Hydrancephaly is a rare brain malformation in which there is near total absence of

cerebral hemispheres. The child may appear normal at birth but usually has a large
head. The diagnosis is established by CT or MRI and there is no known treatment. This
is a report of two cases of hydrancephaly diagnosed at our hospital.
Keywords: hydrancephaly; vascular insult; hydrocephalus.
INTRODUCTION
Hydrancephaly is a rare congenital
malformation of the brain with devastating
complications. We report two cases of
hydrancephaly diagnosed at our hospital in
the last four years.
Hydranencephaly - In utero destruction of cerebral parenchyma with intact falx and preservation of posterior fossa
structures.
Cerebrum replaced with CSF.
Caused by in utero occlusion of bilateral supraclinoid internal carotid arteries. Etiology unclear (hereditary
thrombophilic states, infection, maternal irradiation/toxin exposure, twin-twin transfusion, intrauterine anoxia).
Rarely unilateral
Occurs approximately <1:10000 births, greatest incidence in teenage mothers.
Clinically, present with macrocephaly, developmental delay, irritability, hyperreflexia, seizures.
Often seen with prenatal ultrasound (anechoic cranial vault).
On CT and MR (best characterized with MR) – CSF attenuation/signal intensity replacing the supratentorial brain
parenchyma with sparing of thalami, brain stem, cerebellum, and choroid plexus.
Falx is intact (distinguishes from holoprosencephaly).
No thin rim of cerebral parenchyma (distinguishes from severe hydrocephalus).
Prognosis is poor – usually death in infancy.
Treatment is supportive care, shunting to decrease head growth.

Hydranencephaly is a congenital malformation of the brain characterized by the absence of the cerebral hemispheres,
an incomplete or absent falx and a saclike structure containing cerebral spinal fluid surrounding the brainstem and basal
ganglia5. Approximately 1 percent of infants thought to have hydrocephalus by clinical examination are later found to
have hydranencephaly3. Hydranencephaly is found in 0.2% of infant autopsies4.

Etiology

Five etiologies have been described. They include:

1) Bilateral occlusion of the supraclinoid segment of the internal carotid arteries or of the middle cerebral arteries6.
Myers described the surgical ligation of the common carotid arteries and jugular veins of a rhesus monkey fetus of 84-
86 days of gestational age. On subsequent post mortem examination, the fetal head was fully developed and of normal
conformation. The cerebral hemispheres, however, were thin membranous sacs filled with cerebrospinal fluid. The
brainstem and cerebellum were unremarkable on gross examination. Similar procedures performed at later gestational
ages typically demonstrated less severe cerebral dysgenesis. Thus, it was reasoned that the magnitude of cerebral
dysgenesis appears to be a function of the gestational age of the fetus at the time of the vascular accident.

2) An extreme form of leuko malacia formed by confluence of multiple cystic cavities1.

3) Diffuse hypoxic-ischemic brain necrosis. Fetal hypoxia due to maternal exposure to carbon monoxide or butane gas
may result in massive tissue necrosis. Subsequent cavitation and resorption of necrotized tissue creates the
characteristic findings7.

4) Infection - necrotizing vasculitis or local destruction of the brain tissue: congenital toxoplasmosis, cytomegalovirus,
and Herpes simplex infections (HSV) have been associated with multiple cases of hydrancephaly.8,10 There is an
increased incidence of spontaneous abortion following a maternal Herpes infection in early gestation. Fetal infectins
with HSV and toxoplasmosis are frequently associated with central nervous system and occular anomalies later in
gestation8,9,10,11.

5) Thromboplastic material from a deceased co-twin: monochorionic twins have presented with a variety of cerebral
lesions. Lesions in the recipient twin result from emboli or thromboplastic material originating from the macerated co-
twin1. Coincident blood pressure instability and episodes of severe hypotension may lead to brain and visceral lesions
in the recipient twin.

Pathogenesis

In its classical form, the cerebral hemispheres are reduced to a thin layer of tissue made of pia-arachnoid membrane, a
molecular layer, and abundant cerebrospinal fluid.1 The falx cerebri is absent or hypoplastic and the lateral ventricles
are represented by a single cavity surrounding the paired basal ganglia. The basal portion of the frontal, temporal, and
occipital lobes may be preserved depending on the variations in collateral blood supply. The thalamus, basal ganglia,
brainstem, and cerebellum are preserved due to flow from the basilar artery.

