ESPE Abstracts

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.

Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via planned cesarean section at 38 gestational weeks, with birthweight 3000 g, body length 50 cm and head circumference 34 cm. APGAR on the 1st minute was 8, increasing to 9 on the 5th minute. In the early neonatal period, the child was raised on a thermal bed, additionally plasma transfusion treatment, phototherapy, intravenous infusions, and antibiotic therapy were applied. Stigmas for Down syndrome have been identified at birth. From the karyotype: two chromosomal pathologies - 48, XXY, + 21. Cytogenetic analysis was carried out with preparations, made from peripheral lymphocyte cultures and was performed by GTG-banding. The final analysis was conducted based on the International Cytogenetic Nomenclature. The following were diagnosed by observation: primary hypothyroidism from 1 y 6 m, epilepsy between 6 m -4 y, severely impaired dental health. Due to muscular hypotension and retardation in psychomotor development the patient is directed to a consultation and rehabilitation center from 10 m. a., specializing in early diagnosis, rehabilitation, and prevention of child abandonment in an institution. The growth of the child coincides with that of the general population SDS +0.09. Yearly checks were performed in the following areas: full blood profile, blood glucose levels, ophthalmology, cardiology, celiac disease, deafness status, genetic counselling. Good adaptation in a mass kindergarten from 4 years of age, where he worked additionally with a speech therapist and a resource teacher. He continues to use social services. Psychological examination at 4 y 2 m observes: progress in patient’s independence and fine motor skills, the appearance of anxiety attacks, moderate mental retardation, more apparent in the social and emotional areas, alongside expressive speech.

Conclusions: Periodic consultation with a team of geneticists as to facilitate the personalized clinical treatment is advisable. Early and accurate diagnosis, the cross-specialist communication, trust both between teams and family are fundamental principles for achieving personalized care and social independence to the maximum extent possible for the patient.