Obesity with developmental delay in infancy: a rare cause not to miss—pseudohypoparathyroidism

Mild developmental delay in infants with obesity is often disregarded, attributing it to increased weight by parents and practitioners. We report an infant with obesity and gross motor delay after the first 6 months of age, seizures and obstructive sleep apnoea. The child was diagnosed with pseudohypoparathyroidism (PHP) and was medically managed with parenteral calcium, vitamin D and magnesium. Appropriate early interventions by developmental therapists addressing the developmental domains coordinated by developmental paediatricians and relevant drug and diet management corrected the delay. The child is followed up for soft tissue calcifications, kidney functions and skeletal health. This case highlights the importance of early recognition and comprehensive management of correctable conditions like PHP by developmental specialists rather than addressing only the developmental aspect of it.

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Publication Details

Journal
BMJ Case Reports
Published
2025-02-01
DOI
https://doi.org/10.1136/bcr-2024-263698
Primary Topic
Genetic Syndromes and Imprinting
Type
article
Field-Weighted Citation Impact
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article

Obesity with developmental delay in infancy: a rare cause not to miss—pseudohypoparathyroidism

Nannan Thirumavalavan, Lal D V Nair, Saravanan Thangamani, A. Ahmed et al.
BMJ Case Reports
Genetic Syndromes and Imprinting
article

Obesity with developmental delay in infancy: a rare cause not to miss—pseudohypoparathyroidism

Nannan Thirumavalavan, Lal D V Nair, Saravanan Thangamani, A. Ahmed, Rine Benson Thobias
article en

Abstract

Mild developmental delay in infants with obesity is often disregarded, attributing it to increased weight by parents and practitioners. We report an infant with obesity and gross motor delay after the first 6 months of age, seizures and obstructive sleep apnoea. The child was diagnosed with pseudohypoparathyroidism (PHP) and was medically managed with parenteral calcium, vitamin D and magnesium. Appropriate early interventions by developmental therapists addressing the developmental domains coordinated by developmental paediatricians and relevant drug and diet management corrected the delay. The child is followed up for soft tissue calcifications, kidney functions and skeletal health. This case highlights the importance of early recognition and comprehensive management of correctable conditions like PHP by developmental specialists rather than addressing only the developmental aspect of it.

BMJ Case ReportsVol. 18(2)
Saveetha University (IN)
Good health and well-being
Openalex Percentile: Top 96%
Genetic Syndromes and Imprinting
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