Case Report

The Neuroradiology Journal

0(00) 1–3

Neuroradiological findings of trisomy 13 ! The Author(s) 2017

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in a rare long-term survivor DOI: 10.1177/1971400916689575
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Ryan D Goff1 and Bruno P Soares2

Abstract
Patau syndrome remains a difficult diagnosis for parents and a challenging conversation for clinicians due to the overall
poor prognosis. Previous population-based reports have documented the sobering life expectancies of these patients, with
few surviving to 1 year of age. Despite the high mortality rate in infants born with trisomy 13, there are several reports of
survival into late childhood and early adulthood. While clinical outcomes have been well documented, there has been a
paucity of literature describing postnatal imaging findings in long-term survivors. We present a case report of a 2-year-old
girl with trisomy 13 who underwent brain magnetic resonance imaging examination at our institution to evaluate for
possible structural abnormalities contributing to central sleep apnea. We describe the clinical and postnatal neuroimaging
findings of this rare patient with trisomy 13. Understanding the spectrum of neuroradiological findings in long-term
survivors with trisomy 13, in combination with other organ system abnormalities, could add important clinical information
and help better predict patient outcomes and expectations among parents.

Keywords
Brain malformations, MRI, neuroimaging, Patau syndrome, trisomy 13

We present a case of trisomy 13 in a 2-year-old girl

Introduction
Trisomy 13, or Patau syndrome, is a rare chromosomal
anomaly with an incidence of approximately 1 in 5000
to 1 in 20,000 live births.1,2 It is the third most common
autosomal triploidy in liveborn infants, after trisomy
21 and 18. Patau syndrome is the most lethal of all
the viable trisomies, with most resulting in spontaneous
abortion, fetal demise, or stillbirths. Those that do
survive to birth typically die in the early postnatal
period as emphasized by a median survival age of 2.5
to 8.5 days.3–5 Recent data show that only 9.7% of
children with trisomy 13 reach 5 years of age.6 There
are rare reported cases of these patients surviving into
late childhood and early adulthood, with the oldest
documented survivor reaching 19 years of age.7
There are well documented imaging findings in
patients with Patau syndrome, which primarily come
from in utero ultrasound in the obstetrics and gyne-
cology literature. Classically described distinguishing
syndromic features are largely a result of mal-
formations of midline development and include holo-
prosencephaly, cleft lip/palate, structural ocular
abnormalities, Dandy Walker malformation, hydro-
cephalus, agenesis of the corpus callosum, neural tube
defects, and cardiac anomalies. Postaxial polydactyly is
another common finding that can be seen in prenatal
ultrasound examinations.
who underwent magnetic resonance imaging (MRI)
examination of the brain to assess for structural
abnormalities contributing to clinically diagnosed cen-
tral sleep apnea. This case report provides a rare insight
into the intracranial manifestations of this syndrome
with high resolution MRI. To the best of our know-
ledge, there are no peer-reviewed papers describing
postnatal neuroimaging findings of full trisomy 13
using MRI.
Clinical presentation
A 2-year-old girl presented to our radiology depart-
ment for MRI examination of the brain to assess for
structural abnormalities contributing to central sleep
apnea. The patient’s medical history consisted of a
full-term delivery with prenatal ultrasound remarkable
for a prominent gallbladder, duplicated superior vena
1
Inland Imaging, Washington, USA
2
Russell H Morgan Department of Radiology and Radiological Science, The
Johns Hopkins Hospital, USA
Corresponding author:
Bruno P Soares, Russell H Morgan Department of Radiology and
Radiological Science, The Johns Hopkins Hospital, 1800 Orleans Street,
Room 4174, Baltimore, MD 21287, USA.
Email: bruno.soares@jhmi.edu
2 The Neuroradiology Journal 0(00)

