A rare case of neuro regression in an Indian child: beyond the realm of nervous system


  • Preeti Srivastava Department of Pediatrics, Tata Main Hospital, Jamshedpur, Jharkhand
  • Sarala Sunder Department of Pediatrics, Tata Main Hospital, Jamshedpur, Jharkhand
  • Nilanjan Sarkar Department of Radiology, Tata Main Hospital, Jamshedpur, Jharkhand




Neuro regression, Seizures, Hypocalcaemia, Hyperphosphatemia, Soft tissue calcifications, PHP


When we encounter a child with dysmorphism and developmental delay or regression, we are prompted to think on lines of a disorder of nervous system. However, at times a disorder primarily involving another system, more importantly, a modifiable condition, could be responsible for same phenotypic presentation. A 6 years old male child with global developmental delay, dysmorphism, seizures and new onset regression appeared to be suffering from some neurodegenerative disorder on first impression. As detailed examination, lab investigations and imaging findings were noted, a rare endocrinal disorder was unravelled and a diagnosis of pseudohypoparathyroidism (PHP) type 1A was made and was genetically confirmed.

Author Biography

Preeti Srivastava, Department of Pediatrics, Tata Main Hospital, Jamshedpur, Jharkhand


Dept. of Pediatrics

Tata Main Hospital, Jamshedpur-831001

Jharkhand, India


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