1997 : Miscarriage (9 weeks)
Fetal hydrops with severe dysmorphism forced termination of pregnancy in 18th week (D&C procedure). Ultrasound showed light hydramnios and intrauterine growth retardation (IUGR) of male fetus (about 15 weeks). At first, abnormalities of some fingers and toes was attributed to amniotic band syndrome but no constriction ring was found. Then skin could become detached because of fetus maceration.
Clinical synopsis :
According to the pathologist, abnormal situs could suggest a right but incomplete isomerism. This kind of heterotaxy (defects of lateralization) is also called Ivemark Syndrome.
Microscopically (despite marked autolysis) :
Termination of pregnancy was performed as well in the case of female fetus at 17 weeks of gestation because of hydrops with intrauterine growth retardation (IUGR about 13 weeks). But the pathologist could not compare this one to the first one because of D&C procedure. The only features are tapering fingers and toes (typical of hydrops), normal umbilical cord (10 cm), aplasia of umbilical artery. However, one ultrasound negative reveals abnormal profile with receding forehead and retrognathia ; which could be the same dysmorphic syndrome as in 1998.
The question still remains unsolved
A determining cause was not discovered, despite chromosomal tests (normal karyotypes of parents and babies) and viral analyses (toxoplasmosis, rubella, herpes, CMV, parvovirus B19 for IgM, direct Coomb negative).
In both cases, myocardial fibrosis and nucleomegaly could suggest a myocardiopathy : rhabdomyomatosis (rhabdomyoma) or lipidic storage as described in histiocytoid cardiomyopathy (some forms are linked to mitochondrial pathologies).
In case of recurrence, every metabolic disease involving mitochondria or cholesterol (Smith-Lemli-Opitz syndrome) should be ruled out.
IUGR, i.e. microcephalic dwarfism, dysmorphic facies and hypoplasia of the fibula for the first fetus may raise the possibility of Seckel Syndrome. But the X-Ray is not good enough to show hands and feet bones in detail. Consequently, this diagnosis is not reliable.
Although no common aetiology between these pathologies was found in the literature, there may be a vital lead...
Any information or previous experience would be very helpful and more than appreciated.
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