TLDR Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
Seizures are the most common neurological disorder in pediatrics, and initial management focuses on clinical stabilization. A 12-month-old girl with congenital alopecia experienced her first nonfebrile seizure, leading to the discovery of hypocalcemia and subsequent partial response to intravenous calcium. Further tests showed hypophosphatemia, elevated parathormone, and normal 25(OH) vitamin D, leading to a diagnosis of hereditary vitamin D-resistant rickets (HVDRR). This rare disorder, often associated with alopecia, requires early diagnosis and treatment to reduce impacts on growth and prevent other comorbidities.
52 citations
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