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Porencephaly: case report and review

Article  in  Journal of Integrated Health Science · June 2016

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 The Journal of
JIHS Integrated Health Sciences
Available online at www.jihs.in
Case Report

Porencephaly: case report and review

Bhuta P*1, Bhalodiya D1, Patel U1, Muley A3
1
Resident, 2Professor; Department of Medicine, Sumandeep Vidyapeeth, SBKS MI & RC, Piparia, Vadodara,
Gujarat

ABSTRACT
Porencephaly is an extremely rare disorder of the central nervous system defined as a ‘fluid-filled defect
communicating with ventricles or separated from them by a thin layer of brain tissue and covered on the outside
by arachnoid’ and is found to be associated with COL4A1 mutation. Its diagnosis depends on demonstrating a
well-defined CSF-filled space-occupying lesion communicating with ventricles on CT scan or MRI of brain.
There has been no report of porencephaly associated with myesthenia gravis till now. We present a case of
porencephaly who presented with altered sensorium and myesthenia gravis to highlight the point that although
rare at present, its incidence may increase in future. The best way to contain the increase in incidence of
porencephaly is genetic counselling and prenatal testing in affected individuals and those at risk. This will also
help in restricting increase in other disorders related to COL4A1 mutation.

INTRODUCTION CASE HISTORY

Porencephaly is an extremely rare disorder of the
central nervous system. It is defined as a ‘fluid-filled
defect communicating with ventricles or separated
from them by a thin layer of brain tissue and covered
on the outside by arachnoid.’ 1 Damage to the
cerebrum during delivery or as an unnoticed trauma
during infancy may present with porencephaly much
later in life.2 It may be a result of trauma, infection
or hemorrhage in postnatal life. Hypoperfusion may
also cause focal encephalomalacia followed by focal
necrosis of gray and white matter and cystic
degeneration.3 Its diagnosis depends on
demonstrating a well-defined CSF-filled space-
occupying lesion communicating with ventricles on
CT scan or MRI of brain.3
There have been reports of porencephaly with CO
poisoning, cognitive dysfunction, psychosis, CMV
infection, dermoid cyst but there has been no report
of porencephaly associated with myesthenia gravis
till now. We present a case of porencephaly who
presented with altered sensorium and myesthenia
gravis.
*Correspondence:
E-mail: palakbhuta@gmail.com
An eighteen year old unmarried female belonging to
lower socio-economic status presented with altered
sensorium in emergency in our hospital. Her mother
gave history of two vomiting episodes early in the
morning which were non projectile and non foul
smelling. There was history of bodyache and
headache also. After vomiting the patient developed
tightening of all four limbs for about two minutes
and also altered sensorium. After this she became
unconscious and stopped moving limbs. However,
there was no history of uprolling of eye balls, tongue
bite, frothing, deviation of angle of mouth, injury
during the episode, fever, abdominal pain,
hematemesis, diarrhea, head injury, breathlessness,
chest pain, snake bite or ingestion of any unknown
substance. There was no history of similar episode in
the past or delayed development in childhood. There
was no history of any other major or chronic illness
in the past either, but there was history of ear
discharge from both ears on and off since childhood.

Journal of Integrated Health Sciences | Vol IV | Issue I |June 2016 52

Table 1. Lab reports of the patient
Investigation On admission 5th day of admission 10th day of admission
Hemoglobin (gm/dl) 12 10.1 9.4
Total leucocyte count /cu.mm 17300 12300 9900
Differential count 90/5/2/3 76/15/4/5 69/22/4/5
Platelet count/cu.mm 71000 3.25 2.68
Serum sodium (m.eq/l) 131 135 136
Serum potassium (m.eq/l) 5 3.9 4.7
Blood Urea (mg/dl) 22 38 18
Serum Creatinine (mg/dl) 1.1 0.9 0.9
HIV, HBsAg, HCV, PS for MP, malarial antigen, dengue IgM, IgG, NS1, leptospira antibody, urinary pregnancy
test and urine ketones were all negative. Serum Bilirubin - 0.4, SGOT – 46 IU, SGPT – 57 IU. Serum calcium -
9.48, magnesium - 2.1, S.Total protein- 5.38, serum albumin - 2.44, serum globulin- 2.94, Free T3- 2.38, free T4-
1.86, TSH - 1.47
CSF: PH:7, sugar-87,protein-20, albumin-1, ADA-4, LDH-27, total count-10, lymphocytes-100%, ABG: pH-
7.15, PCO2-73.1, PO2-102, HCO3- 20.2
CT Brain: CSF density cystic lesion seen involving right frontal lobe region communicating with frontal horn of
right ventricle with changes of mild hydrocephalus, suggestive of Porencephalic cyst however schizencephalic
cyst cannot be ruled out.
MRI Brain: CSF intensity cystic lesion lined with white matter noted involving right frontal region
communicating with frontal horn of right ventricle, apprearing hyperintense on T2WI and hypointense on T1WI
and FLAIR sequences measuring Approx.. 6.5 x 5.3 x 5.1 cm S/o Porencephalic cyst. Both lateral ventricles are
mildly dilated.

