[Coarctation of the aorta with aortic arch hypoplasia in newborn with partial trisomy 11q associated to 4q interstitial deletion]. / Coartazione aortica con ipoplasia dell'arco in una neonata con trisomia parziale 11q associata a delezione interstiziale 4q.

This article reports the case of newborn with multiple dimorphisms (microcephaly, hypertelorism, wide and flat nasal bridge, small nose, long philtrum, microretrognathia, malformed and low-set ears, short neck, redundant nuchal skin, genital anomalies), admitted in the hospital after two days from delivery for torpor, poor food and cyanosis. Babies were affected, at color-Doppler echocardiography, by coarctation of the aorta (CoA) with aortic arch hypoplasia. CoA is often associated to genetic and environmental factors that interact frequently. In this study the anamnestic absence of teratogen noxae and the presence of facial and genital anomalies suggest a genetic study to provide appropriate genetic information to parents. G-banding chromosomic analysis revealed a 46, XX der 4t(4;11) karyotype with partial 11q trisomy confirmed with FISH chromosome painting 4;11 and with FISH subtelomere specific 4(p/q)11(p/q). These techniques showed that derivative chromosome 4 was constituted by chromosome 4 with partial deletion in the q35 region and by 11q21 translocation. This rare anomaly is often inherited by an unbalanced segregation of a balanced translocation, present in one of the two parents. In the present study, the father carried a t(4q;11q) balanced translocation. A CGH-array analysis was executed to the child for the breakpoints definition. As 11q trisomy cases reported in literature are still few, this case can contribute to improve our knowledge on the genotype-phenotype correlation in this rare genetic anomaly.

A case of isolated pachygyria with unusual clinical onset in the neonatal period.

Pachygyria is a malformation of the cerebral cortex characterized by an insufficient development of the gyri and cerebral sulci within the anomalies of neuronal migration. Clinically, can cause seizures, mental retardation and motor deficits. We report a rare clinical case of pachygyria in a newborn with persistent hypotonia and sub-clinical seizures in which early diagnosis was possible thanks to cranial magnetic resonance imaging.

[Accidental ethyl alcohol intoxication in a 30-day-old infant. Clinical findings and neurological follow-up]. / Intossicazione accidentale da alcol etilico in un lattante di 30 giorni. Quadro clinico e follow-up neurologico.

Fetus damages due to alcohol abuse in pregnancy, fetal alcohol syndrome (FAS), are widely documented in the literature, whereas short and long term clinical signs of acute alcohol intoxication in newborn babies are poorly described. In our study we describe the case of a 30-day-old newborn baby erroneously fed with 70 mL of white wine in place of the water for milk dilution. The baby clinical features were torpor, tremors, slight fever without metabolic anomalies typical of classic acute alcohol intoxication such as hypoglycemia, hypothermia, metabolic acidosis and coma. Periodical follow-up a 2, 3, 6 and 12 months were performed in order to evaluate neuromotor development using Bayley Scales of Infant Development II, for children between 1 and 42 months old. The results showed normal psychomotor development in our patient.

[Normal urinary levels of telopeptide aminoterminal (NTx) of type I collagen in healthy term newborns and infants in the first month of life]. / Livelli normali urinari di telopeptide amino terminale (NTx) del collagene di tipo I in neonati a termine e lattanti sani nei primi tre mesi di vita.

The Authors have studied urinary aminoterminal telopeptide of type I collagen (NTx), a bone catabolism marker of recent determination, by an enzyme-linked immunoassorbent assay (OSTEOMARK) in 80 urine samples of term healthy infants in the first 3 months of life. Highly significant variations have been compared in the whole period studied (P = 0.000). Levels of NTx increase significantly from 1 to 7 days of life, reaching a plateau that is kept until 45th day and then significantly decrease until 90th day, when, however, they result higher than the values reported in literature concerning older ages. The Authors conclude that even this bone catabolism marker is influenced, in the first week of life, by the particular phenomenology linked to the neonatal adaptation, and that, subsequently, shows a trend strictly linked to the bone turnover modifications throughout the faster stage of the growth.

Idiopathic multicentric osteolysis: family report and review of the literature.

A mother and son affected by idiopathic multicentric osteolysis are reported. This condition usually manifests in early childhood and is characterized by progressive destruction of the carpal and tarsal bones, with or without renal anomalies. Unusual facies might be the clinical features of the syndrome. Review of the literature shows that osteolysis can occur in isolation or may be associated with renal and/or facial anomalies.