William C. Yakovac

Persistent jaundice in infancy

I have collected the opinions of a number of pediatricians and pediatric pathologists regarding the causes of persistent jaundice during infancy. Most would discard the term “inspissated bile syndrome”, but there is less unanimity regarding the meaning of “neonatal hepatitis”, the significance of giant cells in the liver, and the value of needle biopsies. The many causes of infantile jaundice are mentioned, and hepatic physiology during the neonatal period is discussed. Finally, a program is outlined for the study of the infant with persistent jaundice. The value of the determination of the excretion of radioactive rose bengal in differentiating complete biliary atresia from other causes of jaundice is emphasized.

Fatal disseminated osteomyelitis due to an anonymous mycobacterium

Summary An instance of fatal disseminated osteomyelitis in a 19-month-old Negro infant due to a nonphotochromogenic mycobacterium (Batteys bacillus) is presented together with a brief review of the pertinent literature. In addition the ability of infections due to these organisms to mimic other entities primarily involving the reticuloendothelial system is stressed.

Beta cell adenoma in a child with hypoglycemia controlled with diazoxide

The clinical course and laboratory investigations of a child with a beta cell adenoma of the pancreas are presented. The onset of both fasting and reactive hypoglycemia at age 39/12 years suggested the diagnosis. Inappropriately elevated serum insulin levels at the times of hypoglycemia were documented in the fasting state and after administration of glucose, tolbutamide, and leucine. The blood glucose concentration was well controlled for 11 months preoperatively with diazoxide therapy, an observation not previously reported in childhood. Although selective celiac arteriography did not demonstrate the lesion, a small nodule was palpable at surgery and was removed by partial pancreatectomy. The beta cell origin was confirmed histologically, and electron microscopy revealed excessive insulin granulations within the neoplastic cells. Postoperatively, the previous abnormalities of fasting and reactive hypoglycemia have disappeared.

A metabolica and anatomic study of a case of Noonan's syndrome with intestinal lymphangiectasia

Major cardovascular anomalies and cutaneous lymphatic defects have been described in both Noonans and Turners syndrome.A 6½ year old male presented with anasarca, chylous pleural effusions, cutaneous lymphatic leakage, ascites and hypoproteinemia. Studies revealed findings consistent with the diagnosis of intestinal lymphangiectasia and a major thoracic lymphatic vessel leak. Investigations included X-ray studies of small bowel, Cr51-chloride turnover, stool fat analysis, small bowel biopsy, and effusion studies for electrolytes, cells, lipoprotein electrophoresis and chylomicron analysis. Low lymphocyte counts and immunoglobulins were also found.Medium chain triglycerides and a low fat diet corrected the protein loss but a seemingly mild pre-existing cardiac lesion worsened, and dictated the need for corrective pulmonary valve surgery. He died following this procedure.Post mortem studies revealed severe defects in most of the mesenchymal components of cardiovascular organogenesis. Large lympho-venous shunts were present in the lung, liver and pancreas.The lymphatic defects int hese patients may not be as benign as once believed, and may be a major cause of failure to thrive.

Production of congenital adrenocortical hyperplasia in rats by inactivation of Δ5, 3β-hydroxysteroid dehydrogenase (3β-HSD)

Varying daily doses of a steroid inhibitor of fl-hydroxysteroid dehydrogenase, 2a-cyano-4,4,17atrimethylandrost-5-en-17a-ol-3-one, were administered to pregnant rats on the fifteenth to twentieth days of gestation to determine whether this inhibitor could produce the biologic manifestations of the human disease associated with deficient activity of this enzyme. Infants with this disorder have hyperplastic adrenal cortices deficient in activity of 3fi-HSD, incomplete penile development in males resulting in hypospadias with shortening of the anogenital distance, and clitoral hypertrophy without urethral orificial displacement in females. The external sex (anogenital distance) and gonadal sex (presence of ovaries or testes) of experimental fetuses from females receiving the inhibitor were compared to suitable controls. The experimental fetuses had adrenal cortical hyperplasia (5.9 -2_ 1.32 versus 2.2 -+ 26 rag.), deficient histochemical activity of 3fl-HSD in adrenals, testes, and placentas, and no change in histochemical activity of 3aor 17B-HSD. The anogenital distance in males was reduced from the normal of 2.88 -+ 0.12 to 1.26 ± 0.08 ram. in proportion to dose. The females had clitoral hypertrophy but no change in anogenital distance from the normal of 1 mm. This study thus demonstrates an experimental model for the production of the congenital manifestations of this inborn error of metabolism.