Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare inborn error of mitochondrial fatty acid metabolism associated with various phenotypes. Whereas most patients present with postnatal signs of energetic failure affecting muscle and liver, a small subset of patients presents antenatal malformations including brain dysgenesis and neuronal migration defects. Here, we report recurrence of severe cerebral dysgenesis with Dandy-Walker malformation in three successive pregnancies and review previously reported antenatal cases. Interestingly, we also report that acylcarnitines profile, tested retrospectively on the amniotic fluid of last pregnancy, was not sensitive enough to allow reliable prenatal diagnosis of CPT2 deficiency. Finally, because fetuses affected by severe cerebral malformations are frequently aborted, CPT2 deficiency may be underestimated and fatty acid oxidation disorders should be considered when faced with a fetus with Dandy-Walker anomaly or another brain dysgenesis.

[Elevation of cardiac biomarkers after strenuous physical exertion]. / Elévation des biomarqueurs cardiaques après un effort physique intense.

We present the case of a patient who felt faint after a strenuous exercise. A coronary angiography was performed because of an elevated level of troponin, but it failed to demonstrat any significant coronary stenosis. We discuss the effect of strenuous exercise on cardiac biomarkers. Most previous published studies involved young trained populations. The frequency of these abnormalities in older, less trained people is unknown. Moreover, the possible impact of these abnormalities on mid- or long-term outcome is a matter of debate. Seniors practising intensive sport activities should systematically be submitted to a cardiological evaluation.

[Cerebral toxoplasmosis complicating an allograft with hematopoietic stem cells from peripheral blood]. / Toxoplasmose cérébrale compliquant une mini-allogreffe de cellules souches hématopoïétiques du sang périphérique.

We report the occurrence of a cerebral toxoplasmosis 52 days after a non-myeloablative allogeneic stem cell transplantation as treatment for acute myeloid leukemia.

Prenatal diagnosis of trisomy 6 mosaicism.

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge.

Prenatal ultrasound detection of congenital cataract in trisomy 21.

A 45-year-old woman underwent serial ultrasound screening procedures during late first and second trimesters of pregnancy for advanced maternal age. Cultured amniocytes karyotype indicated full trisomy 21. Subsequently, the fetus developed congenital cataract diagnosed at 24 weeks. This is the first antenatal diagnosis of this complication of Down syndrome.