22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man

Cao, Zhijian; Yu, Robert K.; Dun, Karen; Burke, Jo; Caplin, Neil; Greenaway, TM

doi:10.1111/j.1445-5994.2010.02374.x

Cited by 18 publications

(6 citation statements)

References 12 publications

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“…The identification of adults with a milder phenotype deserves careful attention since a later onset illness associated with 22q11.2DS has been reported, highlighting the possibility that along with psychiatric disorders, also treatable conditions such as symptomatic or asymptomatic hypocalcaemia, thrombocytopenia and hypothyroidism may occur [49]. Early recognition of these features [50] could provide the benefit of an early treatment [51-53].…”

Section: Discussionmentioning

confidence: 99%

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

et al. 2014

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Background22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion.MethodsThirty-two 22q11.2DS subjects among 26 families were enrolled.ResultsSecond generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P < 0.05). Ocular disorders were more frequent in the parent group. No significant difference was observed for the other clinical variables. Intrafamilial phenotypic heterogeneity was identified in the pedigrees. In 23/32 families, a higher number of features were found in individuals from the second generation and a more severe phenotype was observed in almost all of them, indicating the worsening of the phenotype over generations. Both genetic and epigenetic mechanisms may be involved in the phenotypic variability.ConclusionsSecond generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome.

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Section: Discussionmentioning

confidence: 99%

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

et al. 2014

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“…First, we consider if the accumulation of calcium induces the irreversible and permanent damage of the brain, especially specific regions. Second, compared with other IHP patients, it is unknown whether the main symptom is under the background of genetics or not (9), such as the CACNA1C genotype, a subunit of the L-type voltage-gated calcium channel (10). Finally, a computed tomography scan allowed earlier diagnosis, with high sensitivity and specificity.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic Hypoparathyroidism (IHP) Presenting as “Schizophrenia:” A Case Report

2014

Arch Neuropsychiatr

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Idiopathic hypoparathyroidism (IHP) with the onset of psychosis is a rare case in the psychiatric clinic. In this case report, we summarize the three facets of IHP, which contains the clinical, biochemical, and radiological features. Besides, the differential diagnosis of this case is supposed to be a highlight that IHP could have the main complaints of psychotic symptoms and featured signs on neuroimaging manifestation.

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“…İlk nöbet en sık hiponatremiye bağlı olarak ortaya çıksa da alta yatan sebep ne olursa olsun tek başına veya birlikte hipokalsemi ve hipomagnezemide de ilk nöbetler rapor edilmiştir. [2,8,9] Sunulan hasta yıllardır spiranolakton tedavisi almakta idi ve gelişen nöbetten 2 hafta öncesinde değerlendirilen elektrolit değerleri normaldi. Ancak karın ağrısı nedeniyle tetkik edilmek üzere aynı gün içinde 6 litre su içen hastada birkaç saat sonra ilk nöbet ve ardından status epileptikus gelişti.…”

Section: Discussionunclassified

First Symptomatic Seizure and Status Epilepticus due to Acute Electrolyte Imbalance

Koç¹,

Ersoy²,

İlhan³

2011

Epilepsi

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ÖzetSon yıllarda tıp alanındaki gelişmeler sayesinde hastalara kısa sürede doğru tanı koymak daha kolay hale gelmiştir. Bu durum öncelikli olarak acil servisler için önem arz etmektedir. Doğru tanı ve tedavi için bazen aynı gün içinde kişiye birçok tetkik yapılması gerekebilmektedir. Yapı-lan bu işlemler hastada istenmeyen durumlara yol açabilmektedir. Bu yazıda, karın ağrısı şikayeti nedeniyle yapılması planlanan görüntüleme yöntemleri için aşırı su alımı sonucu elektrolit imbalansı gelişen ve ilk nöbetini status epileptikus olarak geçiren bir hasta sunuldu.Anahtar sözcükler: Abdomen tomografi; elektrolit imbalansı; status epileptikus; ultrasonografi. SummaryIn recent years, putting the correct diagnosis in a short time becomes easier due to advances in medical science. This is primarily important for emergency services. Sometimes it has been need to make many examinations to the person in a day for the correct diagnosis and treatment. This processes may lead to unwanted situations for the patient. In this paper, it was presented a patient who has developed electrolyte imbalance as a result of the excessive intake of water for imaging techniques because of abdominal pain and who had the first seizure as status epilepticus.

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22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man

Cited by 18 publications

References 12 publications

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

Idiopathic Hypoparathyroidism (IHP) Presenting as “Schizophrenia:” A Case Report

First Symptomatic Seizure and Status Epilepticus due to Acute Electrolyte Imbalance

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