Severe combined immunodeficiency signalized by eosinophilia and lymphopenia in rotavirus infected infants.

BACKGROUND: Severe combined immunodeficiency (SCID) is a heterogeneous disease consisting of several different subtypes. Most subtypes present during infancy and without treatment, infections usually lead to early death. Diagnosis of SCID can be difficult as new subtypes are expected to be discovered soon. Late diagnosis is associated with a poorer outcome. Infections like rotavirus enteritis cannot be cleared in children with SCID due to impaired immunity. The aim of our study was to identify clues in children with rotavirus enteritis that aid to diagnose SCID early. PATIENTS AND METHODS: Total white blood counts in a cohort of SCID patients with persistent rotavirus infection at diagnosis (n=18) were compared to total white blood counts in matched control patients without SCID but with rotavirus infection. RESULTS: Relative and absolute lymphopenia and eosinophilia were more common in SCID patients (p<0.005). CONCLUSION: In infants with rotavirus infection, a full blood count should be performed: Eosinophilia and/or lymphopenia raise a high suspicion of SCID.

Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A.

Congenital FVII deficiency is a rare bleeding disorder. Clinical complications are similar to those seen in hemophilia A, and an increased incidence of intracerebral hemorrhage related to birth trauma has been reported. The authors report on an infant who presented at the second day of life with melaena and hematemesis caused by congenital FVII deficiency with minimal activity of 4%. A homozygous mutation IVS4+G-->A, formerly described in 2 siblings, who died of brain hemorrhage within the first month of life, was identified. Severe bleeding events were prevented with prophylactic treatment. Early identification of the underlying mutation helps to assess the risk of hemorrhage and prevent severe bleeding by prophylactic FVII therapy.

Bleeding and surgery in children with Glanzmann thrombasthenia with and without the use of recombinant factor VII a.

BACKGROUND: An inherited deficiency of platelet glycoprotein II b/III a (GP II b/III a), Glanzmann thrombasthenia, can lead to excessive bleeding and require platelet transfusion to secure hemostasis. Antibodies to GP II b/III a or HLA may platelet transfusion render ineffective to stop bleeding or to cover surgery. Recombinant factor VII a has been introduced as therapeutic alternative and has been suggested to be effective. PATIENTS AND AIMS OF THE STUDY: In a retrospective evaluation, bleeding episodes and surgery in six patients treated with antifibrinolytics and with and without the additional use of rFVII a were analysed to achieve informations for treatment indication and efficacy. RESULTS: Nineteen mucosal and subcutaneous bleeding episodes, two dental surgeries and seven joint bleeds occurred. In 11 mild to moderate mucocutaneous bleeds treated without rFVII a, seven stopped within 48 hours, three stopped until the fourth day; one showed recurrence. Three bleeds were treated with rFVII a and responded within 24 hours. One severe bleed treated without rFVII a did not stop until the 8 (th) day after cautery. In 4 severe bleeds treated with rFVII a, one stopped within 24 hours, one showed recurrence, one was treated with platelet transfusion concurrently and one did not respond to rFVII a. Clinical signs persisted in one conservatively treated elbow joint bleed, whereas in two episodes treated with rFVII a, the bleeding responded within 5 and 7 days and in four episodes in at least 4 days. Two dental surgeries showed no recurrence after rFVII a over 18 or 36 hours. CONCLUSIONS: In severe mucocutaneous bleeding episodes or joint bleeding rFVII a is of some benefit whereas in surgeries like teeth extraction, prophylactically administered rFVII a seems effective to avoid bleeding. In mild to moderate mucocutaneous bleeding events, antifibrinolytics and local measures were sufficient in most cases and the additional use of rFVII a does not seem to be necessary. Further information is needed to elaborate clear indications for the rational use of rFVII a in bleeding episodes in patients with Glanzmann thrombasthenia compared to standardized baseline treatment. This information may generate a prospective multicenter study to provide clear advice with respect to bleeding site, severity and duration.