Porencephaly in an Italian neonate with foetal alcohol spect
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Foetal alcohol spectrum disorder (FASD) is a complex malformative disease caused by the teratogenic effect of alcohol consumed during pregnancy. Mothers are frequently reluctant to admit alcohol consumption during pregnancy.

An Italian neonate boy small for gestational age, was born at a gestational age of 37 weeks + 6 days by neglect and single-parent pregnancy. The mother had denied having taken alcohol and drugs during pregnancy. Birth weight was 2300 g (30th percentile), his birth height was 45 cm, his birth head circumference was 29 cm, and his Apgar score was 8/9. Only 1 prenatal ultrasound scan was given, and screenings for toxoplasma, rubella and cytomegalovirus infections were not performed. On physical examination, he presented particular facial features: microcephaly, epicanthal folds, flat midface, low nasal bridge, indistinct philtrum, and thin upper lip; moreover, examination revealed a macro-penis and recurvation without evidence of glans. Echocardiogram showed an inter-ventricular defect of medium-muscular type.

On the fourteenth day, brain (MRI) showed asymmetry of the cerebral hemispheres with hypoplasia of the left cerebral hemisphere, dilatation of the left ventricle, cerebrospinal fluid cavity, and porencephaly. Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. In this patient, MRI showed that porencephaly was located within the brain matter and employed the frontal lobe. The image represented a cavitated outcome of parenchymal damage with cortical dysgenesis occurring during intrauterine life.

Ethylglucuronide (EtG) concentration in the neonate's hair was investigated by liquid chromatography-tandem mass spectrometry which demonstrated prenatal alcohol exposure.

This case shows that FAD should be considered in neonates with rare neurological diseases as porencephaly. In neonates and infants born to a mother who did not report alcohol use, EtG measure in hairs can significantly improve diagnosis of FASD, so allowing to exclude genetic diseases associated with similar clinical findings. Further studies are needed to improve the care and the prevention of complications of effects of in utero alcohol exposure.

Source: https://journals.lww.com/md-journal/subjects/Pediatrics/Fulltext/2020/07310/Porencephaly_in_an_Italian_neonate_with_foetal.58.aspx
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