ABSTRACT
UNLABELLED: Harlequin syndrome (HS) is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is characterized by unilateral diminished sweating and flushing of the face even though after heat or prolonged exercise. It is typically acquired. Congenital cases only represent a 6% of all individuals with HS. All congenital HS cases reported so far showed a concomitant Horner syndrome, probably due to a stellate ganglion involvement. HS represents an uncommon autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is clinically characterized by a dramatic alteration in facial appearance: ipsilateral denervated pale and dry half from the other intact red and moist half. CONCLUSION: We present, to the best of our knowledge, the first case of a patient with a congenital HS as an isolated phenomenon.
Subject(s)
Autonomic Nervous System Diseases/congenital , Autonomic Nervous System Diseases/diagnosis , Flushing/congenital , Flushing/diagnosis , Hypohidrosis/congenital , Hypohidrosis/diagnosis , Rare Diseases/congenital , Rare Diseases/diagnosis , Face , Humans , Infant , MaleABSTRACT
Pese a la elevada incidencia de displasia de cadera clínicamente importante (3-5 casos por cada 1000 recién nacidos vivos) y a los ampliamente estudiados factores de riesgo principales (parto de presentación podálica, sexo femenino y antecedentes familiares de displasia evolutiva de cadera), no se ha conseguido encontrar una estrategia efectiva que reduzca la incidencia de casos tardíos. Reabrimos, a propósito de un caso, la controversia existente acerca del cribado ecográfico universal en la patología osteomuscular más frecuente de la infancia (AU)
Despite the elevated incidence of clinically relevant hip dysplasia (3-5 per 1000 live births) and the broadly studied main risk factors (breech position, female sex and family cases), we have not achieved an effective prevention strategy, and so the detection of late cases has not decreased. We reopen, following a case, the existent controversy upon universal ultrasound screening on the most frequent musculo-skeletal disorder in the infancy (AU)
