Research Article: Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
Abstract:
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the CASR gene, which provides instructions for producing the protein called calcium-sensing receptor (CaSR). Hypocalcemia in the neonatal period has a wide differential diagnosis. We present the case of a female newborn with genetic hypoparathyroidism (L125P mutation of CASR gene), hypocalcemia, and neonatal seizures due to the potential correlation between refractory neonatal seizures and ADH1. Neonatal seizures were previously described in patients with ADH1 but not in association with the L125P mutation of the CASR gene. Prompt diagnosis and management by a multidisciplinary and an appropriate therapeutic approach can prevent neurological and renal complications.
Introduction:
Hypocalcemia can be a life-threatening condition with symptoms ranging from mild symptoms to cardiac dysrhythmias, tetany, seizures, or laryngospasm in severe acute conditions. Hypocalcemia often develops as a consequence of vitamin D deficiency, hypoparathyroidism, or renal disease and occasionally can be part of a genetic syndrome [1,2]. Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by gain-of-function (GoF) mutations in the CASR gene, which increases the sensitivity…
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