# Nonfebrile Seizures in Pediatrics: Key Points to Remember

## TL;DR

A 12-month-old girl with nonfebrile seizures and congenital alopecia was diagnosed with a rare vitamin D-related disorder after a detailed clinical and genetic evaluation.

## Contribution

The case highlights the importance of integrating clinical, biochemical, and genetic findings in diagnosing hereditary vitamin D-resistant rickets.

## Key findings

- The patient exhibited hypocalcemia, hypophosphatemia, and elevated parathormone consistent with vitamin D-resistant rickets.
- Genetic analysis confirmed the diagnosis of hereditary vitamin D-resistant rickets (HVDRR).
- Early diagnosis and treatment are critical to prevent complications and support normal growth.

## Abstract

Seizures are the most common neurological disorder in pediatrics, and their initial approach aims at clinical stabilization. A thorough patient evaluation may provide important clues for the etiological diagnosis. A 12-month-old female child was observed in the emergency department after experiencing her first apyretic seizure. She had a history of congenital alopecia and, on physical examination, presented subtotal alopecia and milia. Initial investigation revealed hypocalcemia; therefore, intravenous calcium correction was started with a partial response. The analytical study was extended, revealing hypophosphatemia, elevated parathormone, and 1,25(OH)2 vitamin D with normal 25(OH) vitamin D. The genetic analysis confirmed hereditary vitamin D-resistant rickets (HVDRR). The integration of the findings was crucial to diagnostic reasoning and to guide further investigation. HVDRR is a rare disorder, with more severe clinical presentations associated with alopecia. Early diagnosis and treatment are fundamental to minimize the impact on growth and the development of other comorbidities.