Differential Diagnosis Of Infants Research Articles

Clinical Application of Dih‐drotestosterone (DHT) Binding Assa‐ of Cultured Skin Fibroblasts for the Prospective Differential Diagnosis of Testicular Feminization S‐ndrome (TFS)

AbstractThe present stud‐ was conducted to evaluate the usefulness of dih‐drotestosterone (DHT) binding assa‐ of skin fibroblasts for the differential diagnosis in infants of testicular feminization s‐ndrome (TFS) from other disorders with genital anomalies. DHT binding was measured in the fibroblasts derived from the patients with intersex or genital anomalies such as TFS, incomplete TFS, pure gonadal agenesis, retentio testis, Klinefelter's s‐ndrome, testicular d‐sgenesis, adrenogenital s‐ndrome, and Turner's s‐ndrome. All patients except the TFS patients exhibited normal binding capacit‐ in fibroblasts from either genital or nongenital skins. The patients with TFS were 3 and 6 ‐ear‐old siblings whose diagnosis had not been made completel‐ b‐ g‐necological examination and routine laborator‐ tests, but the binding assa‐ contributed to making the exact diagnosis of these patients. DHT binding of skin fibroblasts from normal males and females was 11.5±8.6 (S. D.) fmoles/mg cell protein in nongenital skin, whereas the DHT binding assa‐ of these patients showed that the maximal number of binding sites was under 0.5 fmoles/mg cell protein. These results suggest that DHT binding assa‐ of skin fibroblasts is useful also for the prospective differential diagnosis of TFS in infant and prepubertal patients and that treatment for TFS might be planned from infanc‐.

Segmental colonic atresia - a contribution to the differential diagnosis of ileus in the newborn (author's transl)

Segmental atresia of the colon is regarded as an urgent emergency in the neonatal period and quick diagnosis and surgical interference are necessary. In spite of the rarity of this condition it could be thought about in the differential diagnosis in infants with relevant symptoms and can be diagnosed by simple means. The author's own technique is described in relation to the case of atresia of the transverse colon. The aetiology, classification, clinical picture, diagnosis and treatment are discussed. The prognosis depends very much on early diagnosis.

Antenatal intestinal perforation and meconium peritonitis associated with the neonatal small left colon syndrome.

Although NSLCS has been considered to have a benign course, we have described an infant who had intrauterine intestinal perforation and meconium peritonitis associated with the NSLCS. Infants of diabetic mothers who are stillborn or who develop abdominal distention shortly after delivery should be suspected of having this complication of NSLCS. This disorder must also be considered in the differential diagnosis of infants who present with meconium peritonitis.

Neonatal Bromide Intoxication : Prenatal Ingestion of a Large Quantity of Bromides With Transplacental Accumulation in the Fetus

A 27-year-old woman who was 34 weeks pregnant was admitted in a semicomatose state. Five days later she gave birth to an infant who demonstrated significant CNS depression. Elevated blood levels confirmed bromide intoxication in both the mother and infant secondary to chronic maternal bromide ingestion (Nervine). Simultaneous determinations revealed a higher initial serum bromide level in the infant compared to that of the mother in spite of a subsequent more rapid rate of disappearance in the neonate. It is suggested that the drug history obtained from the pregnant woman include nonprescription medications containing bromides. This possibility should also be included in the differential diagnosis in infants exhibiting evidence of CNS depression, particularly those born to mothers classified as neurotic or psychotic.

Cardiac involvement in Sandhoff's disease: Inborn error of glycosphingolipid metabolism

Two siblings with Sandhoff's disease manifested clinical and laboratory evidence of significant cardiomyopathy. Postmortem examination of the hearts of both patients revealed anatomic, biochemical and ultrastructural abnormalities resulting from deficient activities of the enzymes hexosaminidase A and B. A study of the biochemical and ultrastructural changes in the hearts revealed the accumulation of the glycosphingolipid globoside in all cardiac tissues. The necropsy findings indicate that Sandhoff's disease should be considered in the differential diagnosis in infants with cardiomyopathy or mitral insufficiency.

THE CYANOTIC INFANT???HEART DISEASE OR LUNG DISEASE

Abstract To determine whether differential diagnosis in infants with cyanosis of uncertain etiology may be facilitated without requiring cardiac catheterization, the Pao2, Paco2, pH and bicarbonate of aortic blood were measured in 28 cyanotic infants. Measurements were made 10 to 15 minutes after the infant has breathed oxygen at a concentration of 0.9 to 1.0 at atmospheric pressure, and again 10 to 15 minutes after breathing the same concentration of oxygen under a positive end-expiratory pressure of 8 to 10 cm of water. In seven with subsequently proved cardiac disease, Pao2 fell 33 mm Hg on the average, whereas Paco2 rose 9 mm Hg. In 21 infants with subsequently proved lung disease, Pao2 rose an average of 141 mm Hg, whereas Paco2 did not change. Thus, a simple procedure is available to help differentiate cyanosis of cardiac from that of pulmonary causation; it permits earlier diagnosis of the former and avoids the risks of cardiac catheterization in the latter.

Needle Biopsy of the Liver

The differential diagnosis of infants with prolonged obstructive jaundice is usually puzzling and often in error. 1 The differentiation between obstruction to the outflow of bile on the basis of hepatocellular disease and that due to atresia of the extrahepatic bile ducts is made difficult by a variety of factors. Among these are the frequency with which hepatitis leads to prolonged, essentially complete obstruction to the outflow of bile into the intestinal tract, 2,3 the poor correlation between the results of the commonly used tests for hepatic parenchymal cell damage (flocculation, turbidity 1 and transaminase tests 5 ), and the disease process affecting the patient. The unreliability of histories concerning the time of onset of jaundice and the character of stool color, 1 as well as the results of chemical tests for bile pigments in urine and stool, may also lead to error in diagnosis. 1,4 These facts have been more

OBSERVATIONS OF A METABOLIC LESION IN COW'S-MILK ALLERGY

Clinical and metabolic studies of two infants allergic to cow's milk are described. In both babies episodes of clinical deterioration culminating in a cyanotic, peripheral circulatory shock-like state were repeatedly observed upon exposure to cow's milk. Despite clinical evidence of diminished circulatory volume, chloride space measurements suggesting increase in extracellular fluid volume at the expense of intracellular fluid were associated with the allergic reaction. Balance data indicate that external losses of sodium and water were small, and internal accumulation of potassium large, at the height of development of the metabolic disturbances. The metabolic responses are discussed with reference to possible mechanisms of production. It is evident that further experimental work is required for their elucidation. However, these studies indicate that allergy should be considered in the differential diagnosis in infants who show metabolic derangements which may superficially suggest primary renal or adrenal disease.