On examination she was a febrile, her pulse rate was
146/min regular, blood pressure was 146/90 mm Hg
in left arm in supine position, respiratory rate was
20/min and spO2 was 85% on O2 at 4 litre/min. She
had pallor but there was no icterus, clubbing,
cyanosis, edema or lymphadenopathy. Hair and skin
appeared to be normal. No scar marks were present.
On systemic examination, there were harsh vesicular
breath sounds and tachycardia in otherwise normal
respiratory and cardiovascular system. Her GCS
(Glass Gow Coma scale) was E1M1V1 so higher
functions, cranial nerves and power could not be
assessed. There was generalised hypotonia with
hyporeflexia in all four limbs. Plantar reflex was not
elicitable. Pupils were unequal and sluggishly
reacting. Meningeal signs were absent. ABG
(Arterial blood gas analysis) revealed respiratory
acidosis. The patient was immediately intubated and
kept on mechanical ventilation. All her lab reports
were within normal limits except increased
neutrophil count and respiratory acidosis.
Presumptive diagnosis of seizure due to intracranial
bleed or infective pathology – meningo encephalitis
or encephalitis or pyomeningitis with postictal state
was made keeping a possibility of venous sinus
thrombosis also. Based on the clinical examination
and lab reports antibiotics, antiepileptics and other
symptomatic and supportive treatment including
mannitol was started.
Next day the patient developed moderate to high
grade continuous fever. After two days of treatment,
patient gradually became conscious and oriented.
She started responding to commands but flaccid
quadruparesis persisted with ptosis and nonreacting
pupils. This raised a possibility of snakebite or
myaesthenia so anti snake venom was given but no
improvement was seen. However neostigmine test
turned out to be positive suggesting presence of

Journal of Integrated Health Sciences | Vol IV | Issue I |June 2016 53

myasthenia gravis. CT scan head revealed presence
of porencephalic cyst which was confirmed on MRI.

Figure 1. CT head revealing frontal cyst

communicating with frontal horn of right
ventricle

DISCUSSION
Porencephaly is a rare congenital disorder of the
CNS with a cyst or a cavity filled with cerebrospinal
fluid in the brain’s parenchyma.4,5 It is usually a
result of damage from stroke or infection after birth
(more common), but it may also be caused due to
abnormal development before birth (which is
inherited and less common). The common
etiological factors include infections, anoxia and
exposure to aggressing factors.6,7 These injuries lead
to destruction of brain tissue and cavitations which
may manifest as multicystic encephalomalacia
(MCE) or porencephaly (POR). Insults caused
towards the end of pregnancy, during delivery or
during the first days of life lead to MCE as they
reach an already matured brain able to express
differentiated tissue responses. They cause lesions of
imprecise limits containing trabeculae with glial
reaction of varying degrees.6,8-12 Insults occurring at
the end of the second or the beginning of the third
Figure 2. MRI Brain showing CSF intensity
cystic lesion lined with white matter in right
frontal region communicating with frontal horn
of right ventricle, apprearing hyperintense on
T2WI and hypointense on T1WI and FLAIR
sequences – suggestive of Porencephalic
trimester of pregnancy manifest as POR as they
affect an immature brain unable to express
significant astrocyte reaction. This results in
formation of a smooth walled cavity with defined
boundaries and little or no perilesional gliosis.
It is usually diagnosed in infancy. Infants with
porencephaly may exhibit hemiparesis or hemiplegia
contralateral to the lesion with developmental
delay.13,14 Other complications include distal
hypertonicity, spasticity and truncal ataxia.13 Rarely,
a porencephalic cyst may or present with CSF
rhinorrhea or otorrhea.15,16 They may have poor or

