ABSTRACT
Intrahepatic portosystemic anastomoses are macroscopic communications between the venous portal system and the systemic circulation and located partly in the liver. We report 4 new cases of type II shunts, which illustrate the circumstances of the diagnosis of these exceptional anomalies. For 2 children, the diagnosis was done antenataly by US and spontaneous involution in a few months was observed. In the third case the malformation was evidenced fortuitously at 3 weeks of life, and this 6-year-old child remains completely asymptomatic so far. Then, in the fourth case, a cerebral venous thrombosis was fortuitously and antenatally evidenced in an otherwise uneventful pregnancy and portosystemic shunt was demonstrated postnataly in the extensive work up of the neonate.
Subject(s)
Hepatic Veins/abnormalities , Portal System/abnormalities , Portal Vein/abnormalities , Vascular Fistula , Follow-Up Studies , Humans , Infant, Newborn , Intracranial Thrombosis/complications , Intracranial Thrombosis/diagnosis , Male , Time Factors , Ultrasonography, Prenatal , Vascular Fistula/complicationsSubject(s)
Eosinophils , Meningitis/complications , Adolescent , Animals , Child , Child, Preschool , Disease Vectors , Female , Humans , Male , Melanesia , Nematode Infections/complicationsABSTRACT
BACKGROUND: We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown to be caused by mutations in FLNB gene which maps on 3p14.3. METHODS: Comparative genomic hybridization (CGH) was performed to search for genomic imbalances. Fluorescence in situ analysis (FISH) was done with BAC clone RP11-754F19 probe from the FLNB gene region (3p14.3). RESULTS: CGH showed a large loss of the chromosome 5 short arm and a gain of half of the short arm of chromosome 3 resulting from a derivative chromosome 5. FISH analysis with FLNB probe demonstrated that it was not triplicated. Thus, we excluded the role of a gene dosage effect of FLNB in abnormal craniofacial development in this fetus. CONCLUSIONS: To our knowledge, this is the first report of Larsen-like phenotype associated with unbalanced translocation resulting in partial trisomy 3p and monosomy 5p.