European Review for Medical and Pharmacological Sciences

2016; 20: 919-922

Long-term survival of full trisomy 13 ina 14 year old male: a case report
G. IMATAKA1, S. HAGISAWA1, A. NITTA1, H. HIRABAYASHI2,H. SUZUMURA1, O. ARISAKA1
1

Department of Pediatrics, Dokkyo Medical University School of Medicine, Dokkyo, Japan
Department of Otorhinolaryngology, Head and Neck Surgery, Dokkyo Medical University Schoolof Medicine, Dokkyo, Japan

2

Abstract. – Long term survival for the casesof trisomy 13 into over a first decade is veryrare. We reported here the case of a 14-year-old
male karyotype with full type of trisomy 13. In
this clinical phenomenon, the case had typicalfacial, finger and limb anomalies for trisomy 13.
Arterial septal defect and patent ductus arteriosus were recognized using ultrasonography after birth. Major cerebral malformation such as
holoprosencephaly or cerebellar hypoplasia
were also not revealed. After 5 months of hisage, artificial ventilation therapy for dyspnea associated with laryngomalacia was required. A
tracheotomy was performed at 6 months of hisage. After 12 years old, intractable partial epilepsy was recognized. For his partial seizures, atreatment with a combination of two anti-epileptic drugs, valproic acid and levetiracetam, wereadvised. Now he is alive for 14-years-old and heis the 4th longest surviving patient with full karyotype of trisomy 13.
Key Words:
Survive, Prognosis, Patau syndrome, Epilepsy,Anomaly.

Introduction
Trisomy 13, also known as Patau syndrome, isa congenital genetic disorder caused by an excessof chromosome 13 firstly defined by Patau et alin 19601. The incidence of this rare syndrome has
been estimated at about 1:5,000 or 1:20,000 live
births1-2 and the third most viable trisomy syndrome after trisomy 21 (Down syndrome) andtrisomy 18 (Edward’s syndrome). The clinicalspectrum of this syndrome exhibits a variety ofanomalies, including central nervous malformation, facial, ocular, limb, finger, lung-cardiac
system, uro-genital involvement and others. The

prognosis of this syndrome is generally lethal. In
addition, the social skill outcome with serious
psychomotor retardation were observed in all of
the long survival cases of trisomy 13 3. There
have been some cases of long survival individuals, who were reported earlier over 5 years old tothe adolescent 4-20. Here we reported and discussed a long-term survival case of a 14-year-old
Japanese male with full karyotype of the trisomy
13.
Case Report
This patient was born cesarean section under
the diagnosis of both intrauterine growth retardation and fetus bradycardia after 35 weeks of gestation, with body weight 1950 g and height of
46.0 cm, head circumference of 29.8 cm andchest circumference of 25.5 cm at private obstetrics and gynecology clinic. He was a first childof a father who was 41 years old and mother who
was 37 years old. There was no history of infectious diseases and drug intake of the mother during pregnancy. Birth asphyxia was noted and hisApgar scores were 3 points at 1 minute and 6
points at 5 minutes. He had several minor anomalies including capillary hemangioma on forehead, low set ears, cryptorchidism, narrow finger
and polydactyly. Cytogenic analysis with Gbanding karioytype, performed using a peripheral
blood specimen, revealed the presence of full
type of trisomy 13. We did not test the chromosomal analysis of fibroblast of the skin and oral
buccal mucosa. He had cardiac murmurs and wasdiagnosed with an arterial septal defect (size ofthe defect was 6.8 mm) as well as patent ductus
arteriosus. Dyspnea due to both vocal cord paralysis with laryngomalacia and heart failure werenoted and he required incubation and artificial
ventilation therapy. At the 6 months of his age,

Corresponding Author: George Imataka , MD; e-mail: geo@dokkyomed.ac.jp919

G. Imataka, S. Hagisawa, A. Nitta, H. Hirabayashi, H. Suzumura, O. Arisaka

after 5 months period of incubation treatment,
had taken tracheotomy operation for difficult torespiratory condition. Respiratory problems
were, therefore, controlled after the tracheotomy.
At the 1 year and 3 months, the first episode ofpartial seizures of the upper limbs occurred andgradually increased. Electroencephalogram
showed multifocal small spikes predominantly inboth frontal areas, so that he was diagnosed aslateralized partial epilepsy. Seizures were wellcontrolled by oral administration of valproic acidat that time. At the 5 years of his age, he revealed
a severe motor and intellectual developmental
delay. Brain magnetic resonance imaging estimated slightly delayed myelination. Moreover,dilations of lateral ventricles, bifurcated septum
pellucid and thin of the corpus callosum were observed in fluid-attenuated inversion recovery sequence (Figure 1). At the age of 7 years, he had
an intestinal hernia. After intestinal enhance examination, he was diagnosed intestinal malrotation and was operated. At the age of 12-year-old,
his epilepsy with partial seizures of limbs became intractable. At the 13-year-old, sleep induced electroencephalogram showed poly spikewith high voltage slow wave complex predominantly in both fronto-temporal areas (Figure 2).
He took add on therapy with levetiracetam andhis seizures were decreased but not ceased.
When he was 14-years-old, his physical stature
and weight were 147 cm and 29 kg, respectively

Figure 1. Brain fluid-attenuated inversion recovery (spinecho: echo time, 105.0 msec; repetition time, 9000 msec)
magnetic resonance imaging of the brain at 5 years old.

