CASE REPORTS
JOURNAL ARTICLE
Add like
Add dislike
Add to saved papers

First seizure as late presentation of velo-cardio-facial syndrome.

Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history of velopharyngeal insufficiency and late development with language impairment; at presentation, minor dysmorphic features were noticed. Laboratory evaluation revealed a parathormone level of <1.0 pg/mL. VCFS was confirmed by fluorescence in situ hybridization study revealing the 22q11.2 deletion. High levels of calcium administration were needed to normalize serum calcium. In this case, signs of hypoparathyroidism only developed in late childhood, and the patient, despite the minor clinical signs of VCFS, remained symptom-free. He presented no cardiac malformations, immunologic abnormalities, or renal dysfunction often associated with this diagnosis. In a child with hypocalcemia, considering the hypothesis of VCFS, even if there are no other manifestations, is important both for clinical diagnosis and management and for genetic counseling.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app