Pediatric Hematology Unit. Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, EPE, Lisbon Academic Medical Center, Lisbon, Portugal.
Published: March 2015
AI Article Synopsis
Article Abstract
We report a case of a female neonate whose pulse oximetry screening for congenital heart disease at 40 h of life was positive. The pregnancy was uneventful with no relevant family history. The neonate presented with bluish discolouration of the skin lasting until day 15. Cardiovascular examination and chest radiography were normal. Septic screening was negative. Oxygen therapy was started with poor response; investigations revealed a methaemoglobinaemia of 7.4%. The methaemoglobin level reached a peak of 15% on day 10, falling thereafter. The infant was discharged by day 20 with a normal physical examination and a methaemoglobinaemia of 11.4%. By 2 months of age this had fallen to 2.4%. Further investigation revealed a haemoglobin M variant: a heterozygous mutation of the γ globin gene known as Hb F-M Viseu. The mutation occurs in the γ chain, therefore the methaemoglobinaemia is transitory, resolving with the transition from fetal to adult haemoglobin.
- The case involves a 2-month-old Iranian boy who developed persistent fever after receiving a 5-in-1 vaccine, leading to a diagnosis of atypical Kawasaki disease, which is rare in infants.
- Initial tests showed abnormal blood counts and echoed results revealed giant coronary artery aneurysms, highlighting serious complications related to the disease.
- The case stresses the importance of timely diagnosis and treatment for Kawasaki disease in infants, emphasizing healthcare providers' need to recognize it in similar situations to prevent severe health outcomes.
Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.
Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.
Background: High-risk pregnancies, characterized by underlying health issues or unusual circumstances, pose increased risks to both maternal and neonatal health during pregnancy and childbirth. Global guidelines emphasize the importance of early identification, monitoring, and intervention to mitigate these risks.
Method: We decided to design and implement a telemonitoring system for remotely monitoring and managing pregnancies in women with conditions such as hypertension, diabetes, or high-risk pregnancy.
