art. 1.4325
European Review for Medical and Pharmacological Sciences

2015; 19: 2852-2855

Treatment with mild brain hypothermia
for cardiopulmonary resuscitation after
myoclonic seizures in infant withrobertsonian type of trisomy 13
G. IMATAKA1, Y. TSUBOI1, Y. KANO1, K. OGINO2, T. TSUCHIOKA2,G. ICHIKAWA1, H. SUZUMURA1, O. ARISAKA1
12Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi, JapanFirst Department of Surgery, Dokkyo Medical University School of Medicine, Tochigi, JapanAbstract. – Congenital chromosomal abnormality with trisomy 13 is known to be associatedwith poor life prognosis and lethal. Therefore,
physician advice the patients be kept in intensive treatment with resuscitation and state of
the art intensive care when sudden change in
the general condition with this trisomy is observed. We report herein, the treatment with mild
brain hypothermia therapy for cardiopulmonary
resuscitation after myoclonic seizures in infant
with Robertsonian type of trisomy 13 in intensive care unit. Our study indicated that brain hypothermia therapy and steroid pulse therapy on
an infant who was believed to have post-resuscitation hypoxic encephalopathy was highly effective as the patient’s general condition recovered to the original state after four months.
Key Words:
Patau syndrome, Epilepsy, Steroid pulse, Intensive careunit, Spectral karyotyping.

Introduction
Intensive treatment for newborns up to infantile period with trisomy 13 is discussed as controversial because their outcome is lethal1. In addition, about half of infants with trisomy 13 willsurvive longer than a week and only 5 to 10% of
infants will live past one year2. Therefore, non-intervention approach in the management of trisomy 13 is traditionally reflected in the past literature3,4. On the other hand, long survival cases oftrisomy 13 were recently reported and is argued
to follow more conventional medical treatment
for trisomy 131-6. We present a case of Robertsonian type of trisomy 13 who recovered after thetherapy with mild brain hypothermia in intensive
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care unit of our hospital due to cardiopulmonary
resuscitation following epileptic seizures.
Case report
A 7-month old girl was referred to our emergency room under the condition with cardiopulmonary resuscitation. Her face had variety of minor anomalies such as microophthalmos, microcephaly, sloped shape and capillary hemangioma
on forehead. No major heart anomaly was recognized. Her cerebellum and corpus callosum had
hypoplastic formation. Both her ribs were 10 innumber. On review of her clinical recording at
our hospital, she was diagnosed with Robertsonian type of trisomy 13 with the karyotype of 46,
XX, +13, der (13; 14) (q10; 10) using spectral
karyotyping method (SKY) analysis7-9 (Figure 1).
From her chart, it was assessed that she was bornvaginally after 37 weeks and 5 days of gestation
weighing 2.17 kg. Birth asphyxia was not noted.
She was transported to our hospital because ofpoor sucking and minor anomalies. After congenital chromosomal anomaly syndrome was
doubted and chromosome analysis, she was diagnosed to have Robertsonian type of trisomy 13 inher neonatal period. Her developmental milestone was delayed and neck stabilized at fivemonths. She could not turn over for her age.
On the day the infant was hospitalized, she
had multiple myoclonic seizures. When she wasfed with milk, she stopped breathing suddenly as
she had myoclonic seizure. Her mother shook her
and she resumed breathing after less than aminute. However, after she had another myoclonic seizure, she was observed with apnea,
and the emergency and rescue was called for. Her
father gave her artificial respiration and cardiac

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

Brain hypothermic therapy for infant with Robertsonian type of trisomy 13

Figure 1. Chromosomal analysis using spectral karyotyping (dual colors) method in the patient of the present study. The
karyotype of high resolution band analysis revealed 46, XX, +13, der (13; 14) (q10; q10). Sky method revealed the aberration
more clearly (represented by an arrow).