920

Figure 2. Sleep induced electroencephalogram record at14 years of his age.

(Figure 3). He enjoyed touching the toy, smilingto hear his parent voice and he could roll over hisbody.

Figure 3. Cross-sectional growth chart curve of the patient(Japanese, boy, age 0-18, 2000 version).

Long-term survival of full trisomy 13 in a 14 year old male: a case report
Table I. Prolonged survival reported cases of trisomy 13.
Study (reference)

Patients age

Gender

Karyotype of trisomy 13

Marden PM et al 1967 (4)Mankinen et al 1976 (5)Cowen JM et al 1979 (6)Reardon PC et al 1981 (7)Reheendran R et al 1981 (8)Reheendran R et al 1981 (8)de Toni T et al 1983 (8)Singh KS 1990 (10)Zoll B et al 1993 (11)
Petit P et al 1994 (12)Delatycki M et al 1997 (13)10 years
5 years
9 years
10 years
11 years
19 years
7 years and 8 months
22 years
11 years
38 years
5 years and 1 month

FemaleFemale
Male
Male
Male
FemaleMale
Male
FemaleMaleFemale

Full
Full
Mosaic (normal/full)Mosaic (full/partial)
Full
Full
Full
Mosaic (normal/full)
Full
Mosaic (Normal/Full)
Mosaic (normal/robertsoniantranslocation)
Mosaic (normal/ full)
Full
Full
Full
Mosaic (full/partial trisomy/partial monosomy/isochromosome)
Full
Full
Mosaic (normal/full)
Full

Delatycki M et al 1997 (13)Tunca Y et al 2001 (14)Iliopoulos D et al 2006 (15)Hsu HF et al 2007 (16)
Fogu G et al 2008 (17)9 years and 5 months
32 years
12 years and 2 months
7 years and 0 month
12 years

MaleFemale
FemaleMaleFemale

Jacob FD et al 2010 (18)Peroos S et al 2012 (19)Imataka et al 2013 (20)
Our case

19 years
8 years and 5months
7 years and 4 months
14 years and 0 month(alive)FemaleFemaleMaleMaleDiscussion
Rasmussen et al21 reported that life prognosis of
median survival time for trisomy 13 is between 7and 10 days. Moreover, between 86% and 91% ofa live-born infant with trisomy 13 do not survive
beyond 1 year of their life. To best of our knowledge, there have only been twelve cases of patients with trisomy13 including four cases of trisomy 13 mosaicism, who survived over the firstdecade (Table I). An individual survived longest
with full trisomy 13 was reported by Tunca et al14,
who was 32-years-old female. Tunca et al14 described that non-lethal congenital anomalies suchas brain, cardiac, uro-genital, etc., and the aggressive medical care may contribute to the long survival of patients affected by trisomy 13. Our casealso had no brain, along with severe cardiovascular anomalies, so was treated with surgical tracheotomy approach. That case was the fourth
longest survival individual with full karyotype oftrisomy 13 in the previous literature.
In addition, as shown in Table I, longest survival case of trisomy 13 mosaicism was a 38year-old female12. Some case reports showed thepossibility of mosaic type trisomy 13 for longer
average life expectancy than patient with full
type of trisomy 1316. But others reported that survival prognosis is not at all related to the trisomy

13 mosaicism, with no reported evidence12. Another unique point observed in our case was thelate onset epilepsy. Jacob et al18 also reported asimilar case which had late-onset seizures in anadolescent with full trisomy 13. When the period
became long, the life survival of the patient withtrisomy 13 in the future, epileptic’s
complication22 may increase.

Conclusions
The cases of trisomy 13 have usually a poor life
prognosis. However, for the cases with no severevital associated organ anomalies, physician should
recognize that long-term survival may be possible.
–––––––––––––––––-––––

Conflict of Interest

The Authors declare that there are no conflicts of interest.

References
1) PATAU K, SMITH DW, THERMAN E, INHORN SL, WAGNERHP. Multiple congenital anomaly caused by extra
chromosome. Lancet 1960; 1: 790-793.
2) JONES KL. Trisomy 13 syndrome. In: Smith’s recognized patterns of human malformation. 6th Ed.
Philadelphia, Elsevier Saunders, 2006; pp. 18-21.