Journal of Integrated Health Sciences | Vol IV | Issue I |June 2016 54

absent speech development, epilepsy,
hydrocephalus, spastic contracture and cognitive
impairment. Occasionally children with
porencephaly have normal neurological development
but no specific data is available.
The differential diagnosis of porencephaly includes
schizencephaly, arachnoid cysts, cystic neoplasms
and hydrocephalus. In schizencephaly, there are
clefts with smooth contours while in porencephaly,
cavities are round with a jagged contour and may
contain blood clots or debris. Fetal MRI may be
helpful in the third trimester to see if defect is lined
with white matter (porencephaly) or gray matter
(schizencephaly). Arachnoid cysts are usually
smooth-walled, asymmetrical and do not
communicate with the lateral ventricles. They also
have a mass effect which is not seen in
porencephaly. Cystic neoplasms are rare and they
also have a mass effect with both solid and cystic
components. Hydrocephalus can be easily
distinguished from porencephaly by noting the
distinguishing features of hydrocephalus. 17
The prognosis of porencephaly depends on the
location and extent of the cyst.3 In some patients it
presents as minor neurological problems without
affecting intelligence, our patient presented with
associated myaesthenia which has not been reported
previously. It may also present with serious life-
threatening disabilities leading to death even before
the second decade.
At present no specific treatment is available. The
various treatment options used are removing the
cysts surgically, antiepileptics, placing a shunt,
rehabilitation and physical therapies. Lifelong
treatment and monitoring is necessary for the most
severe cases.
COL4A1 has been proved to be a major locus for
genetic predisposition to perinatal cerebral
haemorrhage and porencephaly. 18 Many other
diseases have also been proved to be associated with
COL4A1 mutations. These disorders cover a
spectrum of overlapping phenotypes characterized
by a small-vessel brain disease of varying severity
Journal of Integrated Health Sciences | Vol IV | Issue I |June 2016
including porencephaly, variably associated with eye
defects (congenital cataract, retinal arterial
tortuosity, eye anterior segment anomaly of
Axenfeld-Rieger type) and systemic findings
(muscle cramps and/or serum creatine kinase (CK)
elevation, kidney involvement, cerebral aneurysms,
Raynaud phenomenon, cardiac arrhythmia, and
hemolytic anemia).19–22
The COL4A1-related disorders are inherited in an
autosomal dominant manner. Thus, most individuals
diagnosed with a COL4A1-related disorder have an
affected parent. However the family history in some
may be negative. The proportion of cases caused by
a de novo pathogenic variant is estimated to be at
least 27%.23 This is supposed to be because of
failure to recognize the disorder in family members,
early death of the parent before onset of symptoms,
or late onset of the disease in the affected parent.
Therefore, an apparently negative family history
should be confirmed with molecular genetic testing
of the parents.
The diagnosis of a COL4A1-related disorder is
established in a patient with suggestive features and
the identification of a heterozygous pathogenic
variant in COL4A1. Once the COL4A1 pathogenic
variant has been identified in an affected family
member, prenatal testing and pre implantation
genetic diagnosis for a pregnancy at increased risk
for a COL4A1-related disorder may be done.
Genetic counselling can lower the risk of recurrence
in familial cases. The optimal time for determination
of genetic risk and discussion of the availability of
prenatal testing is before pregnancy. Cesarean
delivery is recommended for pregnancies in which
the fetus is at risk for a COL4A1-related disorder to
prevent brain vascular injury.22
Conclusion: Porencephaly is at present a rare genetic
disorder which has been lately proved to be
associated with COL4A1 mutation which has
autosomal dominant inheritance and can manifest as
many entities other than porencephaly. Thus,
although rare at present, its incidence may increase
in future. The best way to contain the increase in
55
incidence of porencephaly is genetic counselling and
prenatal testing in affected individuals and those at
risk. This will also help in restricting increase in
other disorders related to COL4A1 mutation.
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