Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination.

Type VII mucopolysaccharidosis is a very rare recessive lysosomal storage disease. We diagnosed a type VII MPS in a case of severe fetal hydrops after pregnancy termination at 23 weeks of gestation. The diagnosis was suspected on histopathological examination by the presence of foam cells in many viscera and foamy placental Hofbauer cells. Enzyme assay on cultured amniotic cells showed a markedly deficient beta-glucuronidase activity, thus confirming the diagnosis. This report shows the importance of a precise necropsy diagnosis in nonimmune hydrops because of putative implications for genetic counseling and prenatal diagnosis in subsequent pregnancies

Are we genetically predisposed to addictions?

peer reviewedIs free will the rule in front of drugs, alcohol or gambling? Would interindividual genetic variations influence our behaviour to such a point that addiction susceptibility would be enhanced or decreased? Addiction predisposition is a complex trait, involving numerous predisposition genes and also environment. Heritability of this trait is 50%, meaning a similar contribution of genes and environment in the setting of this trait. Some genes of the dopaminergic system and some others specific for various drugs metabolism have been associated to addictions. The growth of those findings into promising pilot treatments seems a good future coming in

X-linked hydrocephaly. A case report in fetal medicine

peer reviewedX-linked hydrocephaly (Li Syndrome) is a rare cause of hydrocephaly. It is, however, the most common genetic form of congenital hydrocephaly and consists of the association of hydrocephaly, mental retardation, leg spasticity and adducted thumbs. The phenotype is variable. A mutation of the LICAM gene is known to be the aetiology of the syndrome. We present an antenatal case managed in our department

Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.

The occurrence of mosaic ring chromosome 13 is rare. The mechanism of ring chromosome formation is usually associated with loss of genetic material. We report 2 cases of mosaic ring chromosome 13, resulting in deletion of 13qter. The first patient, a 15 year-old boy, presented a delayed psychomotor development, mental retardation, dysmorphic features and bleeding disorders associated with a de novo terminal 13q34 deletion. The second case was a foetus of 31 weeks with prenatal diagnosis of severe malformation such as holoprosencephaly, congenital cardiac defects, gastro-intestinal abnormalities with intrauterine growth retardation, the molecular analysis showed a de novo deletion encompassing the region 13q31.3-q34

Un cas de cirrhose néonatale sans surcharge en fer : hépatite alloimmune congénitale

Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown. Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its typical presentation can be as a severe neonatal liver failure with hepatic and extrahepatic iron overload, a clinical state called neonatal hemochromatosis. Methods. A pregnant woman was investigated for heterogeneous fetal hepatomegaly. Pregnancy was also complicated by fetal alloimmune thrombocytopenia. The newborn presented at birth with liver cirrhosis and mild liver dysfunction. Follow-up until 36 months showed progressive normalization of all liver parameters. All metabolic and infectious analyses were negative. Liver biopsy showed severe hepatitis with post-necrotic fibrosis and regenerative nodules. There was no iron overload. To search for immune injury, paraffine sections of the liver biopsy were stained with an antibody against the membrane attack complex (MAC, anti human c5b-9, Peter Whitington’s Lab, Children’s Memorial Hospital, Chicago, IL), the terminal complement cascade neoantigen occurring specifically in complement activation by the IgG-mediated classical pathway, and which is responsible for cell death. Results. Strong immunostaining against MAC-antigen was found in the liver of the patient, with 90% of target hepatocytes whereas in a control group of patients with other neonatal liver diseases, it was 10.8±12.5%. Because IgG in neonates originate only from the mother, it signs the alloimmune nature of the disease. Conclusion. For a long time, pathophysiology of neonatal hemochromatosis remained unsolved. Recently, it was elucidated as congenital alloimmune hepatitis. With this case, we expend the recognized clinical spectrum by showing that congenital alloimmune hepatitis can present as milder cases, without iron overload. It should be considered as a cause of unexplained neonatal liver disease, even in the absence of siderosis. Such diagnosis is of great importance regarding the necessity of immunotherapy in further pregnancies in order to avoid recurrence of alloimmune injur