921

G. Imataka, S. Hagisawa, A. Nitta, H. Hirabayashi, H. Suzumura, O. Arisaka
3) WYLLIE JP, WRIGHT MJ, BURN J, HUNTER S. Natural
history of trisomy 13. Arch Dis Child 1994; 71:343-345.
4) MARDEN PM, YUNIS JJ. Trisomy D1 in a 10-year-oldgirl. Normal neutrophils and fetal hemoglobin. Am
J Dis Child 1967; 114: 662-664.
5) MANKINNEN CB, SEARS JW. Trisomy 13 in a female
over 5 years of age. J Med Genet 1976; 13: 157161.
6) COWEN JM, WALKER S, HARRIS F. Trisomy 13 andextended survival. J Med Genet 1973; 16: 155157.
7) REARDON PC, GREENSTEIN RM, HOWARD RO, GIANACOPOLOS EK, BREG WR. Unusual mosaicism of denovo structural abnormalities and ocular anomalies in a male with 13 trisomy syndrome. Am J
Med Genet 1981; 10: 113-118.
8) R EDHEENDRAN R, N EU RL, B ANNERMAN RM. Longsurvival in trisomy-13-syndrome: 21 cases including prolonged survival in two patients 11
and 19 years old. Am J Med Genet 1981; 8:167-172.
9) DE TONI T, DUILLO MT, CAFIERO V, CAVALIERE G, LAZZARONI F OSSATI F. Long-term study (7 year and 8months) of a case of trisomy 13 with long survival. Minerva Pediatr 1983; 35: 951-954. (in Italian)10) SIGH KS. Trisomy 13 (Patau’s syndrome): a rarecases of survival into adulthood. J Ment DeficRes 1990; 34: 91-93.
11) ZOLL B, WOLF J, LENSING-HEBBEN D, PRUGGMEYER M,THORPE B. Trisomy 13 (Patau’s syndrome) with an
11-year survival. Clin Genet 1993; 43: 46-50.
12) PETIT P, FRYNS JP. Normal/trisomy 13 mosaicism ina 38-year-old male. Genet Couns 1994; 5: 311314.
13) DELATYCKI M, GARDNER RJ. Three cases of trisomy
13 mosaicism and a review of the literature. Clin
Genet 1997; 51: 403-407.

92214) TUNCA Y, KADANDALE JS, PIVNICK EK. Long-term survival in Patau syndrome. Clin Dysmorphol 2001;
10: 149-150.
15) ILIOPOULOS D, SEKERLI E, VASSILIOU G, SIDLIROPOULOU
V, TOPALIDIS A, DIMOPOULOU D, VOYIATZIS N. Patau
syndrome with a long survival (146 months): aclinical report and review of literature. Am J MedGenet A 2006; 140: 92-93.
16) HSU HF, HOU JW. Variable expressivity in Patau
syndrome is not all related to trisomy 13 mosaicism. Am J Med Genet A 2007; 143A: 17391748.
17) FOGU G, MASERATI E, CAMBOSU F, MORO MA, PODDIEF, SORO G, BANDIERA P, SERRA G, TUSACCIU G, SANNA
G, MAZZARELLO V, MONTELLA A. Patau syndrome
with long survival in a case of unusual mosaic trisomy 13. Eur J Med Genet 2008; 51: 303-314.
18) JACOB FD, RAMASWAMY V, KOLSKI H. Long-term survival and late anset seizures in an adolescentwith trisomy 13. Can J Neurol Sci 2010; 37: 694696.
19) PEROOS S, FORSYTHE E, PUGH JH, ARTHUR-FARRAJ P,HODES D. Longevity and Patau syndrome: what
determines survival? BMJ Case Rep 2012; 2012.
pii: bcr0620114381.
20) IMATAKA G, YAMANOUCHI H, HIRATO J, EGUCHI M, KOJIMA M, HONMA K, ARISAKA O. Autopsy report of a 7year old patient with the mosaic trisomy 13. Cell
Biochem Biophys 2013; 67: 813-817.
21) RASMUSSEN SA, WONG LY, YANG Q, MAY KM, FRIEDMAN
JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics 2003; 111:777-784.
22) IMATAKA G, TSUBOI Y, KANO Y, OGINO K, TSUCHIOKA T,OHNISHI T, KAJI Y, WAKE K, ICHIKAWA G, SUZUMURA H,ARISAKA O. Treatment with mild brain hypothermia
for cardiopulmonary resuscitation after myoclonicseizures in infant with robertsonian type of trisomy 13. Eur Rev Med Pharmacol Sci 2015; 19:2852-2855.