Histologic Features of the Liver in Type Ia Glycogen Storage Disease: Comparative Study between Different Age Groups and Consecutive Biopsies

In this report, the histologic criteria for the diagnosis of type Ia glycogen storage disease (GSD) in a wide age range were studied. Liver needle biopsies of 44 patients with type Ia GSD confirmed by enzyme analysis were re-evaluated and compared. Fatty change, nuclear hyperglycogenation (NH), and fibrosis were examined and graded. The second biopsies of 14 patients were also evaluated and compared with the first ones. The patients were grouped according to age: group I: <1 year (18 cases), group II: 1–5 years (19 cases), group III: >5 years (7 cases). A mosaic pattern was detected in all biopsies. The amount of fibrosis in group I was less than that in the other two groups. The fatty change in group I was more prominent. There was not much difference in the amount of NH between age groups. In comparing the two different biopsies of 14 patients, the amount of fibrosis was found to be increased in 7 cases. NH was also increased in a different group of 7 patients. These findings were both statistically significant. The amount of fatty change was minimal in most of the cases. Fibrosis is associated with types III, IV, VI, IX, and X GSD. Our results support previous studies stating that fibrosis may also be present and varies in extent in type I GSD. Fatty change as large lipid vacuoles and NH may not be seen in many cases of type I GSD. Therefore, histologic criteria for the diagnosis of GSD may not be specific, and enzyme analysis should be performed. Received March 14, 2001; accepted February 8, 2002.     

小儿亲体部分肝移植二例报告

肝移植是挽救终末期肝病患儿惟一有效的方法,目前在我国刚刚起步,多以尸体肝移植为主。我院成功开展两例亲体肝移植,现报告如下：     

Nodular Regenerative Hyperplasia of Fetal Liver: A Report of Two Cases

Nodular regenerative hyperplasia in the liver is characterized by diffuse nodularity of the organ secondary to regenerative hepatocellular activity. This alteration is rare in infants and children. We present two cases of nodular regenerative hyperplasia found in fetuses that exhibited several other malformations, sirenomelia and features of schisis association in one and Poland's sequence in the other.     

Liver transplantation from living related donors

OBJECTIVES: To present the experience with the first 12 living related liver transplants performed at Hospital Sírio-Libanês in S?o Paulo. METHODS: The donors were the fathers (6) and the mothers (6) with age ranging from 30 to 48 years. All candidates for donation were submitted to a full informed consent form, clinical and radiological evaluation and had blood withdrawn for autotransfusion. Recipient age ranged from 7 months to 10 years whereas recipient weight varied from 6.3 to 34 kg. Six patients were considered as high risk due to complications of advanced liver disease and were submitted to urgent transplantation. RESULTS: Mean donor hospital stay was 10 days with no mortality. Technical complications were observed in 4 recipients. Seven patients presented at least one episode of bacterial, viral or fungal infection. One or more biopsy proven rejection episodes were disclosed in 7 patients. Overall recipient survival was 67%, being 83% for elective cases and 50% for urgent cases. Long term follow up ranged from 8 to 25 months. Seven out of 8 survivors present excellent quality of life and normal liver function. The other patient is currently under reduced immunosuppression due to Epstein-Barr virus infection.CONCLUSIONS: These results demonstrate the safety and viability of living related liver transplantation which, in face of the current donor scarcity, should be considered as a valid option for the treatment of children with end stage liver disease.     

肝细胞生长因子治疗肝脏损害116例疗效观察

目的观察肝细胞生长因子(HGF)治疗肝脏损害患儿的效果。方法将肝脏损害患儿204例随机分成两组,对照组在治疗原发病同时,选用能量合剂保肝;治疗组在此基础上选用HGF保肝、降酶治疗,观察治疗过程中肝脏回缩及降酶效果。结果疗程结束后HGF治疗组丙氨酸氨基转移酶(ALT)、天冬氨酸氨基转移酶(AST)、总胆红素(TBIL)3项指标下降幅度明显大于对照组,治疗组总有效率达96.5%,而对照组总有效率为75.0%,治疗组明显优于对照组,有显著差异(χ2=5.27 P<0.05)。结论选用HGF治疗肝脏损害,可明显缩短病程,提高临床治愈率。     

