Incidence, risk factors, and outcome of pneumatosis intestinalis in pediatric stem cell transplant recipients.

BACKGROUND: Pneumatosis Intestinalis (PI) is a rare complication following hematopoietic stem cell transplant (HSCT). We sought to assess the incidence, risk factors, and outcome associated with PI. PROCEDURE: We retrospectively reviewed the incidence of PI among 178 patients who underwent allogeneic HSCT between September 1999 and February 2010. RESULTS: Eighteen of 178 children (10.1%) who received allogeneic HSCT developed PI at a median of 94 days (range, 11-1169) after transplant. All patients presented with either abdominal pain or distention, and half of the patients had free air on radiographs. Patients who developed PI had a significantly higher proportion of acute (83% vs. 44%, P = 0.002) and chronic graft versus host disease (GVHD; 56% vs. 18%, P < 0.001). Only 39% of patients with PI had GVHD involving the gasterointestinal track. All patients were managed conservatively without surgery. Transplant related mortality (TRM) was significantly higher in patients who developed PI compared to those who did not (OR 4.3, 95% CI: 1.3-13.1; P = 0.007), but no deaths were attributable to PI. CONCLUSIONS: We conclude that PI is a common complication associated with treatment of GVHD after HSCT, and patients who develop PI experience higher TRM. Patients who develop PI should be managed medically.

Comparison of pre-cryopreserved and post-thaw-and-wash-nucleated cell count on major outcomes following unrelated cord blood transplant in children.

Engraftment and OS after umbilical CBT is highly dependent on the TNC. The contribution of the wash step to cell loss and ultimately the dose of cells available for transplant is not well described. To investigate the amount of cell loss after washing and its impact on major outcomes compared to pre-cryopreserved TNC, we analyzed data from patients prospectively enrolled on a National Heart, Lung and Blood Institute sponsored cord blood transplant study between 1999 and 2003. There were 310 patients ≤18 yr of age with malignant (N = 218) or non-malignant (N = 92) disease enrolled on this trial. Only single CBU were used. All CBU were thawed and washed using an identical process. The median TNC after thawing and washing (PTW) was 5.43 × 10(7) /kg (79% recovery of cells). The cumulative incidence of neutrophil engraftment was significantly higher in patients receiving a PTW TNC ≥2.5 × 10(7) /kg (p = 0.01). The cumulative incidence of TRM was higher among patients receiving post-thaw-and-wash TNC <2.5 × 10(7) /kg (p = 0.039). In conclusion, receiving a PTW TNC of <2.5 × 10(7) /kg resulted in worse neutrophil engraftment and increased transplant-related mortality compared to a PTW TNC of ≥2.5 × 10(7) /kg.

A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.

X-linked lymphoproliferative syndrome is a well-described syndrome often characterized by progression to fatal infectious mononucleosis. Many mutations of the SH2D1A gene have been identified in patients with X-linked lymphoproliferative syndrome. These mutations are often associated with either decreased or impaired function of the protein product, signaling lymphocytic activation molecule-associated protein. We describe a patient with a novel missense mutation in SH2D1A. We report on his unique presentation, clinical course and subsequent successful treatment with a matched unrelated donor bone marrow transplant.

Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature.

CAMT is a very rare cause of thrombocytopenia in infants. Most of the patients will progress to marrow failure. Allogeneic stem cell transplant remains the only curative therapy. We present two patients with CAMT who underwent an unrelated donor bone marrow transplant, one after developing marrow failure and another early in the course of the disease. Both patients tolerated the transplant with minimal toxicity and durable engraftment. We also present a comprehensive review of the literature for unrelated donor transplant for this condition.

Unrelated stem cell transplant for infantile idiopathic myelofibrosis.

Idiopathic myelofibrosis (IMF) is a rare disease in children that can present during infancy and have a protracted course. The only known curative approach for this disease in adult patients is allogeneic stem cell transplant. We present two cases of IMF during infancy that did not resolve with supportive care measures. Both patients underwent unrelated stem cell transplant with complete resolution of their hematologic manifestations and resolution of the bone marrow fibrosis.