ArticleJournal of clinical pathology2005
Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.
Article in Journal of clinical pathology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Hypoparathyroidism: diagnosis, management and emerging therapies.Nature reviews. Endocrinology · 2025Review
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- 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 · 2023Review
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- Hypocalcaemia in an adult: the importance of not overlooking the cause.BMJ case reports · 2018Article
- An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.Internal medicine (Tokyo, Japan) · 2017Article
- Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome.Journal of developmental origins of health and disease · 2016Article
- Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations.BMJ case reports · 2015Article
- 22q11.2 microdeletion in two adolescent patients who presented with convulsion.Turk pediatri arsivi · 2014Article
- DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood.Case reports in medicine · 2013Article
- DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood.The Ulster medical journal · 2008Article
- Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report.Journal of medical case reports · 2007Article
- Afebrile Seizures as Initial Symptom of Hypocalcemia Secondary to Hypoparathyroidism.Journal of neurosciences in rural practiceArticle
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This report describes two cases of Di-George syndrome presenting with hypoparathyroidism in adulthood. The first patient presented with profound hypocalcaemia that resulted in a generalised seizure. Routine investigations revealed hypoparathyroidism. The clue to her underlying condition was the postnatal death of her young child. This case shows that Di-George syndrome can present in adulthood with hypocalcaemia in the absence of other classic features of this condition. This has enormous implications for future family planning and may also have important health implications. The second patient, diagnosed on routine blood testing, had previously suffered with a congenital heart condition, but the syndrome was not revealed until she was of postmenopausal age. These two patients show that Di-George syndrome can present in adulthood with hypocalcaemia. This is an important observation because the condition has profound implications for health and family planning.
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