Variety of neuropsychiatric symptoms in a 4-year old girl sufferingfrom Patau Syndrome with translocation

Abstrakt

Background: Patau Syndrome is a congenital disorder caused by different abnormalities of the 13th chromosome, such as trisomy, robertsonian translocation or mosaicism. It is a rare disorder, affecting some 1/12.000-1/29.000 newborns. Only 10% of cases are caused by robertsonian translocation and no more than 10% of the newborns live up to 1 year. Our patient is already at preschool age and still stays in relatively good somatic condition. That is why she represents an absolutely unique case of this pathology.

Case report: The patient is a 4-year old girl, born in the 38^th week of pregnancy with oligohydramnios. Microcephaly, polydactyly, cleft lift and palate, ureteral stricture and umbilical hernia were diagnosed after birth. Nowadays multiple neurological and psychiatric symptoms are present, overlapping somatic problems. Apart from the intellectual and psychomotor retardation, additional idiopathic epileptic seizures, motor hyperactivity, aggression and auto aggression, sleep disorders and concentration deficits occur. The patients was diagnosed to have autism spectrum.

Conclusions: Despite pharmacotherapy, the patient still presents conduct disorders, which makes her treatment and daily care much more difficult for both parents and medical staff. Due to the congenital etiology of disorder, prognosis is rather pessimistic.