cava, decreased abdominal circumference, nuchal cord,
and oligohydramnios. Initial neonatal physical examin-
ation demonstrated borderline microcephaly, short
back-sloping forehead, deep-set orbits, bulbous nose
with crease above the nasal root, low-set ears, intact
palate, single transverse palmar crease, tapered fingers,
and squared great toes. Based on the prenatal ultra-
sound findings and dysmorphic features on physical
examination, an underlying genetic syndrome was sus-
pected. Subsequent chromosomal analysis (30 cells
were counted) confirmed complete trisomy 13 without
translocation or mosaicism.
The patient had several medical problems since
birth, primarily related to congestive heart failure
from multiple congenital cardiac defects discovered
postnatally, including atrial and ventricular septal
defects as well as bicuspid aortic valve.
Gastrointestinal problems included small bowel malro-
tation and gastroesophageal reflux requiring Nissen
fundoplication. Neurological problems included epi-
lepsy and developmental delay. Following surgical
repair of the cardiac anomalies, the patient began
experiencing apneic spells and was subsequently diag-
nosed with severe central sleep apnea. This led to fur-
ther investigation with brain MRI to assess for
contributing structural brain abnormalities such as a
Chiari I malformation.
Imaging
An MRI scan of the brain was performed without
intravenous contrast with the indication to evaluate
for structural abnormalities to explain chronic central
sleep apnea. A standard complement of pulse sequences
was performed including three-dimensional gradient-
recalled echo T1-weighted, fast spin echo T2-weighted,
and T2-fluid-attenuated inversion recovery sequences in
multiple planes. Images demonstrated several intracra-
nial abnormalities (Figure 1). Notably, however, the
cerebral hemispheric separation was normal without
holoprosencephaly. The cerebral gyral and myelination
pattern was age appropriate. The ventricles were thin
and elongated with a somewhat parallel morphology at
the level of the posterior body. The corpus callosum
was mildly hypoplastic, primarily manifested by
decreased anterior–posterior dimension. The cerebel-
lum was dysmorphic with abnormal foliation pattern
and superior vermian hypoplasia. A large cisterna
magna was also present. There was severe microphthal-
mia bilaterally. In addition, a triangular band of tissue
was seen from the posterior aspect of the lens to the
optic disc consistent with persistent hyperplastic pri-
mary vitreous. This results from failure of regression
of the embryonic hyaloid vascular system.
Discussion
Patau syndrome remains an often lethal diagnosis with
most dying in utero or in the first few days after birth.
Several studies have assessed survival in trisomy 13, the
results of which emphasize the dismal prognosis. As
expected, there is a clear survival difference based on
whether the diagnosis was made in the prenatal or post-
natal period. In those diagnosed prenatally, 96% had
died by the end of the first week of life. With a post-
natal diagnosis, survival is slightly better with 3–10% of
patients alive by the end of the first 5 years of life.1,2,6–8
The variability in patient survival is not fully under-
stood but possible contributing factors include race,
gender, genetic mosaicism or translocations, variable
expressivity, among others.
A wide spectrum of clinical manifestations and
expressivity has been described, accounting for the
variability in patient survival. Similarly, differences

Figure 1. Sagittal T1-weighted image (a) demonstrates mild hypoplasia of the corpus callosum with decreased anterior–posterior length.
Axial T2-weighted images (b and c) depict normal cerebral hemispheric sulcation, gyration and myelination pattern for age. There is a
dysmorphic appearance of the posterior body of the lateral ventricles which appear mildly elongated. There is abnormal foliation pattern
of the superior cerebellar hemispheres with cerebellar vermian hypoplasia. At the level of the orbits (c), there is severe microphthalmia
bilaterally with a triangular band of tissue spanning from the posterior aspect of the lens to the optic disc consistent with persistent
hyperplastic primary vitreous.
Goff and Soares
in imaging findings in patients with trisomy 13 are also
common and, predictably, the number and severity of
anomalies often directly correlates with survival.9
Structural abnormalities of the central nervous system
(CNS) are abundant with the hallmark being the holo-
prosencephaly spectrum as well as other anomalies of
midline development, particularly agenesis of the
corpus callosum. Other described CNS defects include
cerebellar hypoplasia, enlarged cisterna magna, ventri-
culomegaly, and neural tube defects. Craniofacial
abnormalities include microcephaly, cleft lip/palate,
microphthalmia, and hypotelorism. A prenatal ultra-
sound review of 33 patients with trisomy 13 showed
the prevalence of various ultrasound abnormalities:
holoprosencephaly (33%), large cisterna magna
(18%), cerebral ventricular dilatation (9%), facial
anomalies (48%), renal (33%) and cardiac (48%)
defects [10]. Few reports exist describing CNS anoma-
lies in long-term survivors using cross-sectional
imaging, and fewer still with MRI. A report of a
7-year-old boy with mosaic trisomy 13 who underwent
MRI examination demonstrated ventriculomegaly,
hypoplasia of the septum pellucidum, and thinning of
the splenium of the corpus callosum.11 Another report
of an 11-year-old survivor with trisomy 13 briefly
described computed tomography findings including
mild cortical and cerebellar vermis superior atrophy.12
Our case of a 2-year-old girl with trisomy 13 demon-
strated relatively mild morphological CNS manifest-
ations of this syndrome, including cerebellar
dysmorphism, corpus callosum hypoplasia, abnormal
ventricular morphology, microphthalmia, and persis-
tent hyperplastic primary vitreous. This case provides
a unique insight into the spectrum of CNS findings in a
rare, relatively long-term survivor with high quality
MRI. Understanding the spectrum of neuroradiologi-
cal findings in long-term survivors with trisomy 13,
together with other organ system abnormalities, could
add important clinical information. In particular, it
may help better predict patient outcomes and overall
patient functioning in addition to potentially assisting
in expectation discussions with parents.
Funding
This research received no specific grant from any funding
agency in the public, commercial, or not-for-profit sectors.
3
Conflict of interest
The authors declared no potential conflicts of interest with
respect to the research, authorship, and/or publication of this
article.
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