ABSTRACT
AIM: To assess the electrocardiography and echocardiography changes during therapeutic hypothermia and rewarming period in encephalopathic infants with long-term adverse neurological outcome. METHODS: Prospective multicentre longitudinal study. We included 64 consecutive infants with moderate or severe hypoxic ischaemic encephalopathy undergoing therapeutic hypothermia who had 18-24 month-outcome data. We analysed electrocardiography and heart rate changes before, during and after therapeutic hypothermia. Superior vena cava flow, left ventricular cardiac output and stroke volume were studied using echocardiography during and immediately after therapeutic hypothermia. An abnormal outcome was defined as death or moderate/severe disability at 18-24 months. RESULTS: Neonates with higher superior vena cava flow pre-rewarming had signiï¬cantly higher odds of documented long-term adverse outcome when compared to newborns with good outcome (OR 1.57; 95%CI, 1.1-1.78; p = 0.01 after adjustment). QTc and RR intervals were significantly longer at 12, 24, 36 and 48 h in infants with good outcome compared with those with adverse outcome (p < 0.001). During therapeutic hypothermia, infants with poor outcome had a higher heart rate at 12, 24, 36, 48, 60 h after birth compared with those with good outcome (p < 0.001). From 36 h on, heart rate gradually increased and RR and QTc intervals progressively shortened with values back to normal after rewarming. CONCLUSIONS: Infants with hypoxic ischaemic encephalopathy who have adverse neurological outcome show a preferential cerebral blood flow redistribution during therapeutic hypothermia. Infants with poor outcome have higher heart rate and shorter RR and QTc intervals during therapeutic hypothermia.
Subject(s)
Asphyxia Neonatorum/complications , Cardiac Output , Cerebrovascular Circulation , Hypothermia, Induced , Hypoxia-Ischemia, Brain , Rewarming/methods , Stroke Volume , Echocardiography/methods , Electrocardiography/methods , Female , Humans , Hypothermia, Induced/adverse effects , Hypothermia, Induced/methods , Hypoxia-Ischemia, Brain/diagnosis , Hypoxia-Ischemia, Brain/etiology , Hypoxia-Ischemia, Brain/mortality , Hypoxia-Ischemia, Brain/therapy , Infant, Newborn , Long Term Adverse Effects/diagnosis , Longitudinal Studies , Male , Nervous System Diseases/diagnosis , Nervous System Diseases/epidemiology , Nervous System Diseases/etiology , Outcome Assessment, Health Care , Prospective Studies , Severity of Illness Index , Vena Cava, Superior/physiopathologyABSTRACT
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy.