An Infant with Seizures, Rash, and Hepatosplenomegaly

An infant with seizures, rash, and hepatosplenomegaly.

(See pages 451–2 for the Photo Quiz) Figure 2. Scalp of the infant, showing crusted erythematous erosion following a ruptured bullae. Figure 1. Scaly, erythematous erosions with collaretes of crust and numerous bullae covering the entire lower limbs of the neonate. Diagnosis: congenital syphilis. The infant's rapid plasma reagin test was reactive at a titer of 1:256 dilutions; a Treponema palli...

Rash and hepatosplenomegaly in a newborn

A newborn male infant, with an estimated gestational age of 35weeks, was born via spontaneous vaginal delivery to a 28year-old mother, who presented in active labour with a macular rash on her hands and feet noted at the time of delivery, as shown in Fig. 1(c–e). Maternal history was significant for illicit drug use and scant prenatal care, without thorough serological evaluation performed prio...

An infant with recurrent maculopapular rashes, anemia, lymphadenopathy, and hepatosplenomegaly.

An Unusual Case of Hepatosplenomegaly with Cytopenia

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder of immune dysregulation secondary to defective lymphocyte apoptosis. This leads to uninhibited proliferation of lymphoid tissue manifesting with lymphadenopathy, hepatosplenomegaly, autoimmune cytopenia, and an increased risk of lymphoid malignancy. We report a 2 year old boy with fever, generalized lymphadenopathy, he...

A Newborn with a Blueberry Muffin Rash, Hepatosplenomegaly, Thrombocytopenia and Severe Cholestatic Jaundice at Birth

Neonatal cholestasis is characterized by an elevation of conjugated bilirubin. It occurs in approximately 1 in 2500 term infants. Gaucher Disease (GD) is an exceptionally rare cause of neonatal cholestasis. We report a male term newborn with a blueberry muffin rash, hepatomegaly and massive splenomegaly at birth. His total serum bilirubin (TSB)/direct was 13.5/11.9 mg/dL, and platelet count 20,...