Myelodysplastic syndrome with trisomy 8 associated with Behçet syndrome: an immunologic link to a karyotypic abnormality.

Myelodysplastic syndrome (MDS) in children is often associated with chromosomal anomalies and trisomy 8 is a characteristic karyotypic feature in up to 20% of the cases. Behçet disease is a rare multisystem inflammatory disorder characterized by recurrent mouth and genital ulcers. MDS with trisomy 8 has been observed in adult patients with Behçet syndrome with some cases developing prior to the clinical manifestations of the latter. We present a female with a similar association and explain the importance of identifying the coexisting conditions. The immunological abnormalities, which may be observed in MDS and their possible mechanisms, are also discussed.

Factor X deficiency presenting as a pseudotumor. Case report.

The authors report their experience in successfully treating a 15-week-old child who became comatose following a spontaneous intracerebral hemorrhage. It was initially believed that a tumor in the right frontal lobe caused the hemorrhage. Coagulation studies revealed abnormal results on presentation, and the problem was only partially corrected after an infusion of fresh frozen plasma. The child underwent an emergency craniotomy in which the hematoma was evacuated, and a biopsy specimen was obtained from a firm mass at the base of the hematoma cavity. Postoperatively, the child recovered completely, and an analysis of detailed coagulation studies revealed that the child had a factor X deficiency. Histological analysis of the biopsy specimen revealed normal brain tissue with hemorrhagic infiltration. Subsequently, the child achieved normal developmental milestones. A diagnosis of congenital bleeding disorder should be considered in children with spontaneous intracerebral hemorrhage, even in those with no prior episode of extracerebral spontaneous hemorrhage.