Liver transplantation with monosegment from a living donor

The shortage of organ donors for low-weight liver transplant recipients, especially for small children, has led to the development of new surgical techniques to increase the donor pool. Almost all of these techniques use the left lateral segment (Couinaud's segments II and III), but even this graft could be too large for children under 10 kg. We report here the case of an 8-month-old boy, weighing 6.1 kg, who received a monosegmental graft (segment III) from his grandmother weighing 68 kg. The graft was reduced at the donor surgery, before clamping of the vessels. The donor was discharged on the fourth post-operative day; the recipient had an uneventful post-operative period and was discharged after 22 days.     

Two cases of glandular tularemia from Turkey

Tularemia is a bacterial zoonotic disease that is caused by Francisella tularensis. E tularensis is transmitted to humans by handling infected animals, ingestion of contaminated food or water, inhalation of infective aerosols, and arthropod bites. Tularemia outbreaks have been commonly reported in some areas of Europe, such as Sweden, Finland, Portugal, Spain, Kosovo, and Turkey. Tularemia has six different clinical forms, depending on the route of transmission. In Turkey, the most common type is the oropharyngeal form. We present two cases of glandular tularemia with inguinal lymphadenopathy, which is an uncommon manifestation of this disease in our country. The patients were treated with gentamicin for 10 days and completely recovered. Glandular tularemia should be considered in the differential diagnosis of inguinal lymphadenopathy.     

新生儿高胆红素血症对血糖测定方法准确性的影响

目的探讨新生儿高胆红素血症对两种测定方法检测血糖准确性的影响。方法新生儿高胆红素血症患儿131例,去除胆红素前后采用葡萄糖氧化酶(GOD)法测定血糖,同时以己糖激酶(HK)法作参考对照。结果高胆红素血症患儿用GOD法测定血糖水平,在去除胆红素前后两者血糖浓度有显著差异(P<0.01);用HK法测定血糖水平,去除胆红素前后两者血糖浓度无显著差异(P>0.05)。结论如用GOD法测定高胆红素血症患儿血糖,应先去除血清胆红素或用HK法。     

Clinical Utility of DNA Amplification and Sequencing to Identify a Strain of Mycobacterium avium in Paraffin-Embedded, Formalin-Fixed Biopsies from an Immunosuppressed Child

ABSTRACT Nontuberculous mycobacterial (NTM) infections are serious, though rare, in patients with severe combined immunodeficiency who have received bone marrow transplants. A 5-year-old female patient underwent stem cell/bone marrow transplant with disseminated NTM. Real-time polymerase chain reaction (PCR) using a fluorescence resonance energy transfer (FRET) probe for detection and identification of NTM was performed. The FRET-based real-time PCR assay amplified mycobacterial DNA, and the postamplification melt curve analysis classified the organism as a NTM. The pyrosequence of the hypervariable region A definitively identified the infecting organism as Mycobacterium avium. Real-time PCR along with melt curve analysis and pyrosequencing provides faster, definitive identification of mycobacteria, as compared to bacterial culture. In this case report, we emphasize the importance of utilizing molecular means for fast and accurate diagnosis.     

Total Parenteral Nutrition induced Liver Pathology: An Autopsy Series of 24 Newborn Cases

