RESUMO
Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [Published with video sequences].
Assuntos
Receptores de Glicina/genética , Reflexo de Sobressalto/genética , Rigidez Muscular Espasmódica/genética , Humanos , Recém-Nascido , Masculino , Mutação de Sentido IncorretoRESUMO
Subcutaneous fat necrosis (SCFN) is a well-described cause of subcutaneous calcification occurring in a young infant. Calcification of areas of fat necrosis in the neonate is a rare condition. In this case, the radiographic demonstration of soft-tissue calcification revealed the skin calcification in the absence of clinical signs of SCFN and without hypercalcaemia in the first 48 h of life.
