We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, failure to thrive and infections. A newborn child was admitted, on his second day of life, to our neonatal intensive care unit because of seizures and respiratory insufficiency. Hyperpigmentation was not evident due to his Senegalese origin. The clinical presentation led us to consider a wide range of diagnostic hypothesis. Laboratory findings brought us to the diagnosis of FGD that was confirmed by molecular analysis showing an MC2R:p.Y254C mutation previously reported as causative of type 1 FGD and two novel heterozygous non-synonymous single-nucleotide polymorphisms in exon 2 and 3 of melanocortin 2 receptor accessory protein-α, whose role in the disease is currently unknown. The importance of an early collection and storage of blood samples during hypoglycaemic event is emphasised.
|Titolo:||A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup|
|Parole Chiave:||Adrenal Insufficiency; DNA; Heterozygote; Humans; Hypoglycemia; Infant, Newborn; Male; Mutation; Receptor, Melanocortin, Type 2; Steroid Metabolism, Inborn Errors; Rare Diseases; Medicine (all)|
|Settore Scientifico Disciplinare:||Settore MED/13 - Endocrinologia|
Settore MED/38 - Pediatria Generale e Specialistica
|Data di pubblicazione:||19-lug-2012|
|Digital Object Identifier (DOI):||10.1136/bcr-03-2012-5979|
|Appare nelle tipologie:||01 - Articolo su periodico|