Living-related donor liver transplantation for children with fulminant hepatic failure in Israel.

BACKGROUND: Liver transplantation is considered the treatment of choice for most children with deteriorating fulminant hepatic failure (FHF). Living-related donor liver transplantation (LDLT) has been suggested as an alternative to cadaveric liver transplantation to overcome the shortage of organ donors. However, experience with LDLT for children with FHF is limited in the Western world. OBJECTIVE: To present the experience with LDLT for children with FHF in a major referral center in Israel. METHODS: The files of all children who underwent primary LDLT for FHF were reviewed for demographic, clinical, and laboratory parameters before and after transplantation. RESULTS: : During 1996 to 2007, 13 children diagnosed with FHF underwent primary LDLT. Median age was 4 years (range 0.75-14 years); the causes of FHF were acute hepatitis A in 4 patients and were unknown in 9 patients. Short-term complications, documented in 12 children, included mainly hepatic artery thrombosis (n = 5), which warranted retransplantation in 3 cases, and biliary leaks (n = 3). Three patients died within the first month after LDLT of severe intraoperative bleeding (n = 1), severe brain edema (n = 1), and multiorgan failure (n = 1). Long-term complications were less common and included mainly ascending cholangitis (n = 3). Patient survival rate was 68% at 1 year and 57% at 5 years. None of the donors had long-term complications. CONCLUSIONS: Among children with FHF, LDLT can serve as a timely and lifesaving alternative to cadaveric donation, and could reduce the dependence on cadaveric livers in this setting.

Neurological manifestations of folate transport defect: case report and review of the literature.

Folate is essential for normal brain development. This report describes a 15-month-old boy who presented with generalized and focal seizures and a decline in mental status. Laboratory tests revealed low folate levels in blood (1.13 nmol/L) and cerebrospinal fluid, accompanied by pancytopenia. Bone marrow aspiration confirmed the presence of megaloblastic anemia. Treatment with high-dose intravenous folinic acid led to normalization of cerebrospinal folate levels. These findings apparently indicate a defect in folic acid transport to the central nervous system. A clinical picture of developmental arrest, seizures, somnolence, and megaloblastic anemia should alert physicians to the possibility of folate deficiency.

Thiamine deficiency in infants: MR findings in the brain.

BACKGROUND AND PURPOSE: Thiamine deficiency is extremely rare in infants in developed countries. To our knowledge, its MR findings in the brain have not been reported. The purpose of this study was to investigate the brain MR findings in infants with encephalopathy due to thiamine deficiency. METHODS: The study group included six infants aged 2-10 months with encephalopathy who had been fed with solely soy-based formula devoid of thiamine from birth. All underwent MR evaluation at admission and follow-up (total of 14 examinations). In one patient, MR spectroscopy (MRS) was performed. RESULTS: In five patients T2-weighted, fluid-attenuated inversion recovery, or proton-attenuated sequences showed bilateral and symmetric hyperintensity in the periaqueductal area, basal ganglia and thalami. Five had lesions in the mammillary bodies, and three, in the brain stem. In all six patients, the frontal region (cortex and white matter) was clearly involved. At presentation, MRS of the periaqueductal area showed a lactate doublet. On long-term follow-up, three of four patients had severe frontal damage; in two, this occurred as part of diffuse parenchymal loss, and in one, it was accompanied by atrophy of the basal ganglia and thalami. CONCLUSION: Thiamine deficiency in infants is characterized by involvement of the frontal lobes and basal ganglia, in addition to the lesions in the periaqueductal region, thalami, and the mammillary bodies described in adults. MRS demonstrates a characteristic lactate peak.

Postnatal management of resolving fetal lung lesions.

OBJECTIVES: Lung lesions are increasingly diagnosed since the advent of routine prenatal ultrasound. These lesions seem to involute in 15% to 30% of cases. Postnatal evaluation is frequently limited, particularly when repeated ultrasound or initial chest radiographs are normal. As careful follow-up or resection may be required, accurate diagnosis is essential. The objective of this study was to determine whether prenatal lung lesions that seem to resolve are still present when evaluated more closely. METHODS: We followed 24 cases of prenatally diagnosed lung lesions at our center, using repeated chest radiographs and chest computerized tomography (CT). RESULTS: Some lesions caused mild mediastinal shift, but none showed hydrops fetalis. In 7 cases, the last prenatal ultrasound was negative. In 15 cases, initial postnatal chest radiograph was normal and in only 4 of these, the lesion was seen on later chest radiographs. This apparently high rate of resolution was, however, misleading. In 22 of the 23 cases in which CT was performed, lung cysts or lobar overinflation was clearly demonstrated. CONCLUSIONS: Apparent involution of lung lesions on serial prenatal ultrasounds or neonatal chest radiograph can be misleading. We strongly recommend repeated radiographs and chest CT for definitive diagnosis in all cases.