Juan J. Gershanik

DiGeorge syndrome associated with combined immunodeficiency

An infant with DiGeorge syndrome—complete with typical facies, neonatal hypocalcemic tetany, right-sided aortic arch, cardiac defects, and absent thymic shadow—had immunologic deficiencies of both cell-mediated and humoral compartments. The cell-mediated deficit was partial in that in vitro lymphocyte responses to phytohemagglutinin were absent while responses to allogeneic cells in one-way mixed leukocyte cultures were normal after three weeks of age. Humoral immune deficiency was manifested by low or absent immunoglobulin levels, failure to produce antibodies following repeated immunization with killed polio vaccine, typhoid-paratyphoid, and peneumococcal polysaccharide antigen, and lack of in vitro lymphocyte responses to pokeweed mitogen. These studies suggest a diagnosis of “DiGeorge variant.” Thymus transplantation at 45 days of age was followed by full recovery of lymphocyte responses to phytohemagglutinin and pokeweed mitogen, an increase of immunoglobulin levels to within normal ranges, and rejection of two skin grafts. These changes were accompanied by the appearance of normal numbers of small lymphocytes and plasma cells, in bone marrow and intestinal lamina propria, respectively. The effect of thymus transplantation on the immunologic recovery in this patient cannot be determined.

Changing pattern of neonatal susceptibility to hemophilus influenzae

In a study of neonatal and maternal sera, bactericidal antibody to Hemphilus influenzae B was demonstrated in only 10 per cent of newborn infants (cord blood) and in 25 per cent of mothers. These data represent a reversal of the findings of Fothergill and Wright in 1933, when 90 per cent of the blood from neonates was shown to have bactericidal antibody to this organism. A shift in neonatal susceptibility to H. influenzae is suggssted by these results.

FANCONI'S ANEMIA IN A NEONATE

In the 44 years since Fanconi’s original description (2) in three male siblings, of a lethal familial anemia associated with microcephaly, brown skin pigmentation, hypogonadism, exaggerated reflexes and strabismus, over 150 cases have been added to the world literature. A broad range of embryonic developmental defects have been described in Fanconi’s anemia (4). This is a report of a case which demonstrates a singular combination of congenital anomalies with the early onset of hematologic manifestations and raises certain questions regarding variants of Fanconi’s anemia.

Serum ionized calciumvalues in relation to exchange transfusion

Other authors have emphasized that there is no single clinical sign which is pathognomonic for Downs syndrome. ~ The value of ear length measurement in differentiating Downs syndrome from other patterns of multiple malformations is not known. However, we have found this nonspecific diagnostic sign to be the most consistent clinical characteristic, aside from hypotonia, in making the clinical diagnosis of Downs syndrome.

The association of hypocalcemia and recurrent apnea in premature infants

Abstract Serum total calcium was measured from birth to 48 hours of age in 27 neonates under 1,751 grams. Fourteen developed recurrent apnea; 13 had no apnea and had an essentially uneventful nursery course. The minimum mean calcium value for all infants with recurrent apnea was 5.8 mg. per 100 ml. and occurred at 31 hours of age. The minimum mean calcium value for the infants with no apnea was 8.3 mg. per 100 ml. and occurred at 35 hours of age. The babies with recurrent apnea had consistently higher serum phosphorus and lower serum total protein values.

Combined System Immunodeficiency with Digeorge Syndrome and Dissociation of PHA/MLC Responses

Recent evidence of interactions between cells subserving the functions of the thymus-dependent cell-mediated immune system (T-cells) and cells of the bursal-dependent humoral immune system (B-cells) suggests cooperation between the two systems in immune responses to various antigenic stimulae (1). For this reason, a thorough evaluation of immunologic status of patients with the III-IV pharyngeal pouch syndrome of DiGeorge (2–7) is both timely and important in extending our understanding of T-cell/B-cell interaction in the immune response (3). As we sought to answer questions implicit in the T- and B-cell interactions in an infant with DiGeorge syndrome, it became apparent that our patient did not fit the immunologic criteria of this disorder. Instead, the picture encountered was one which has not been previously described. While this patient displayed all of the signs, symptoms and immunological abnormalities common to the DiGeorge syndrome, he also lacked plasma cells, immunoglobulins and all humoral immune responses were poor prior to transplantation.

The association of hypocalcemia with recurrent apnea of prematurity

Serum calcium, phosphorus, magnesium and total proteins were determined at 8 hour intervals during the first 48 hours of life in 27 neonates weighing under 1750 grams at birth, who were monitored for apnea. 14 babies developed recurrent apnea during the first 72 hours of life. The remaining 13 neonates had no distress. None of the 27 babies received calcium during the period of sampling. Calcium values were grouped into 9 consecutive 5 hour intervals and the mean value of the calcium levels in each intervals was plotted using the mid-point of the 5 hour interval for time. Using the standard polynomial regression for a quadratic response, the apneic subjects showed a decrease in calcium values to a level of 5.9 mgm./100 ml. at 32 hours of age. The minimum mean calcium value for the non-apneic babies was 8.3 mgm./100 ml. at 32 hours of age. Apenic babies had higher phosphorus values and lower total serum proteins than the non-apneic babies. Recurrent apnea was associated with an increased maternal age and a higher incidence of previous abortion. Apneic babies had higher incidence of 1 min. Apgar below 5 (75% vs. 30%). Apneic spells developed in most of the cases during the first 24 hours of life (22.1 hours average). Thus, for the most part of the onset of apnea precedes the development of hypocalcemia. Calcium urinary losses were similar in both groups. Calcium therapy appeared to reduce the number of apneic spells in 6 out of the 14 infants.