DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood
Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report. We report a case of a gentleman with mild dysmorphic features who presented with hypocalcaemi...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/923129 |
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| author | Adrian Zammit Deborah Grech Marguerat Josephine Psaila Alexander Attard |
| author_facet | Adrian Zammit Deborah Grech Marguerat Josephine Psaila Alexander Attard |
| author_sort | Adrian Zammit |
| collection | DOAJ |
| description | Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report. We report a case of a gentleman with mild dysmorphic features who presented with hypocalcaemia-induced seizures and an associated thyroid mass with a background of learning difficulties and abnormal immune function. Discussion. DiGeorge syndrome was initially described in 1967 by Angelo DiGeorge. The majority of cases are due to a novel mutation. The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. Presentation in adulthood is rare but must be borne in mind when dealing with cases of hypocalcaemia even in the absence of florid phenotypic features. A link with malignant disease has also been reported and should lead to prompt investigation of concerning masses. |
| format | Article |
| id | doaj-art-eeacd0047d1f4536a145ea9c2ad9b31f |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-eeacd0047d1f4536a145ea9c2ad9b31f2025-02-03T01:32:11ZengWileyCase Reports in Medicine1687-96271687-96352013-01-01201310.1155/2013/923129923129DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in AdulthoodAdrian Zammit0Deborah Grech Marguerat1Josephine Psaila2Alexander Attard3Department of Surgery, Mater Dei Hospital, Msida MSD 2090, MaltaDepartment of Surgery, Mater Dei Hospital, Msida MSD 2090, MaltaDepartment of Surgery, Mater Dei Hospital, Msida MSD 2090, MaltaDepartment of Surgery, Mater Dei Hospital, Msida MSD 2090, MaltaIntroduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report. We report a case of a gentleman with mild dysmorphic features who presented with hypocalcaemia-induced seizures and an associated thyroid mass with a background of learning difficulties and abnormal immune function. Discussion. DiGeorge syndrome was initially described in 1967 by Angelo DiGeorge. The majority of cases are due to a novel mutation. The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. Presentation in adulthood is rare but must be borne in mind when dealing with cases of hypocalcaemia even in the absence of florid phenotypic features. A link with malignant disease has also been reported and should lead to prompt investigation of concerning masses.http://dx.doi.org/10.1155/2013/923129 |
| spellingShingle | Adrian Zammit Deborah Grech Marguerat Josephine Psaila Alexander Attard DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood Case Reports in Medicine |
| title | DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood |
| title_full | DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood |
| title_fullStr | DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood |
| title_full_unstemmed | DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood |
| title_short | DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood |
| title_sort | digeorge syndrome presenting as hypocalcaemia induced seizures in adulthood |
| url | http://dx.doi.org/10.1155/2013/923129 |
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