Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review.

A genetic disorder caused by the microdeletion of the long arm of 22th chromosome is the most common microdeletion syndrome in humans. It is estimated that 22q11.2 deletion affects one in every 1,000 foetales and one in 4,000 live births. During the neonatal period, the 22q11.2 deletion syndrome manifests itself in children in the form of dysmorphic facial features, and the results of ultrasound imaging tests reveal thymus hypoplasia, urinary tract disorders or brain impairments. The picture is completed by congenital heart diseases which indicate a high probability of the syndrome. This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.

Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I).

BACKGROUND: Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites. Haemophilia is a rare cause of haemorrhages in the neonatal period, and in the female population it is even seen as an extremely rare disorder. Its aetiology in girls is diverse: inheriting defective genes from their parents, skewed X inactivation or a single X chromosome. CASE PRESENTATION: The article presents a case of a preterm girl born in the 28th week of pregnancy, who was diagnosed with severe haemophilia A stemming from the absence of the X chromosome. The girl's father is healthy, but her mother's brother suffers from haemophilia. On the second day of the child's life, a prolonged bleeding from the injection site was observed. A coagulation profile revealed prolonged APTT which pointed to haemophilia A diagnosis. Moreover, a marked clinical dysmorphy, female sex and a negative family history on the father's side led the treating team to extend the diagnostic procedures to encompass karyotype evaluation. The girl was diagnosed with Turner syndrome. No bleeding to the central nervous system was observed during her hospital stay. CONCLUSIONS: Preterm children belong to the risk group of bleeding into the central nervous system or haemorrhages in the course of sepsis. Rare causes of such bleedings should also be borne in mind, including haemophilia. The initial symptoms of haemophilia in preterm children occur in the first days of their lives, which is connected with a number of invasive procedures required in that period. Genetic conditions may coexist with one another. Arriving at one diagnosis does not mean one should abandon further diagnostic procedures in cases where additional atypical symptoms are present which do not match the clinical image of a primary disease.

Successful treatment of neonatal atrial flutter by synchronized cardioversion: case report and literature review.

BACKGROUND: Atrial flutter (AFL) is a supraventricular tachyarrhythmia. In the ECG tracing, it is marked by a fast, irregular atrial activity of 280-500 beats per minute. AFL is known to be a rare and also life-threatening rhythm disorder both at the fetus and neonatal period. AFL may result in circulatory failure, and in a more severe form, it may lead to a non-immune fetal hydrops. However, with early prenatal diagnosis and proper treatment, the majority of AFL cases show a good prognosis. CASE PRESENTATION: We report a case of a neonate who was born at 34 weeks of gestational age by C-section because of risk for birth asphyxia, based on abnormal CTG tracing, which had no characteristic rhythms for fetal decelerations. A third day his heart rate was 220/bpm. ECG has shown supraventricular tachycardia with narrow QRS. The administration of adenosine resulted in the obvious appearance of "sawtooth wave" typical for AFL. Arrhythmia was resistant to the therapy of amiodaron. Then cardioversion was performed and the rhythm converted to normal. CONCLUSIONS: As neonatal AFL might be resistant to conventional pharmacotherapy, one needs to remember about the possibility of electrical cardioversion in the pediatric cardiology referral center. Moreover, CTG monitoring is of limited use because it does not record fetal heart rhythms > 200/min and echocardiography at the reference center is practically the only method to monitor the condition of the fetus with abnormal rapid heart rhythm.