Case Report A Case of Cerebral Hypoxia with Co

J.Neurol.Sci.[Turk]
Journal of Neurological Sciences [Turkish] 26:(1)# 18;079-082, 2009
http://www.jns.dergisi.org/text.php3?id=253
Case Report
A Case of Cerebral Hypoxia with Co-existing Corpus Callosum Agenesis and
Colpocephaly Manifesting as Mild Mental Retardation
Sofia MOURGELA1, Sofia ANAGNOSTOPOULOU2, Antonios SAKELLAROPOULOS3,
Irini GAZELOPOULOU4
1
Agios Savvas Anticancer Institute, Neurosurgical, Department, Athens, Greece 2University of
Athens, Department of Anatomy, Athens, Greece 3“Atheneon B” Hospital, Pulmonary and
Critical Care Medicine, Athens, Greece 4“Agia Sofia” Pediatric Hospital, Athens, Greece,
Department of Anesthesiology, Athens, Greece
Abstract
This is the case of a 9-year old female patient who initially had been admitted in the pediatric
hospital “Agia Sofia” as a newborn, because of severe brain hypoxia, due to persistent fetal
circulation. Then, at the age of 3 years, she had been managed in the same hospital, because
of an episode of febrile tonic-clonic spasms. Brain CT revealed total absence of the corpus
callosum and colpocephaly. The clinical picture of the child is that of mild mental retardation
accompanied by epileptic attacks, although the coexistent agenesis of the corpus callosum and
colpocephaly. From this case, we conclude that these pathological entities may have no
cumulative effect on the clinical picture of a patient when they coexist.
Keywords: Cerebral hypoxia-corpus callosum agenesis-colpocephaly-mental retardation
Hafif Mental Retardasyon ile Kendini Gösteren Serebral Hipoksi ile Korpus Kallosum
Agenezi ve Kolposefalisi Olan Bir Olgu Sunumu
Özet
Yeni doğan olarak Agia Sofia çocuk hastanesine inatçı fötal dolaşıma bağlı gelişen ağır beyin
hipoksisi nedeniyle kabul edilen şimdi 9 yaşında olan bir kız hastanın olgu sunumudur. Hasta
3 yaşında iken yine aynı hastanede febril tonik-klonik nöbetleri nedeniyle de tedavi altına
alınmıştır. Beyin BT tetkiki korpus kallozumun total olarak agenezini ve kolposefaliyi
gösterdi. Hastanın klinik tablosu hafif bir mental retardasyonla birlikte epileptik nöbetler
şeklindedir ve bu durum korpus kallosum agenezi ve kolposefali olmasına rağmendir. Bu
olguya bakarak biz birlikte görülen patolojik özelliklerin klinikte görülenler üzerinde
kümülatif bir etkisi olmadığı sonucuna vardık.
Anahtar Kelimeler:
retardasyon
Serebral
hipoksi-korpus
kallozum
agenezi-kolposefali-mental
hemispheres of the brain does not develop
typically in utero, has been correlated with
inherited genetic factors, prenatal infection
or injuries, prenatal toxic exposures,
structural blockage by cysts or other brain
abnormalities, metabolic disorders and
chromosome errors such as unequal
chromosome x inactivation or deletion of
INTRODUCTION
Malformations of the corpus callosum are
relatively common disorders(9), diagnosed
sometimes accidentally presenting with a
broad range of clinical manifestations and
no unique prognosis(2). Agenesis of the
corpus callosum which occurs when the
band of tissue connecting the two
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the short arm of Chromosome 1(9). Clinical
features include mental retardation or
cerebellar signs (intention tremor, poor
coordination,
speech
ataxia)
and
psychiatric disturbances, ranging from
normal to severe psychomotor function.(11)
an episode of febrile tonic-clonic spasms.
Tonic-clonic spasms were located mostly
on the left side of her body, and were
accompanied by visual fixation spasms of
the right side of her mouth of ten minutes
duration, and by high temperature. She
underwent brain CT that revealed agenesis
of the corpus callosum and colpocephaly.
Colpocephaly is an abnormal congenital
enlargement of the occipital horns of the
lateral ventricles, which has been
associated with learning disability,
seizures, motor and visual abnormalities.
There is evidence of genetic transmission,
either X-linked or autosomal dominant(4).
We describe a case of a 9-year-old female
patient who underwent severe hypoxia
during birth with concomitant agenesis of
the corpus callosum and colpocephaly
without evidence of genetic transmission.
