Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.

Two infants are described who presented with 22q11.2 deletion and a T(-)B(-)NK(+) immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months after transplantation had circulating thymus donor T cells; the patient did not develop recipient naïve T cells. Genetic analyses revealed that both patients had Artemis deficiency, a rare form of severe combined immunodeficiency (SCID). Both infants have subsequently undergone bone marrow transplantation. These cases illustrate the importance and paradox of differentiating SCID from complete DiGeorge anomaly because hematopoietic stem cell transplantation (HSCT) is the preferred treatment for SCID but is ineffective for complete DiGeorge anomaly. However, if the thymus is completely absent, donor stem cells from a HSCT would not be able to be educated.

Age-dependent closure of bony defects after frontal orbital advancement.

BACKGROUND: The ability of the immature skull to spontaneously heal large bony defects created after craniofacial procedures was examined over a 25-year period of craniofacial surgery at the Children's Hospital of Philadelphia. METHODS: Only patients who underwent frontal orbital advancement and reconstruction, had at least 1 year of documented follow-up, and had the presence or absence of a bony defect documented on clinical examination were included. The sex, age at operation, diagnosis, history of a prior craniectomy, and presence or absence of a postoperative infection were determined for each patient. A variety of statistics were applied to the data. RESULTS: Eighty-one patients met the inclusion criteria. A statistically significant association between age at operation and closure of bony defect was demonstrated. Children who closed a bony defect after frontal orbital advancement and reconstruction were significantly younger than those children who had a persistent bony defect. Iterative regression analyses demonstrated that a transition point between closure and the inability to close bony defects occurred between 9 and 11 months of age. Closure of bony defects was not statistically associated with sex, prior craniectomy, an FGFR mutation, or a postoperative infection in the regression analysis. CONCLUSIONS: Healing of bony defects after frontal orbital advancement and reconstruction is significantly related to age at initial operation, with a mean age for closure of less than 12 months. Between 9 and 11 months of age, a change occurs that results in an increasingly lower probability of bony defect closure; thus, all other considerations being equal, initial frontal orbital advancement and reconstruction would ideally take place before this occurs.