| jaundice is a common clinical problem in newborns. Although the need to diagnose and treat hyperbilirubinemia in the healthy term newborn has been controversial, recent reports of detrimental neurologic effects from elevated serum bilirubin levels in the healthy newborn make such scrutiny prudent. Until 1994, when the American Academy of pediatrics developed guidelines for managing hyperbilirubinemia in the healthy term newborn, no standard of care was defined. ( info) |
2/145. color Doppler sonography in the diagnosis of neonatal intrahepatic portosystemic shunts. Intrahepatic portosystemic shunts are infrequent in children. We report 3 cases of neonates who presented with jaundice during the first month of life. color Doppler sonography in the first 2 cases showed direct communication between the right portal and hepatic veins. Both infants were asymptomatic, and the shunts disappeared spontaneously. The third case involved several shunts and an aberrant medial portal vein. This patient developed heart failure and died after surgery. color Doppler sonography was useful in the diagnosis and follow-up of the shunts in all 3 cases. ( info) |
3/145. Otoacoustic emissions and auditory brainstem responses after neonatal hyperbilirubinemia. Severe hyperbilirubinemia often results in hearing loss. Behavioral audiometry, auditory-evoked brainstem responses (ABRs) and otoacoustic emissions (OAEs) were performed in three such patients in an attempt to localize the pathophysiology of this hearing loss. Behavioral audiometric findings in these patients (all male, 4, 15 and 25 years old) ranged from severe in the 4-year-old, moderate in the 15-year-old and slight in the 25-year-old. Where obtained, ABR wave V thresholds were elevated or ABR were absent. However, absolute and inter-wave latency measurements were not indicative of brainstem pathology. OAEs (transient and distortion product) could only be obtained in the high- or low-frequency ranges in these patients. Our findings suggest that at least some lesions producing hearing loss in severe hyperbilirubinemia are in the cochlea, especially at the outer hair cells. Finally, we found that only moderately elevated serum bilirubin levels (<20 mg/dl) may contribute to the development of sensorineural hearing loss. ( info) |
4/145. 'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ. A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals. ( info) |
5/145. alpha1-Antitrypsin deficiency and liver disease in children. This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum alpha1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that alpha1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis. In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe alpha1-antitrypsin deficiency is well illustrated by these two infants. ( info) |
6/145. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. adult-onset type II citrullinemia may be associated with infantile cholestatic disease. ( info) |
7/145. Cholestatic syndromes of infancy and childhood. cholestasis results from structural and functional impairment of the hepatobiliary system, which is often the target of several environmental factors and disease processes. This review focuses on the clinical consequences of this impairment. When evaluating an infant or child with cholestasis, a broad differential diagnosis must be considered; viral infections, metabolic disorders, and toxic insults may often lead to cholestasis. In the infant, cholestasis associated with severe hepatic synthetic dysfunction points to life-threatening metabolic disorders. In this setting, early diagnosis and prompt treatment offer the only chance for survival. Fortunately, cholestasis in infants presents more frequently with initially normal liver synthetic function. In those infants without evidence of infection, evaluation for patency of the extra-hepatic biliary system is a high priority. biliary atresia comprises a significant portion of these patients and requires surgical intervention with portoenterostomy in an attempt to improve biliary flow. In a substantial group of infants and older children in whom the cause for cholestasis is not apparent, typical clinical and biochemical markers may allow the identification of specific genetic defects of syndromes that result from abnormal canalicular transporters. ( info) |
| Two premature female infants had severe hyperbilirubinemia caused by hemolysis. Both neonates were heterozygotes for the glucose-6-phosphate dehydrogenase Mediterranean mutation as determined by dna analysis. glucose-6-phosphate dehydrogenase-deficient heterozygotes may be susceptible to the complications of this enzyme deficiency. ( info) |
9/145. Upshaw-Schulman syndrome revisited: a concept of congenital thrombotic thrombocytopenic purpura. Upshaw-Schulman syndrome (USS) is a congenital bleeding disorder characterized by repeated episodes of thrombocytopenia and microangiopathic hemolytic anemia that respond to infusions of fresh frozen plasma. Inheritance of USS has been thought to be autosomal recessive, because 2 siblings in the same family are often affected but their parents are asymptomatic. Recently, chronic relapsing thrombotic thrombocytopenic purpura (CR-TTP), reported almost exclusively in adults, was shown to be caused by inherited or acquired deficiency in the activity of a plasma von willebrand factor-cleaving protease (vWF-CPase). The pathogenesis of USS is unknown, and a relationship between CR-YEP and USS has not been reported. We studied 3 unrelated USS patients (ST, SY, and KI) who presented with severe indirect neonatal hyperbilirubinemia. All 3 patients had undetectable vWF-CPase activity, and the inhibitors to vWF-CPase were all negative. In their parents with no clinical symptoms, vWF-CPase activities as a percentage of control samples (mother/father) were 17/20 for ST, 60/45 for SY, and 36/5.6 for KI. Thus, USS and vWF-CPase activity appear to be coinherited as autosomal recessive traits. Transfusion of fresh frozen plasma in 2 patients (ST and SY) resulted in the expected maximal increment of approximately 7% to 8% in vWF-CPase activity at 1 to 4 hours, but the levels became less than 3% within 2 days. After this decrease, platelet counts increased, plateaued in the normal range at 10 to 12 days, and declined thereafter. Thus, the 2 to 3 weeks of therapeutic benefit from plasma infusions will be discussed in relation to the intravascular lifetime of vWF-CPase. ( info) |
10/145. biliary atresia and the Dandy-Walker anomaly in a neonate with 45,X Turner's syndrome. A case is described of a neonate with Turner's syndrome (45,X) whose clinical course was complicated by jaundice. autopsy findings included intraphepatic biliary atresia, coarctation of the aorta of the infantile type, and the dandy-walker syndrome. ( info) |