RESUMEN
Background: Infectious mononucleosis is usually a self-limiting illness, but can be rarelyassociated with complications. Case characteristics: A 17-year-old boy with Epstein-Barrvirus related infectious mononucleosis and cold antibody-mediated autoimmune hemolyticanemia with incidentally noted multiple pulmonary nodules. Observations: Nodulesregressed over the next few weeks without specific therapy. Message: Pediatricians needto be aware of this rare clinical presentation of infectious mononucleosis so that furtherinvasive testing can be avoided.
RESUMEN
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder. Diagnosis is established in presence of genetic mutation or positive family history in one of the siblings. Common genetic mutations associated with FHL are mutations in gene PRF-1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4). Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5. Here we describe the first reported Indian patient with homozygous mutation in STX BP2 gene (c1697 G>A resulting in amino acid change p.G566D) causing FHL 5.
RESUMEN
It is exceptionally rare for acute pancreatitis to be the presenting manifestation of childhood systemic lupus erythematosus. We report a 14-year-old girl who presented with a history of fever, generalized rash, arthralgia and abdominal pain. Her serum amylase was 1472U/L and lipase 3316 U/L suggestive of acute pancreatitis. Other investigations revealed pancytopenia, low complement, high 24-hour urinary protein and elevated ANA and dsDNA. She was treated with IV methylprednisone, followed by oral steroids.