Objective:To report a patient with prenatal diagnosis of portosystemic shunt; a rare condition in humans.Case description:17-Day-old female infant admitted for investigation of suspected diagnosis of portosystemic shunt, presumed in obstetric ultrasound. The hypothesis was confirmed after abdominal angiography and liver Doppler. Other tests such as echocardiography and electroencephalogram were performed to investigate possible co-morbidities or associated complications, and were normal. We chose conservative shunt treatment, as there were no disease-related complications and this was intrahepatic shunt, which could close spontaneously by the age of 2 years.Comments:Portosystemic shunt can lead to various complications such as hepatic encephalopathy, hypergalactosemia, liver tumors, and hepatopulmonary syndrome. Most diagnoses are done after one month of age, after such complications occur. The prenatal diagnosis of this patient provided greater security for the clinical picture management, as well as regular monitoring, which allows the anticipation of possible complications and perform interventional procedures when needed.
OBJECTIVE: To identify clinical, laboratorial and radiographic predictors for
Bordetella pertussis infection. METHODS: This was a retrospective study, which analyzed medical records of all patients
submitted to a molecular dignosis (qPCR) for B. pertussis from
September 2011 to January 2013. Clinical and laboratorial data were reviewed,
including information about age, sex, signs/symptoms, length of hospitalization,
blood cell counts, imaging findings, coinfection with other respiratory pathogens
and clinical outcome. RESULTS: 222 cases were revised. Of these, 72.5% had proven pertussis, and 60.9% were
under 1 year old. In patients aging up to six months, independent predictors for
B. pertussis infection were (OR 8.0, CI 95% 1.8-36.3;
p=0.007) and lymphocyte count >104/µL (OR 10.0,
CI 95% 1.8-54.5; p=0.008). No independent predictors of
B. pertussis infection could be determined for patients older
than six months. Co-infection was found in 21.4% of patients, of which 72.7% were
up to six months of age. Adenovirus was the most common agent (40.9%). In these
patients, we were not able to identify any clinical features to detect patients
presenting with a respiratory co-infection, even though longer hospital stay was
observed in patients with co-infections (12 vs. 6 days; p=0.009).
CONCLUSIONS: Cyanosis and lymphocytosis are independent predictors for pertussis in children
up to 6 months old.
Mevalonate kinase (MK) deficiency is an auto inflammatory autosomal recessive disorder caused by a mutation in the gene encoding MK, an essential enzyme in the biosynthesis of cholesterol and isoprenoids. The disease has a wide clinical spectrum according to enzyme residual activity, the most severe form is known as Mevalonic Aciduria (MA). The aim of this article is to report a clinical case of severe MA, with an initial manifestation of a skin rash known as blueberry muffin, most commonly associated with congenital infections or neonatal hematopoietic diseases. We report the case of a three-month boy, born to consanguineous parents, that was referred to our service for assessment of malnutrition, vomiting, fever, jaundice and hepatosplenomegaly. At birth, he presented a purpuric rash suggestive of Blueberry Muffin Baby Syndrome. A thorough investigation revealed increased excretion of urinary mevalonic acid and a single mutation in homozygosis in exon 10 of the MK gene, which confirmed the diagnosis of MA. Our clinical case brings out the first report that associates blueberry muffin rash and MA.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.