Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient.

An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily missed hereditary predisposition to childhood cancer.

Inherited ADAMTS13 deficiency: unique presentation and treatment.

A 3-year-old male presented with severe thrombocytopenia and microangiopathic hemolytic anemia in conjunction with severe bilateral otitis media. After laboratory analysis, a diagnosis of inherited ADAMTS13 deficiency was proven. Rather than treating with prophylactic fresh frozen plasma, to date the patient has been successfully treated with single-donor, directed plasma infusions in response to early signs of relapse.

The natural history of severe anemia in cartilage-hair hypoplasia.

Anemia is seen in over 80% of patients with cartilage-hair hypoplasia (CHH). While this is usually mild and self-limited, some patients demonstrate a severe, persistent anemia resembling that seen in Diamond-Blackfan anemia (DBA). This paper examines the natural history of 12 patients with CHH and severe anemia.

Continuous axillary brachial plexus analgesia in a patient with severe hemophilia.

Until now, the safety of continuous axillary brachial plexus block in a patient with hemophilia has not been reported. We describe the use of continuous axillary brachial plexus block for postoperative pain control in a patient with severe hemophilia after an elbow surgery.