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.

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.

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