Dokkyo Journal of Medical Sciences
39（1）：81 〜 84，201281

Case Report

Long survival case of trisomy 13 mosaicism in a
7-year-old maleGeorge Imataka, Tatsuo Tsuboi, Keiko Tsukada, Yoshiyuki Watabe
Susumu Hagisawa, Yoko Ohwada, Osamu Arisaka
Department of Pediatrics, Dokkyo Medical University School of Medicine

SUMMARY
Trisomy 13 is a complication of various congenital abnormalities of the heart, brain, etc. Regarding the vital prognosis, many die within a year from birth. We herein report on the case of a 7-year 1-month-old boywith mosaicism trisomy 13 with the two considerations mentioned below as the cause for long-term survival in this case. The first is that there were no serious associated abnormalities to the heart, brain, or otherorgans, and the second is that a tracheotomy was carried out on a repeated respiratory infection with respiratory failure. Long-term in-home care was possible for the child and he was observed playing with toys bytouching them. Trisomy 13 has a poor vital prognosis, so some argue that active treatment should be restrained. However, for cases with no severe associated abnormalities, long-term survival may be possible
with active treatment.
Key Words：trisomy 13, mosaic, survival

INTRODUCTION

birth. Moreover, the social prognosis is also very poor,
with serious psychomotor retardation observed in all

Trisomy 1 3 syndrome is a congenital anomaly syn-survival cases 1〜5）. Therefore, some institutes insidedrome caused by an excess of chromosome 1 3 thatand outside of Japan consider the present syndrome

was first reported by Patau et al. in 1 9 6 0 , and may

applicable to prenatal diagnosis. Moreover, a tendency

also be referred to as Patau syndrome. Regarding theis observed for active treatment not to be carried out 6）

symptoms and course of the present syndrome, death. On the other hand, though dispersive, there are re-at an early phase following birth cannot be avoided

ports of long-term survival along with the develop-

due to serious congenital heart disease, respiratory ill-ment of a medical environment in recent years 7 , 8）. In

ness, and brain malformation. According to reports, ap-

this paper, we report on the clinical course of mosa-proximately 5 0％ die within a month following birthicism trisomy 13 in a 7-year-old boy.

and approximately 9 0％ die within a year following

CASE REPORTThe case pertains to a 7 -year one-month-old boy.

Received November 5, 2011；accepted December 26, 2011
Reprint requests to：George Imataka MD, PhD
Department of Pediatrics, Dokkyo Medical
University School of Medicine, 8 8 0 Mibu,
Shimotsuga, Tochigi 321-0293, JapanHe had no special family history. He was child of a father who was 47 years old and a mother who was 34years old. There was no history of drug intake or infectious diseases to the mother during pregnancy. Thechild was born by spontaneous cephalic delivery on

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George ImatakaDJMS

the 3 9 th week；he weighed 3 , 3 6 6 g, had a height of
48.5 cm, a head circumference of 33.0 cm, and a chest
circumference of 31.5 cm. His apgar score was 4 points
at 1 minute, and 8 points at 5 minutes. The child suffered from a complication of meconium aspiration folFig. 1 Chromosome analysis
Excess of No. 13 was observed upon G-band
chromosome banding.

lowing delivery and management of artificial respiration was carried out in a neonatal intensive care unit.
Hearing of the systolic phase and systolic phase anddiastolic murmur was carried out regarding heartsounds, and an interatrial septal defect（ defect of os-weeks but tubal feeding was carried out due to a suck-tium secundum, or fossa ovalis）, a ventricular septum

ling disorder and aspiration pneumonia. Partial convul-defect（ IV type：muscular septal defect）, as well assion of the extremities repeatedly occurred for 6

patent truncal arteriosus were observed upon cardiac

months. The oral administration of clonazepam wasultrasound. The abdomen was bloated and a complica-commenced with an observation of multifocal spiketion of malrotation was observed upon contrast X-ray

upon electroencephalogram. The parents were in-examination. The child was observed with the follow-

structed on the manipulation of tubal feeding and careing various congenital anomalies. Regarding the skull,of the child, the child left the NICU following 1 1

the forehead was slanted and deformed. A partial de-months from birth at a weight of 4,849 g and a heightfect of the scalp was observed in the parietal region ofof 60.2 cm, and in-home care was carried out following

the forehead. A cephalhematoma was observed on top

this.