Associated anomalies

Aside from consequential arthrogryposis, hydranencephaly has been associated with syndromes including renal aplastic
dysplasia, polyvalvular developmental heart defect12 and with trisomy 13.

Diagnosis

On ultrasound, hydrancephaly presents as a large cystic mass filling the entire cranial cavity with absence or
discontinuity of the cerebral cortex and of the midline echo14. The appearance of the thalami and brainstem protruding
inside a cystic cavity is characteristic. With either extreme hydrocephaly, alobar holoprosencephaly or porencephaly,
these structures should still be surrounded by a rim of cortex, and the choroid plexuses should be normally visible. The
initial diagnosis of hydrancephaly may be difficult when the infarction and hemorrhage is an evolving process. Recent
hemorrhage is typically echogenic while an organizing clot assumes a more transonic texture15. Layering of this debris
may masquerade as cortical tissue. Finally, the clot lyses and becomes an anechoic liquid characteristic of
hydrancephaly15.

The post partum diagnosis of hydrancephaly was historically done by neurologic exam and transillumination of the
skull. Today, magnetic resonance imaging (MRI) and evoked potentials can confirm the ultrasound findings. MRI
provides excellent resolution of tissue composition and visualization of precise anatomical planes. Computer assisted
reconstruction of multiple planes may differentiate hydrancephaly from alobar holoprosencephaly or maximal
hydrocephaly resulting in different management strategies16.

Electroretinograms will demonstrate that the retina is electrically functional. The clinical light reflex suggests an intact
optic pathway to the pretectal area. The absence of flash visual evoked potentials, however, implies that the pathway
including the lateral geniculate nucleus, optic radiations, and occipital cortex is nonfunctional11. Similar findings have
been documented in the auditory pathways11.

Differential diagnosisThe most common diagnostic problem is differentiation among hydranencephaly, extreme
hydrocephalus, alobar holoprosencephaly and porencephaly. Some spared cortical mantle should still be seen
with porencephaly and alobar holoprosencephaly. Serial sonograms may be necessary to evaluate an evolving
intracranial process. Extreme hydrocephalus may be difficult to differentiate form hydranencephaly if a falx
remnant is present4. The presence of even minimal frontal cerebral cortex, however, indicates extreme
hydrocephalus instead of hydranencephaly4. At autopsy, differentiation can be made by examining the lining
of hte cystic structures. Leptomeninges will be found in hydranencephaly while ependyma lines the
ventricular system in hydrocephalus4. Magnetic Resonance Imaging may serve as an additional means for
confirming the ultrasound diagnosis.

PrognosisThe prognosis is universally poor. Reflex activity is present in infants with hydranencephaly. Irritability,
clonus, and hyperreflexia are common. Survival may last several months if an intact hypothalamus permits
thermoregulation, but most die in the first year of life19.

Recurrence risk

A persistant infectious disorder may be a cause for recurrent e

ncephaloclastic damage in the same sibship17.

Obstetrical management

The distinction between hydranencephaly and maximal hydrocephaly is important for the prognosis15. Sutton and
associates18 followed 10 neonates with serial computed tomography, electroencephalograms, and developmental
evaluations for 4-23 months. Two syndromes were defined. The five infants with hydranencephaly demonstrated
neither neurologic nor radiologic improvement beyond 1 month of age despite aggressive surgical management and
shunt placement. The five infants with maximal hydrocephalus improved dramatically over time following shunt
placement.

It has been suggested that termination of pregnancy as late as the third trimester may be justified when an antenatal
diagnosis of hydranencephaly is made. The criteria for termination includes the availability of reliable diagnostic tests
that can accurately predict a condition that is either incompatible with post-natal life or characterized by the absence of
cognitive function20. If termination of pregnancy is contemplated, chromosomal analysis, serology
for CMV, toxoplasmosis, and Herpes cultures should be obtained as these findings may aid in counseling for future
pregnancies