Paediatr Croat.

2016;60:27-30
PRIKAZ BOLESNIKA / CASE REPORT
www.paedcro.com
http://dx.doi.org/10.13112/PC.2016.5

Patau syndrome
Vida Čulić1, Branka Polić2, Silvana Mišković3, Slavica Dragišić Ivulić4, Vanda Zitko5,
Tatijana Sipalo1, Jasminka Pavelić6

Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with
increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. About
28% of children born with trisomy 13 die during the first week of life. The median life expectancy is about 2.5 days. We present a
12-year-old girl, the longest living patient with Patau syndrome in Croatia, followed-up from the birth until the age of 12 years. The
conventional nonintervention approach has been revised and we suggest changing the traditional view of the condition.

Keywords: Patau syndrome; life expectancy; chromosomal anomalies

INTRODUCTION is increased for free trisomy 13 (1, 2). Twenty-eight percent

of newborns with Patau syndrome die within the first week
Patau syndrome (trisomy 13) is one of the most common of life, 44% in the first month, and 86% by one year of age.
chromosomal anomalies clinically characterized by the pre- The median survival age is 2.5 days, and only a small num-
sence of numerous malformations with a limited survival ber of cases experience puberty age. Most infants with Pa-
rate for most cases. It is the third most frequent chromo- tau syndrome have a high mortality: 69% from cardiopul-
somal trisomy with estimated incidence of about 1/8000- monary failure, 13% from congenital heart defects, and 4%
12,000 births. Spontaneous abortions, after 12 weeks of ges- from pneumonia (1, 2). Newborns with Patau syndrome
tation, are 100 times more often caused by trisomy 13 than present at birth with low birth weight and often with intra-
by any other condition. Between 12 weeks of gestation and uterine growth retardation, one umbilical artery, prolonged
term, 49% (95% CI: 29-73%) of pregnancies diagnosed with persistence of fetal hemoglobin, doubled organs, micro-
trisomy 13 are estimated to end with miscarriage or still- cephaly, microphthalmia, arrhinencephalia, bilateral cleft lip
birth (1, 2). and palate, postaxial hexadactyly, and a wide spectrum of
anomalies of the heart and great vessels. About 4/5 of cases
Compared to the general neonatal mortality rate, the esti- reveal renal anomalies and a variety of muscular and skele-
mated mortality rate for trisomy 13 is about 50 times higher tal anomalies. Most of these patients are blind and deaf,
(1). Trisomy 13 is cytogenetically classified as a full trisomy with epilepsy and severe developmental delays (1).
(47,XY,+13) due to the nondisjunction at meiosis I or II, or at
mitosis (mosaicism) and partial trisomy due to transloca- 1
Departement of Pediatric Hematology, Oncology, Immunology
tions. Patau syndrome due to translocations can be inherit- and Medical Genetics, Split University Hospital Center
2
Department of Intensive Care and Therapy, Clinical Department
ed if one of the parents carries a balanced rearrangement of of Pediatrics, Split University Hospital Center 3 University of Split,
genetic material between chromosome 13 and another School of Medicine
4
chromosome. Robertsonian translocations may involve two Department of Pulmonology and Allergology, Split University Hospital
Center
chromosome 13 /46,XX,t(13;13)/, or chromosome 13 and 5
Department of Pediatric Gastroenterology and Hepatology, Clinical
another acrocentric (14,15,21,22). Robertsonian transloca- Department of Pediatrics, Split University Hospital Center, Split
6
tion 13:14 is the most common translocation of this type in Laboratory of Molecular Oncology, Ruđer Bošković Institute, Zagreb,
Croatia
the population. Robertsonian translocation 13;14 in about
Correspondence to:
60% of cases occurs de novo, in 25% is maternally and in Prof. Vida Čulić, MD, PhD; Clinical Department of Pediatrics; Split University
15% paternally inherited. In most cases, translocation 13;13 Hospital Center; Spinčićeva 1; HR-21000 Split, Croatia;
arises de novo because one of the parents carries a 100% risk e-mail: vida.culic@gmail.com
of Patau syndrome in the offspring. The mean maternal age Primljeno/Received: 30. 6. 2016., Prihvaćeno/Accepted: 11. 3. 2016.