massage following the rescue crew’s direction.
Upon their arrival after 10 minutes, she was incardiopulmonary arrest. With the rescue crew
giving resuscitation, she arrived at ER after 30
minutes. Her heartbeats were verified, but as she
was not breathing, endotracheal intubation andartificial ventilation were given. Her consciousness level was E1V1M1 that is score 3 on Glasgow coma score. Her height was recorded as 57
cm and weight 6.07 kg and body temperature
33.5ºC. The pupil diameters in both eyes were 3mm, and light reflex was observed. The venousblood gas level was: pH 6.75, PCO2 74.1, PO2
83.3, HCO3- 9.8, BE-25.9, and peripheral blood
test results were as follows; WBC 16800×109/l,Hb 10.2 g/dl, Glu 385 mg/dl, AST 243 U/l, ALT
98 U/l, LDH 401 U/l, Na 139 mEq/l, CK 293

AU/l, CRP 0.01 mg/dl. We diagnosed acute encephalopathy after resuscitation upon her cardiopulmonary arrest. After we obtained the informed consent from her parents, we conducted
brain hypothermia therapy that keeps the bodytemperature at 34oC for 48 hours combined withsteroid pulse therapy on her. After brain hypothermia therapy was conducted, we evaluatedelectroencephalogram serially. The record of theelectroencephalogram on the first day of brain
hypothermia therapy (Figure 2A) indicated thelow-amplitude of the background activity. Fivedays after the cardiopulmonary arrest and twodays after the brain hypothermia, her eyes
opened, and she started responding to the pain
stimulations in the arms and legs. The brain wave
(Figure 2B) started to show basic activity. How-BC

Figure 2. Serial study of electroencepharogram (EEG) during the clinical courses. A, EEG on admission showed low-voltage
background activity. B, On the 5th day from the admission, brain hypothermia recording revealed basic activity. C, 3-months after admission, recording revealed multi-focal spikes. Epilepsy was partially controlled with oral administration of phenobarbital.

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G. Imataka, Y. Tsuboi, Y. Kano, K. Ogino, T. Tsuchioka, G. Ichikawa, H. Suzumura, O. Arisaka

ever, after approximately one month, partial
seizures were observed in the limbs and we started to administer phenobarbital. As six weeks
passed, she was able to breathe spontaneously.
After three months since the first partial seizures,
although the seizures still persisted, their duration improved to less than a minute. The brain
wave was observed with multifocal spikes (Figure 2C). As oral and tube feeding did not increase her body weight much, we conducted digestive tract contrast enhance study. As we observed gastroesphageal reflux and intestinal malrotation, we had a pediatric surgeon to conduct
gastric fistula, Nissen fundoplication, ladd band
operation and prophylaxic appendectomy on the11-month old infant.

Discussion

In recent years, effectiveness of brain hypothermia therapy has been reported in various
studies10,11. There is evidence of the effectivenessof brain hypothermia therapy for post-resuscitation encephalopathy after cardiopulmonary arrestin adults12 or hypoxic-ischemic encephalopathy innewborn infants13; the therapy was also recommended in the guidelines. The effectiveness of
this therapy for post-resuscitation encephalopathy
in children and hypoxic encephalopathy has beenindicated. However, there are only few cases thathave been reported10,14. After informed consent,
we performed brain hypothermia therapy andsteroid pulse therapy on a seven months old female infant who was strongly suspected to havepost-resuscitation hypoxic encephalopathy. The
therapy was highly effective. As four months after the admission, the patient’s general condition
recovered to the original state, we decided to perform surgical treatment in the abdomen. The
prognosis for trisomy 13 patients is poor and severe pschyco-motor retardation cannot be avoided even with long-term survival. Thus, there is atrend in which aggressive resuscitation treatment
and surgery are not carried out. Although medicalenvironment and way of thinking for human life
differ from country to country setting, a limit on
the treatment due to the diagnosis of trisomy13
without considering the request of the family
members of each individual case might become
discriminatory treatment in terms of medicalethics. In recent years, the effectiveness of cardiac surgery and intensive care management fortrisomy 13 patients has been reported.
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Conclusions

This is the first report in which we have performed brain hypothermia therapy on the trisomy
13 patients with successful outcome. We willneed to accumulate more cases in future in orderto further examine the adaptation and effectiveness of brain hypothermia therapy.

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