.I. Mechnikov; Diagnostic Center (Medical Genetics)Diagnostic Center (Medical Genetics)Saint-Petersburg State Pediatric Medical University; Almazov National Medical Research CentreBackground. 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.https://vsp.spr-journal.ru/jour/article/view/322822q11 deletiondi-george syndromevelocardiofacial syndromeseizureshypocalcemiaosteoporosis |
| spellingShingle | Anastasia O. Vechkasova Natalia V. Buchinskaya Mikhail M. Kostik Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case Вопросы современной педиатрии 22q11 deletion di-george syndrome velocardiofacial syndrome seizures hypocalcemia osteoporosis |
| title | Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case |
| title_full | Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case |
| title_fullStr | Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case |
| title_full_unstemmed | Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case |
| title_short | Severe Hypocalcemia in the Adolescent as the Only Manifestation of <i>22q11</i> Microdeletion Syndrome: Clinical Case |
| title_sort | severe hypocalcemia in the adolescent as the only manifestation of i 22q11 i microdeletion syndrome clinical case |
| topic | 22q11 deletion di-george syndrome velocardiofacial syndrome seizures hypocalcemia osteoporosis |
| url | https://vsp.spr-journal.ru/jour/article/view/3228 |
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