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ČULIĆ V. ET AL. PATAU SYNDROME. PAEDIATR CROAT. 2016;60:27-30

CASE REPORT Today, she is 12-years old; she does not walk or speak, and is
prone to recurrent bronchopneumonia because of which is
We present a 12-year-old girl, the longest living patient with often hospitalized (Figure 1). During her long hospitaliza-
Patau syndrome in Croatia. She is the second child of tion, her mother was educated for home care, which is pri-
healthy young parents who had a child with Edwards syn- marily related to changing and hygiene of the cannula set,
drome (full trisomy 18 with karyotype: 47,XY+18) from pre- gauge feeding, aspiration of secretions, inhalation tech-
vious pregnancy. The child died a few days after birth. The nique and use of oxygen through a mask. In order to achieve
parents have normal karyotypes; after genetic counseling, a satisfactory clinical condition of the girl, she was placed on
they refused prenatal diagnosis for the second pregnancy. home care with her family and since then has been in home
Our patient with Patau syndrome has a full trisomy, a tan- conditions. After some time, she developed symptomatic
dem translocation 13;13 de novo 46,XX,der(13;13)(p11.2; epilepsy. In the process of genetic counseling, the parents
p11.2). The diagnosis was confirmed by fluorescent in situ were informed on the possibility of prenatal diagnosis or
hybridization (FISH) from peripheral blood and skin culture: preimplantation diagnosis, however, they were not ready
ish psu idic(13;13)(13pter13cen13p11.2::13p11.213p for new pregnancy.
su cen13qter)(D13Z1++). FISH was performed on meta- All procedures were approved by the local Ethics Commit-
phase chromosomes using alphoid 13 and 21 specific cen- tee and carried out with full understanding and written
tromeric DNA probe (D13Z1/D21Z1, Kreatech). Hybridiza- consent of the parents.
tion showed one centromeric signal on normal chromo-
some 13, and two signals on der(13;13) chromosome. The
DISCUSSION
Robertsonian translocation (13;13) was dicentric.
Upon delivery, the newborn manifested right-sided cleft lip Cases of children diagnosed with Patau syndrome or Ed-
and palate, coloboma of iris on both eyes, heart defect (atri- wards syndrome who lived longer than the average life ex-
al septal defect II), and right double urinary channels. She pectancy for these conditions are rarely described in the
also developed acute respiratory failure, was intubated and literature (2-4). Considering the real life experience and data
mechanically ventilated in the Pediatric Intensive Care Unit from medical literature, the question is how much effort,
(PICU), and tracheotomy was done. She was successfully knowledge and material resources should be invested in
weaned from the respirator some months later and surgical the treatment of children with severe chromosomal abnor-
correction of the cleft lip and palate was performed. At the malities. There is a clear ethical rule that a doctor has a pri-
mary obligation of personal care for each patient (5).
age of 3 years, decannulation was finally performed.
Cases similar to our patient have been described in the lit-
erature from 1993, 2004, 2006, 2010, 2011 and 2014 (6-11).
The intensity of delivery room care for very low birth weight
infants with trisomy 13 or trisomy 18 varied depending on
the timing of trisomy diagnosis. For the majority of infants,
the plan for subsequent care was to withdraw care or to
provide comfort care only. This practice influenced the tim-
ing of death and rates of survival to discharge (7, 8). The psy-
chological support offered to the mother was, and has
been, of great help to the development and maintenance
of the mother-child relationship. This close relationship,
added to the tireless maternal effort to provide the best
quality of life, seems to have contributed positively to the
long survival of the child (11). These reports support better
prognosis of trisomies through treatment at PICU based on
improved survival period. Educating parents about their
child’s diagnosis and developmental outcomes is impor-
tant. Medical team has to make it clear to parents what can
be provided, intensive or comfort management, and get
informed consent from them (12).
In our case, medical decision on the intervention was sup-
FIGURE 1. A girl suffering from Patau syndrome at the age of 7 years. ported by the choice of the parents who were eager for

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PAEDIATR CROAT. 2016;60:27-30 ČULIĆ V. ET AL. PATAU SYNDROME.

their child to survive although being faced with her severe sljednje 3 godine; nemaju drugih veza ili aktivnosti koje bi mogle utjecati
na objavljeni rad./All authors have completed the Unified Competing Interest
disability. Based on the experience, we think that each pa-
form at www.icmje.org/coi_disclosure.pdf (available on request from the cor-
tient is an individual case and the final decision should be responding author) and declare: no support from any organization for the sub-
made respecting the family’s choice. Considering that par- mitted work; no financial relationships with any organizations that might have
ents usually hope to spend some weeks, months, or maybe an interest in the submitted work in the previous 3 years; no other relationships
or activities that could appear to have influenced the submitted work.
a few years with their child, we generally advocate intensive
treatment for children with trisomies regardless of the pos-
sible complications of treatment, their disability and shorter REFERENCES
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ČULIĆ V. ET AL. PATAU SYNDROME. PAEDIATR CROAT. 2016;60:27-30

SAŽETAK

Patau sindrom
V. Čulić, B. Polić, S. Mišković, S. Dragišić Ivulić, V. Zitko, T. Sipalo, J. Pavelić

Genetski sindromi uzrokovani kromosomnim aberacijama uključuju prepoznatljivi obrazac višestrukih prirođenih anomalija s pove-
ćanom smrtnošću novorođenčadi i dojenčadi, što skrb za njih čini teškom za obitelj, liječnike primarne zdravstvene skrbi i specijaliste.
Oko 28% djece rođene s trisomijom 13 umire tijekom prvog tjedna života. Srednje očekivano trajanje života je oko 2,5 dana. Prikazu-
jemo 12-godišnju djevojčicu, najduže živuću bolesnicu s Patauovim sindromom u Hrvatskoj, koju pratimo od rođenja do njezine
sadašnje dobi od 12 godina. Konvencionalni pristup zasnovan na izostanku intervencije doživio je reviziju, a mi predlažemo promje-
nu tradicionalnog pogleda na ovo stanje.

Ključne riječi: Patauov sindrom; očekivano trajanje života; kromosomne anomalije

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