Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotypeStreptococcus pneumoniaewas isolated in the blood culture. On follow-up, detailed medical history, laboratory and genetic investigation led to the diagnosis of X linked dyskeratosis congenita. Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies.
. Inclusion criteria: age < 18 years old and acute liver failure (INR ≥ 2 without vitamin K response and hepatocellular necrosis). Children with previous liver disease were excluded. Results: Fifty children were included, with median age of 24.5 months. The most common etiology under 2 years old was metabolic (34.6%) and above that age was infectious (29.2%). Forty six percent were submitted to liver transplantation and 78% of them survived. Overall mortality was 34%. Median referral time was 7 days in period A (n = 35) and 2 days in period B (n = 15; p = 0.006). Pediatric risk of mortality´s median was 14.7 in period A and 6.5 in B (p = 0.019). Mortality was 37% vs 26% in periods A and B, respectively (p = 0.474). Discussion and Conclusions: Overall mortality was similar to the observed in other European centers. Liver transplantation is in fact the most effective therapeutic option. After 2008, there was a reduction in referral time and cases severity on admission; however, mortality has not reduced so far.
We report the case of an 11-year-old boy brought to our emergency department 2 hours after a viper bite to his right hand. He suffered severe pain and rapidly progressive swelling with signs of haemodynamic compromise in keeping with distributive shock. The oedema progressed from his right wrist upwards to his forearm and upper arm with compartment syndrome ultimately resulting. He underwent fasciotomy of the right upper limb and antivenom serum was given. The patient required vasopressors for 48 hours and a total of nine surgical interventions were necessary. In the event of a snakebite, it is essential to promptly recognise the signs of severity, complications and indications for the administration of antivenom serum. We intend to highlight this rare shock aetiology and the need for emergency management if severe clinical signs are present. Early administration of antivenom serum is essential and it should be available in all emergency departments.
The identification of IMD as a frequent cause of ALF allowed specific therapeutic measures and adequate family counselling. Particular clinical features and moderated ALT and bilirubin levels can lead to its suspicion.
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