of the head. Erythema was observed in the forehead

After leaving the NICU, in-home tubal feeding wasand the posterior region of the neck. Both eyes had

continued with the support of regional visiting hygien-

microphthalmia and the right eyelid was observed as

ists. The interatrial septal defect was found to havefailing to close in addition to having blepharoptosis. He

closed upon ultrasonic waves at 2 years from birth.

had a saddle nose. Both auricles were large and ob-

Medical treatment by an artificial respirator was re-served to be in a lower position. There was no cleft lip

quired with a recurrence of lower respiratory tract in-

but a V-shaped cleft palate was observed in the soft

fection. Tracheotomy was carried out after 2 months

palate. The anteroposterior diameter of the trunk andof artificial respiration management at 3 years old andchest was largely deformed, with an umbilical hernia

respiratory infection declined. In-home oxygen thera-observed. Bilateral inguinal hernia, hydrocele, cryp-py was introduced. Urinary tract infection that accom-torchidism, and a concealed penis were observed inpanied the concealed penis recurred at 5 years old,the external genitalia. There was an abduction limita-and vulvaplasty was carried out. Regarding motor de-tion in flexion at the hip joint, his nails were arched,velopment at 6 years old, the child was observed withand his fingers were tapered and overlapped. His heels

an ability to turn over in bed, repeatedly touched toys

and soles were cradle ─ like. Mild spasticity was ob-that make noise, and smiled at his mother.

served in the limbs.

Epileptic seizures accompanying partial convulsions

Trisomy 1 3 was suspected from congenital defects,of the upper left limb were aggravated from 6 years

G-band chromosome banding（Fig. 1）was carried out

old. He was observed as having a repeated spike in theupon approval of the parent, and the child was diag-

central parietal area of right brain waves and carbam-

nosed with trisomy 13. A FISH method（FISH：fluo-azepine was increased with a diagnosis of locally relat-rescence in situ hybridization）test using peripheral

ed epilepsy. Regarding the extremities, lower limb-blood determined that it was a mosaicism trisomy 13

dominant spastic paralysis was observed and deep

with 73.2％ normal karyotype and 26.8％ trisomy 13.

tendon reflex generally accelerated. Regarding the cra-

We did not test the chromosome analysis by buccal

nial nervous system, the activity of facial muscles formucosa and skin fibroblast.

expressions declined and disappearance of the eyelash

He was withdrawn from artificial respiration after 2

reflex as well as attenuation of the vomiting reflex

39（1）（2012）Long survival case of trisomy 13 mosaicism

83

were observed. Delayed contraction of the pupil re-trisomy 1 3 syndrome based on the present case. It

sponse was observed regarding bilateral light reflexes.

was considered that if there is no serious cardiac insuf-

Atrophic changes in the bilateral optic nerves wereficiency, brain malformation, or status epilepticus at anobserved upon funduscopy. There was no brain mal-early postnatal period, the vital prognosis may improveformation upon brain MRI, with a relatively good my-by carrying out active management including surgicalelinization. The left and right lateral ventricles expand-treatment with the approval of the parents. Kaneko eted, hypoplasia of the transparent septum wasal reported an operation on the congenital cardiac

observed. He entered a special elementary school for

anomalies with 9 cases of trisomy 1 3 from 2 0 0 0 to

handicapped children at 7 years old.

2005. This article shows that improvement of predomi-

DISCUSSIONnance for the duration of survival period of trisomy 13
which caught intensive cardiac management 9）. There

We herein report on the course and various test re-are no multi-person comparative reports that include

sults regarding a mosaicism trisomy 1 3 case withdifferences in medical environments regarding wheth-long-term survival. Among trisomy 13 cases, in which

er mosaicism trisomy 13 has long-term survival com-long-term survival is rare, we will discuss why thepared to normal complete trisomy 13 7,10）. Therefore, apresent case experienced long-term survival.

possibility that the present case coincidentally had

First, the therapeutic strategy towards trisomy 1 38）

long-term survival cannot be ruled out. Similar reportsof our hospital is mentioned . Our institute does not

may additionally increase in the future due to develop-

commit to consistently carrying out active treatment

ment of the medical environment in recent years 8）.