Total parenteral nutrition (TPN)-induced liver injury is a common complication in neonates managed with newborn intensive care. In several of these cases, irreversible and even fatal liver damage may develop, with patients dying of liver failure. In spite of multiple studies over several years, the pathogenesis of TPN-induced liver damage remains poorly understood. Clinical data from 24 neonates with clinical history of receiving TPN who died at Yale—New Haven Childrens Hospital and had autopsies performed, were collected by medical record review without knowledge of liver pathology findings. Liver histological sections from these patients were evaluated for multiple parameters without knowledge of the clinical course. Continuous data were analyzed by Wilcoxon signed-rank test and Mann-Whitney test, and dichotomous data by Fishers exact test; P < 0.05 was considered significant. Different histopathological abnormalities with varying degrees of severity were observed. A progression in the severity of histopathological changes in relation to duration of TPN administration (DTPN) was found. While patients with DTPN of < 2 wk had no fibrosis or only mild degrees of fibrosis, patients with more than 6 wk of DTPN developed moderate-to-severe fibrosis. Similar results were observed for cholestasis and bile duct proliferation. We did not find significant differences for birth weight, gestational age, occurrence of necrotizing enterocolitis, sepsis, or enteral feedings between the group with normal-to-mild liver changes (n = 16), and the group with moderate-to-severe liver changes (n = 8). On the other hand, DTPN was significantly different between these two groups (P = 0.008). Also, patients small for gestational age (P = 0.003) and patients with bronchopulmonary dysplasia (P = 0.001) were more commonly seen in the group with moderate-to-severe histopathological findings. Intracellular copper was detected in 12.5% of patients with moderate-to-severe liver changes, and was found in 50% of patients with normal-to-mild liver findings (P = 0.04). Detection of copper from tissue sections also decreased with DTPN, being observed in 57% of patients with < 2 wk DTPN and in none of the patients with > 12 wk DTPN. Our findings confirm the known significant relationship between the duration of TPN and liver injury. While previously described associations with birth weight, gestational age, enteral feedings, necrotizing enterocolitis, and sepsis were not noted, our study suggests that poor intrauterine growth may be a significant clinical risk factor for TPN-induced liver injury. In addition, our findings suggest that copper may have a protective effect against the development of TPN-induced liver damage.This study was presented in part at the Society for Pediatric Pathology, Spring Meeting, Atlanta, Georgia, USA, March 3–4, 2001.     

Undifferentiated (Embryonal) Sarcoma of the Liver: Ultrastructure, Immunohistochemistry, and DNA Ploidy Analysis of Two Cases

We describe the histopathologic, immunohistochemical, electronmicroscopic features, and DNA flow cytometric analysis of 2 cases of undifferentiated (embryonal) sarcoma of the liver. The tumor cells were found to be uniformly nonreactive to antibodies that identify cells belonging to the macrophagic-monocytic system. Focal expression of cytokeratin was an unexpected finding. We conclude that the observations are compatible with origin of this sarcoma from primitive mesenchyme. Uncertainty still exists about histogenesis, but the morphologic features of this neoplasm are quite characteristic. Both tumors demonstrate aneuploid stem lines with high S phase. Whether these findings are prognostically significant remains to be seen.     

Observation and reflection: An account of trans-cultural work in a student counselling service

Abstract

The infant observation material of a baby fed on one breast only led to thinking about collateral experiences inherent in the normal bilateral breast-feeding situation, such as the infant's perception of the symmetry of his own and his mother's body, and the tridimensional visual, auditory and tactile experience of his mother's presence.

Further thought is given to the numerous triangulations which are shaped spontaneously at the part-object level in the interaction between mother and baby. The material shows the particular difficulties of the weaning process, but reveals also how this baby who had missed the full experience at the breast created in his play more and more meaningful configurations which showed that he had been able to keep alive the preconception of the twoness of the breasts and other double body parts, and thereby to ‘nourish’ his mind with positive realizations which he could introject.     

Liver transplantation in an adolescent with acute liver failure from acute lymphoblastic leukemia

The most common identifiable causes of acute liver failure in pediatric patients are infection, drug toxicity, metabolic disease, and autoimmune processes. In many cases, the etiology of acute liver failure cannot be determined. Acute leukemia is an extremely rare cause of acute liver failure, and liver transplantation has traditionally been contraindicated in this setting. We report a case of acute liver failure in a previously healthy 15‐yr‐old male from pre‐B‐cell acute lymphoblastic leukemia. He underwent liver transplantation before the diagnosis was established, and has subsequently received chemotherapy for pre‐B‐cell acute lymphoblastic leukemia. He is currently alive 31 months post‐transplantation. The published literature describing acute lymphoblastic leukemia as a cause of acute liver failure is reviewed.