ABSTRACT
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. The issues include the need for high clinical suspicion based on skin examination findings and family history, the phenotypic similarity to neurofibromatosis type 1 with possibility of misdiagnosis, the high risk for subsequent malignances, and the need for further research of possible treatment resistance.
Subject(s)
DNA-Binding Proteins/genetics , Mutation , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Child , DNA Repair/genetics , Genetic Predisposition to Disease , Heterozygote , Humans , Male , SkinABSTRACT
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. It may be reasonable to consider observational and reactive care rather than prophylactic care in some cases of inherited ADAMTS13 deficiency.
Subject(s)
ADAM Proteins/deficiency , Anemia, Hemolytic/therapy , Hemolytic-Uremic Syndrome/therapy , Plasma Exchange , Purpura, Thrombotic Thrombocytopenic/therapy , ADAM Proteins/genetics , ADAMTS13 Protein , Anemia, Hemolytic/diagnosis , Anemia, Hemolytic/etiology , Child, Preschool , Genetic Predisposition to Disease , Hemolytic-Uremic Syndrome/diagnosis , Hemolytic-Uremic Syndrome/etiology , Humans , Infusions, Intravenous , Male , Plasmapheresis , Purpura, Thrombotic Thrombocytopenic/congenital , Purpura, Thrombotic Thrombocytopenic/diagnosis , Purpura, Thrombotic Thrombocytopenic/etiologyABSTRACT
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. Phenotypic features and mutation data (where available) were reviewed, but no significant differences were found that predicted severe anemia. Severe anemia is estimated to occur in approximately 6% of CHH patients and is permanent in more than half of these patients. Thrombocytosis, though not previously reported in CHH, was noted in five patients, similar to that seen in DBA. The role of possible gene-gene and gene-environment interactions is discussed.
Subject(s)
Anemia/pathology , Cartilage Diseases/pathology , Osteochondrodysplasias/pathology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adolescent , Adult , Bone and Bones/diagnostic imaging , Child, Preschool , DNA Mutational Analysis , Endoribonucleases/genetics , Female , Homozygote , Humans , Infant , Infant, Newborn , Male , Point Mutation , RadiographyABSTRACT
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.
