Neonates liver abnormalities

Selection of patients is a cumbersome task. The most severely affected patients, i.e. those with the neonatal Zellweger syndrome, display characteristic dysmorphic signs including a broad forehead and an enlarged fontanel. They are extremely hypotonic, have liver abnormalities and may have renal cysts. On the other hand there is a whole range of milder presentations. Retinitis pigmentosa and hearing loss may be important clues. 

This review, as its title implies, is not interested in the wide spectrum of abnormal blood levels of copper which may be found in many conditions these aspects of disturbed copper transport have been reviewed by Scheinberg and Sternlieb [3]. The concentration of caeruloplasmin is low at birth 2ind remains low for about the first three months of life, representing one more facet of the functional immaturity of the foetal and neonatal liver [12, 41]. This low concentration of caeruloplasmin in the serum at birth is associated with a high concentration of copper in the liver this excess copper is stored... 

Hyjjerbilirubinaemia is an abnormality observed mainly in neonates in whom the liver is insufficiently developed to be able to detoxify the bile pigment bilirubin. This situation is known as neonatal jaundice and can sometimes become a serious disease causing neurotoxic symptoms. Bilirubin is produced by the degradation of heme [the Fe(II) complex of protoporphyrin IX] by heme oxygenase to give biliverdin, which is reduced by biliverdin reductase to... 

The efficacy and safety of fluconazole in neonates with Candida fungemia has been evaluated in a multicenter prospective study (65). Fluconazole was safe and effective even in complicated cases, including infants of very low birth weights. Two of 50 neonates developed raised liver enzymes during fluconazole therapy and two others had raised serum creatinine concentrations. In none of them did these abnormalities necessitate discontinuation of antifungal therapy. 

Among 25 infants born after 27 pregnancies in tacrohmus-treated liver transplant patients there was an unexpectedly low incidence of hypertension, pre-eclampsia, and ahograft function abnormalities, whereas preterm delivery, low birth weight, and transient mUd renal impairment with hjrperkalemia in neonates occurred at a similar rate (99). 

Diagnostic difficulties may arise due to the fact that patients suffering from pyogenic infections may develop abnormalities of liver function tests, including serum alkaline phosphatase elevation, without obvious sepsis in the liver itself. This is a well-recognized phenomenon in the neonatal period and early childhood (B17), but it has also been reported in adults with systemic bacterial infections (E9). Hyperphosphatasemia is usually not marked in such patients (V5). 

Livers of double nulls were also frequently damaged in both neonates and E15 embryos. Apoptotic signals indicative of cell death were increased in damaged areas of the double-null liver. Interestingly, in double-null mice, abnormal morphologies were not apparent in other tissues, such as heart, small intestine, or pancreas. 

Perforation is most reliably demonstrated on abdominal plain films if taken in two directions. A supine film (Fig. 5.11) will demonstrate an abnormal lucency in the upper abdomen with gas outlining the right lobe of the liver, both sides of the wall of the stomach and bowel loops. The falciform ligament may be visible in the upper abdomen. In the newborn, a left-side down decubitus film will demonstrate free air between the liver and peritoneal wall, which is almost certainly impossible to confuse with intraluminal air. In case of an unstable neonate, a cross-table lateral view is preferred, but it can mask free air behind intraluminal air, unless the so-called triangle sign (Fig. 5.12) is present. 

Neonatal jaundice occurs in a newborn baby due to deposition of yellow pigment bilirubin in brain cells and skin because of abnormal liver function. It occurs due to rapid breakdown of hemoglobin to bUimbin in red blood cells compared to breakdown of bilimbin in liver. Untreated baby suffers from the damage of central nervous system. For treatment of this disease, the affected baby is subjected to phototherapy with visible bluish-green light. 

Diagnosis of the 4 inborn errors of bile acid synthesis discussed in this chapter is important because three are treatable by oral bile acid supplementation (such treatment was not successful in the single reported case of oxysterol 7a-hydroxylase deficiency). Liquid secondary ion mass spectrometry (LSI-MS) is a simple and rapid method which can be used to screen urine samples for abnormal cholanoids (bile acids and bile alchohols). It should be applied to neonates with unexplained cholestatic liver disease, particularly if familial and associated with steatorrhoea and fat-soluble vitamin malabsorption, to infants and children with developmental delay whether or not this is associated with specific features suggestive of a peroxisomal disorder (e.g. hypotonia, seizures, dysmorphic features, ocular and auditory abnormalities and hepatic dysfunction) or CTX (e.g. juvenile cataracts). 

---