Related Experiment Video
Updated: Feb 4, 2026

Author Spotlight: Self-Assessment Protocol for Predicting Psoriatic Arthritis in Psoriasis Patients
Published on: March 1, 2024
Williams syndrome with severe hypercalcaemia
Vishal Gupta1, Aakash Pandita2, Astha Panghal2
1Neonatology, Max Hospital, New Delhi, India.
Insights
This case study highlights a rare instance of severe hypercalcemia, hypertension, and nephrocalcinosis in an infant with Williams syndrome. Early detection and management of these critical features are crucial for improved patient outcomes.
Area of Science:
- Pediatrics
- Medical Genetics
- Nephrology
Background:
- Williams syndrome is a genetic disorder characterized by developmental delays, distinct facial features, and cardiovascular issues.
- Hypercalcemia, hypertension, and nephrocalcinosis are known complications but are rarely observed together and with such severity in infants.
Abstract:
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.
Related Concept Videos
Nephrotic Syndrome I : Introduction
Acute Coronary Syndrome I: Introduction
Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
Restless Leg Syndrome and Night Terrors
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
Acute Coronary Syndrome V: Nursing Management
Nephrotic Syndrome II : Assessment and Medical Management