including surgical treatment and/or resuscitation sim-Additional reports in the future are awaited regarding

ply due to the disease name of trisomy 1 3 alone. Wewhether or not the findings of the present case are

persistently carry out therapeutic strategies in accor-findings that are peculiar to mosaicism trisomy 13 syn-dance with the severity and/or requests of familydrome.

members. The apgar score at birth of the child in

In the near future, it is predicted that the day willquestion did not correspond to severe asphyxia. In ad-

come in which the vital prognosis or duration of life ofdition, a prenatal diagnosis was not carried out. There-trisomy 1 3 syndrome is further improved. Therefore,fore, initially, the same resuscitation as for a normal

it is advisable for health care providers to ascertain

child was carried out without clinically diagnosing as

the prognosis of each case regarding the possibility oftrisomy 13 from the multiple abnormalities alone. Con-

how much a child with a disability will socially growsultation was repeated with the patient following diag-and provide the maximum QOL. The most importantnosis for mosaicism trisomy 13 at a later date, and thepoint in the medical care of a child with a chromosome

concurrence of respiratory complications was signifi-

abnormality is to absolutely avoid unnecessary life-

cantly reduced by carrying out artificial respiration

prolonging treatment. That is to say, what is importantmanagement and tracheotomy. Moreover, urinary

is“how to live”and not“how long to live.”Kosho ex-

tract infections were also reduced by a combination ofpresses the problem of the genetic ethics of the childurological surgery. The child was not observed withof the congenital chromosomal abnormalities such asserious heart failure, brain malformation such as holo-trisomy 18 with“best interests of the babies”11）. It isprosencephaly, or status epilepticus, which are ob-

important to develop medical care for disabled chil-served in trisomy 1 3 with early death. Furthermore,dren with this viewpoint as the core, with medical pro-due to the request of the parents for in-home care, hefessionals and family members supporting each other.

was able to grow up with abundant love from his family by tubal feeing while repeatedly entering and leav-Acknowledgement

After informed consent of par-ing the hospital. It was discussed that the long-term

ents, this report is published. This report was partiallysurvival of the child was possible due to the factors

supported by grant：the Investigator-Investigated Re-

mentioned above.

search Grant from Dokkyo Medical University（ No.

We would like to consider a therapeutic strategy for2009）.

George Imataka

84

REFERENCES
1）Patau K, SmithDW, Therman E, et al：Multiple congenital anomaly caused by extra chromosome. Lancet
1：790-793, 1960.

DJMS
neonate with poor prognosis. Early Hum Dev 2 9：403-406, 1992.

7）Petit P, Fryns JP：Normal/trisomy 13 mosaicism in a
38-year-old male. Genet Couns 5：311-314, 1994.
8）Tsukada K, Imataka G, Suzumura H, et al：Better2）Carey JC：Trisomy 18 and 13 syndromes. In：Allan-prognosis in newborns with trisomy 13 who received

son J, Cassidy S, editors. Management of Genetic Syn-intensive treatments：a retrospective study on 16 pa-dromes. 2 ed Ed. Hoboken, NJ：John Wiley & Sons,tients. Cell Biophysics Biochemistry.（in press）.

Inc. p555-568, 2005.

9）Kaneko Y, Kobayashi J, Yamamoto Y, et al：Intensive3）Jones KL：Trisomy 13 syndrome. In：Smith’s Recog-cardiac management in patients with trisomy 1 3 ornized Patterns of Human malformation. 6th Ed. Phila-trisomy 18. Am J Med Genet A 146A：1372-1380,

delphia, Elsevier Saunders. p18-21, 2006.

2008.

4）Goldstein H, Nielsen KG：Rates and survival of indi-

10）Hsu HF, Hou JW：Variable expressivity in Patau syn-viduals with trisomy 18 and 13. Clin Genet 34：366-

drome is not all related to trisomy 13 mosaicism. Am372, 1988.

J Med Genet A 143A：1739-1748, 2007.

5）Wyllie JP, Wright MJ, Burn J et al：Natural historyof trisomy 13. Arch Dis Child 71：343-345, 1994.
6）Nishida H, Sakamoto S：Ethical problems in neonatal
intensive care unit-medical decision making on the11）Kosho T：Invited comment：Care of children withtrisomy 18 in Japan. Am J Med Genet A 146A：13691371, 2008.