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Unusual presentation of more common disease/injury
CASE REPORT
Williams syndrome with severe hypercalcaemia
  1. Vishal Gupta1,
  2. Aakash Pandita2,
  3. Astha Panghal2,
  4. Venkat Reddy Kallem3
  1. 1Neonatology, Max Hospital, New Delhi, India.
  2. 2Department of Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
  3. 3Neonatology, Fernandez Hospital, Hyderabad, India
  1. Correspondence to Dr Aakash Pandita, aakash.pandita{at}gmail.com

Summary

We present an 11-month-old girl child with complaints of constipation, cough, fever, vomiting and growth retardation. On examination, she had facial dysmorphism, hypertension and murmur. The genetic evaluation showed 7q microdeletion specific to Williams syndrome. Abdominal imaging was suggestive of nephrocalcinosis which is rare for this age group. The baby was managed symptomatically and specific treatment like pamidronate, calcitonin and steroid therapy were also administered to reduce hypercalcaemia. Severe hypercalcaemia with associated hypertension and nephrocalcinosis is very rare. Hence, we emphasise here the importance of early detection of these features and their appropriate management for a better outcome of the patient.

  • hypertension
  • calcium and Bone
  • genetics
  • neonatal intensive care

https://doi.org/10.1136/bcr-2018-224513

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    Footnotes

    • Contributors VG, AaP and AsP wrote the manuscript. AaP and VG did the critical appraisal. All authors agreed to the final manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.