Immunological Emergency in Neonate: Case Report and Role of Early Screening.

Healthy looking newborns may have severe combined immunodeficiency (SCID), and neonatologists frequently are the first physicians to encounter these patients. Physicians usually have a high index of suspicion for this condition in presence of certain risk factors (unexplained infants' deaths, consanguinity); however, >80% of infants with SCID have no positive family history. A timely diagnosis of this condition is crucial in decreasing both mortality and morbidity. The only way to detect SCID prior to the onset of infections is newborn screening (NBS). In term infants, NBS has 99.99% sensitivity for SCID, with no false negatives. In preterm infants, screening is less accurate due to a lack of standard T cell receptor excision circle (TREC) values in this age group. We report a case of SCID in term infants born to consanguineous parents who were presented with clinical and laboratory findings of erythroderma, severe infection, failure to thrive, eosinophilia, and elevated immunoglobulin E (IgE) together with immunodeficiency. A timely diagnosis was followed by successful hematopoietic stem cell transplantation (HSCT) therapy.

Comparison of Presentation, Course, and Outcome of Congenital and Acquired Cytomegalovirus Infection in Twins.

Background Cytomegalovirus (CMV) is one of the most common causes of serious viral intrauterine infections. It is universally distributed among the human population with an average incidence of 0.15 to 2%. Indeed, at least half of the women in the reproductive age have evidence of prior CMV infection. Epidemiology and Pathogenicity However, it is not a usual practice to screen asymptomatic pregnant woman or neonates for CMV. Even if a mother developed a primary CMV infection during pregnancy, up to 90% of the newborns with congenital CMV will be asymptomatic at the time of birth. Only 5 to 7% of the infected babies will be acutely symptomatic, and the typical clinical presentation includes intrauterine growth restriction, microcephaly, various cutaneous manifestations (including petechiae and purpura), hematological abnormalities (particularly resistant thrombocytopenia), hepatosplenomegaly, chorioretinitis, hepatitis, etc. In contrast, acquired CMV infection is extremely unlikely to cause any serious sequelae for the infant. Cases We present a case of congenital and acquired CMV infection in twins with a focus of dissimilarity in presentation, clinical course, and outcome.

Neonatal hypercalcemia secondary to subcutaneous fat necrosis successfully treated with pamidronate: a case series and literature review.

Subcutaneous fat necrosis (SCFN) is a noninfectious panniculitis that occurs in term infants who experience significant distress in the 1st weeks of life, including hypoxic ischemic encephalopathy (HIE). Since the introduction of therapeutic hypothermia for HIE, there have been a few published case reports of SCFN, following this modality of treatment. Although, most cases of SCFN resolve spontaneously, SCFN may be associated with hypercalcemia, which may sometimes reach dangerous levels. Approaches used for the management of this potentially life-threatening condition, include hyperhydration, calciuric diuretics, corticosteroids, and in more resistant cases pamidronate, a bisphosphonate. We report our experience on the use of pamidronate in two cases of severe hypercalcemia associated with SCFN following therapeutic hypothermia for HIE. We believe that with increasing use of therapeutic hypothermia for HIE, clinicians are likely to encounter this condition more frequently.