Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review
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منابع مشابه
Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review.
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 ...
متن کاملDiGeorge 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 hypocalcaemia-induced seizures and an associated thyroid mass with a background of learning difficulties and ...
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We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis reveal...
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We present a case report of a newborn girl that was admitted at the University Childrens Hospital Braşov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syn...
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Fahr's syndrome is a neuropsychiatric syndrome characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia and usually associated with a phosphorus and calcium metabolism disorder. Clinical manifestations of Fahr's syndrome vary; it may start at different ages and have a variety of presentations. This article discusses rare presentation of Fahr's syndrom...
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ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 2005
ISSN: 0021-9746
DOI: 10.1136/jcp.2004.023218