Although the coexistence of all these
pathological entities the clinical picture
was that of mild mental retardation.
The recent clinical picture is that of an
hyperactive girl, with normal somatometric
parameters, mild mental retardation,
inability to focus, satisfactory social
communication and perception, speech
disorder and epilepsy treated appropriately
with anticonvulsive drug therapy.
Examination results
The physical examination revealed no
pathologic findings no altered pain
perception or sensitivity. The head
circumference measurement was normal
and no spinal abnormalities were observed.
The results of all laboratory and genetic
tests were normal. Thoracic plain x-rays
revealed no further pathological findings.
Ocular examination showed no edema in
the eye funds. Brain CT scan revealed
agenesis of the corpus callosum,
pathologic dilatation of the occipital horns
of the lateral ventricles (colpocephaly) and
dilatation of the cerebellospinal cistern,
without hemispheric hypoplasia. Gray
matter was situated more medial than
normal, relative to the position of the
midline structures.
CASE PRESENTATION
Presentation
This 9-year old female patient had been
admitted to the outpatient department of
the pediatric “Agia Sofia” hospital
initially, as a newborn, because of severe
hypoxia due to persistent embryonic
circulation (patent ductus arteriosus). She
was born by caesarian section after 37
weeks of gestation because of cardiac
arrhythmia as fetus.
A the age of 3 years she had been
presented to the same hospital, because of
Fig 1a, 1b: Brain CT-scans: agenesis of the corpus callosum and colpocephaly.
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J.Neurol.Sci.[Turk]
Fig 2a, 2b: Central location of gray matter masses
other organ malformations, but was
associated with colpocephaly and an
enlarged cerebellospinal cistern (fig.1a,
1b).
DISCUSSION
Callosal
dysgenesis
implies
a
malformation of the corpus callosum
originating in the embryogenesis of the
telencephalon. The term ‘dysgenesis
(malformation)' includes three distinct
categories: agenesis (total absence),
hypogenesis (partial formation), and
hypoplasia (underdevelopment). The basis
of this distinction relies on considerations
about neural tube closure, formation and
maintenance of the massa commisuralis
inductive plate, and migration of the
neuronal elements of the cerebral cortex
responsible for the projection of the corpus
callosum commisural fibers. These
processes are somewhat interdependent in
their expression resulting in a mosaic of
callosal and cortical gray matter
arrangement
and
hemispheric
clinicoradiologic manifestations(7).
Colpocephaly has a typical association
with learning disability, seizures, motor
and visual abnormalities. There are only
two literature reports of genetically
transmitted colpocephaly hypothesized in
identical twins(4).
In this case we have studied, there was not
found evidence of genetic transmission
neither for the corpus callosum agenesis
nor for the colpocephaly. The child had no
altered pain perception or sensitivity(6), no
spinal dysraphism, no hemispheric
abnormalities(8), and no abnormal head
circumference(5).
Although all three pathological entities,
corpus callosum agenesis, colpocephaly
and brain hypoxia, have been associated
with developmental delay, learning
disability,
seizures,
and
motor
abnormalities, what is promising for this
child is that her dysfunction have not
progressed over time. Furthermore, masses
of gray matter on brain CT have adopted a
more medial location relative to the
midline structures (fig.2a, 2b), a finding
that probably facilitates the development of
extracallosal means of interhemispheric
communication. Such reorganization of
Mutations in the neural cell adhesion,
which is necessary for the development of
synaptic connections, cause an X-linked
mental retardation syndrome, termed
CRASH ( corpus callosum hypoplasia,
mental retardation, aphasia, spastic
paraplegia, and hydrocephalus)(10).
Agenesis of the corpus callosum is
accompanied by in many cases other of
organ malformation(10). In our case corpus
callosum agenesis was not associated with
81
J.Neurol.Sci.[Turk]
brain regions and interconnections already
is demonstrated for the visual cortex in
callosal agenesis and colpocephaly(3).
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1.
These findings may be correlated with the
mild clinical picture this child has. The
clinical observation that the symptoms of
interhemispheric disconnection are much
less severe in total callosal agenesis than in
partial callosal agenesis or even than what
is observed after surgical section of the
corpus callosum(1). This may be of
significant value in prenatal counseling.
Correspondence to:
Sofia Mourgela
E-mail: [email protected]
Received by: 11 August 2007
Revised by: 24 January 2008
Accepted : 28 January 2008
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