ABSTRACT
The combination of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis represents a rare congenital anomaly called Herlyn-Werner-Wunderlich syndrome (HWWS) or obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. Several anomalies have recently been reported to be associated with this syndrome. The present patient with HHWS had multiple anomalies: intestinal non-rotation, anomalies of the large vessels of the abdomen including duplication of the inferior vena cava and a high-riding aortic bifurcation, and hypodontia. Hypodontia has never been reported in a patient with HWWS. The patient underwent a preventative Ladd's procedure and vaginal reconstruction. To prevent serious complications from concomitant anomalies such as intestinal malrotation, a patient with HWWS should be evaluated in detail for associated malformations.
Subject(s)
Abnormalities, Multiple , Intestinal Volvulus/congenital , Kidney Diseases/congenital , Kidney/abnormalities , Vagina/abnormalities , Child , Congenital Abnormalities/diagnosis , Diagnosis, Differential , Digestive System Abnormalities/diagnosis , Female , Humans , Intestinal Volvulus/diagnosis , Kidney Diseases/diagnosis , Tomography, X-Ray ComputedABSTRACT
We report a CD40 ligand deficiency (CD40LD) patient who was successfully treated with unrelated cord blood transplantation (URCBT). Conditioning regimen was busulfan and cyclophosphamide. The clinical course was uneventful and durable engraftment was achieved. This successful case encourages the use of URCB as an alternative donor source for CD40LD patients.
Subject(s)
Agammaglobulinemia/therapy , CD40 Antigens/deficiency , Cord Blood Stem Cell Transplantation , Genetic Diseases, Inborn/therapy , Living Donors , Neutropenia/therapy , Transplantation Conditioning , Agammaglobulinemia/genetics , Busulfan/administration & dosage , Cyclophosphamide/administration & dosage , Genetic Diseases, Inborn/genetics , Graft Survival , Humans , Infant , Male , Neutropenia/geneticsABSTRACT
We describe a 4-year-old girl with haemophagocytic syndrome (HPS) in whom hepatic gallium-67 citrate (Ga-67) uptake was suppressed when the disease was in its acute phase and returned to normal when the disease was in remission. The prominent clinical feature of this case was the occurrence of systemic capillary leak syndrome (CLS). Because extravasation of plasma proteins may be the result of vascular endothelial injury in CLS, loss of hepatic Ga-67 uptake may reflect insult to the hepatic sinusoidal endothelium. This case suggests a possible role of sinusoidal endothelial cells in the mechanism of hepatic Ga-67 uptake and indicates the need for further study of Ga-67 uptake in patients with HPS.
