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Hydranencephaly in a case of suspected infanticide
Abstract
An abandoned fetus with suspicious skin injuries was found dead, lying on the grass of a garden, near a private house. Suspecting infanticide, the prosecutor ordered a medico-legal autopsy. The cause of death was identified as a congenital malformation of the central nervous system such as hydranencephaly, and infanticide was excluded.
... This is the third case study in forensic literature that we are aware of [4,5]. ...
Hydranencephaly is a central nervous system disorder at birth in which brain's cerebral hemispheres are absent and replaced by sacks filled with CSF. The prevalence of hydranencephaly is less than 1 in 10,000 births, with 0.2 percent of children autopsies showing the condition.
Hydranencephaly is characterized by severe dysgenesis of the cerebral hemispheres, with relative preservation of the thalamus, cerebellum and brainstem. Modern neurological imaging techniques have demonstrated that the affected regions are usually localized within the territories of the middle cerebral arteries. Evoked potentials have confirmed the imaging findings. This article reports on two neonates with hydranencephaly who presented with normal appearance. Neurological images were characterized by marked reduction of the total brain cortex, which was replaced by fluid. Evoked potentials demonstrated preserved auditory evoked potentials but a total absence of visual evoked potentials. These diagnostic techniques provided efficient and precise information concerning the extent of intracranial dysgenesis.
Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses of hydranencephaly include severe hydrocephalus and alobar holoprosencephaly. Nearly all cases are sporadic, involving approximately 1 in 5000 continuing pregnancies. The exact main cause is still unknown, but hydranencephaly is usually found to develop secondarily to the occlusion of cerebral arteries above the supraclinoid level. We present the case of a 1-month-old male infant with hydranencephaly initially thought to be severely hydrocephalus via routine antenatal intrauterine sonography performed at 35 weeks of gestation. Hydranencephaly was confirmed by brain sonography, brain magnetic resonance imaging and magnetic resonance angiography postnatally. We discuss several imaging features that are helpful in distinguishing hydranencephaly from extreme hydrocephaly. Different theories that have been recently proposed regarding the origin of hydranencephaly are reviewed.
Hydranencephaly is a massive hemispheric necrosis occurring in the fetus, with removal of the resultant debris leaving bilateral cystic structures, but usually sparing the basal ganglia, the brainstem, and the cerebellum.1, 2 The typical "vascular-like" distribution of the lesions in hydranencephaly led to the hypothesis of an ischemic etiology, partially confirmed by animal models of carotid ligation reproducing the gross appearance of the disease. Immediately after birth, hydranencephaly may be clinically and radiologically indistinguishable from massive hydrocephalus. The differentiation between the two conditions relies on the morphology of the cerebral arteries.3 Hydranencephaly is said to be associated with bilateral internal carotid artery (ICA) occlusion, while in hydrocephalus the cerebral arteries distal to the ICA termination are splayed and distorted but present.3 However, this vascular definition appears too restrictive, in particular if one considers the almost total absence of cortical mantle characteristic of hydranencephaly only as the most extreme form of a continuum of vascular lesions.1 We report here the case of a newborn baby with a suspicion of hydranencephaly confirmed by CT angiography. The technical aspect of the imaging study is discussed, and the vascular anatomy of hydranencephaly is reviewed.
Hydranencephaly is a severe congenital condition where most of the cerebral hemispheres are replaced by a membranous sac. Despite the growing amount of case reports, most pathogenic, phenotypic, and prognostic aspects of hydranencephaly remain controversial. By matching the recent literature data with the findings of our own series (four cases: two fetuses at the twelfth gestational week, a 32-year-old man, and a 14-year-old female), we attempted to date back the insult leading to hydranencephaly to understand its pathogenesis and to explain the basis of its protean phenotype. The variable detection of cerebral remnants seems to mirror the developmental pathway of cerebral arteries. Moreover, fetal and postnatal neuroimaging data and histopathologic findings point toward an early bilateral internal carotid artery occlusion, mostly occurring between the eighth and twelfth gestational weeks, as the main pathogenic mechanism of hydranencephaly.
Hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with hydranencephaly and congenital vascular malformations (port wine stains, generalized nevus flammeus, anomalous retinal vessels, and absent internal carotid flow). Magnetic resonance imaging of the brain showed absence of most of the cerebrum except for small portions of the occipital cortex and thalami. Magnetic resonance angiography showed flow within the vertebral and basilar arteries without internal carotid intracranial flow above the internal carotid petrous and cavernous portion. This is a report of cutaneous and retinal malformations associated with hydranencephaly. Vascular malformations of larger vessels (e.g., webbing of the carotid arteries and an absent internal carotid arterial system) have been observed in other infants with hydranencephaly, and are proposed to lead to brain destruction. The case reported herein supports the role of primary vascular malformations in the development of some cases of hydranencephaly. © 2001 Wiley-Liss, Inc.
Hydranencephaly is an encephaloclastic central nervous system disorder characterised by severe destruction of the cerebral hemispheres with preservation of posterior fossa structures. We present MRI and neurosonography features of a unique case of hydranencephaly involving cerebellum (in the form of complete liquefaction of cerebellar hemispheres) and cerebral hemispheres with associated bilateral microphthalmia and ocular colobomas. This is an exceptional case as to the best to our knowledge. In humans, such a severe involvement of cerebellum has not been reported in cases of hydranencephaly. It is essential to distinguish hydranencephaly from gross hydrocephalus, as treatment and prognosis of the two are totally different. During differentiation, it is important to remember that severe cerebellar involvement can be seen in hydranencephaly.
Post-mortem magnetic resonance appears to be a method supplementary to classic pathological-anatomical autopsy in determining foetal abnormalities. Frequently, it plays a key role, primarily where autopsy options are in some way limited (developed autolysis, dilatation of the ventricular system). This case report demonstrates that post-mortem magnetic resonance imaging can precisely determine the type of congenital malformation (hydranencephaly), by contrast to ultrasound, with which alobar holoprosencephaly has been described, often presenting a differential diagnosis problem. Pathological-anatomical autopsy was significantly limited due to this diagnosis and this methodology was incapable of unequivocally determining the type of malformation. We would like to demonstrate by this case report the necessity of performing post-mortem magnetic resonance imaging so that we may precisely determine the diagnosis as requested by the parents and also be able to answer the question posed by risks for future pregnancies.
Four cases of congenital toxoplasmosis with hydranencephaly are reported. The anatomic lesions are the consequence of ischemic necrosis and foetal hydrocephalus. The risk of such lesions is highest during the second trimester of pregnancy. The preventive steps against congenital toxoplasmosis are recalled.
A medico-legal autopsy case of hydranencephaly in a male infant which was first suspected of maternal infanticide is reported. The infant was 48 cm in height, weighed 2.86 kg and the circumference of the head, the chest and the abdomen was 32.2 cm, 31.0 cm and 30.4 cm, respectively, with no deformities of the head or body. Autopsy examination, however, revealed a severe defect in the central nervous system. The cranial cavity was filled with a cloudy dark red fluid (ca. 310 ml) instead of the cerebral hemispheres. The residual central nervous tissues were mostly subtentorial structures from the midbrain to the spinal cord namely, corpus mamillare, corpora quadrigemina, corpus pineale, crus cerebri, pons, cerebellum, medulla oblongata and spinal cord. The basal ganglia, thalamus, hypothalamus and chiasma opticum could not be found, although atrophic hypophysis, eyeballs and optic nerves were present. The usual distribution of cerebral blood vessels, especially the branches of the anterior and middle cerebral arteries and Willis' ring, was absent despite the presence of the internal and external carotid arteries. Other organs were, in general, congestive. The marked cortical atrophy of the adrenal glands (left 0.5 g, right 0.6 g), especially the zona fasciculata, was characteristic. The hydrostatic lung test gave partially positive results, but this was considered to be due to artificial respiration by an ambulance man because amniotic fluid components were microscopically noted and fully expanded alveoli were not found. In conclusion, the cause of the infant's death was diagnosed as stillbirth due to aspiration of amniotic fluid caused by the severe defect of vegetative hypothalamic function through hydranencephaly.
Infants with hydranencephaly are presumed to have a reduced life expectancy, with a survival of several weeks to months. Rarely, patients with prolonged survival have been reported, but these infants may have had other neurologic conditions that mimicked hydranencephaly, such as massive hydrocephalus or holoprosencephaly. We report two infants with prenatally acquired hydranencephaly who survived for 66 and 24 months. We reviewed published reports to ascertain the clinical and laboratory features associated with survival of more than 6 months. This review demonstrates that prolonged survival up to 19 years can occur with hydranencephaly, even without rostral brain regions, with isoelectric electroencephalograms, and with absent-evoked potentials. Finally, the ethical aspects of these findings, as they relate to anencephaly and organ transplantation, are discussed.
Fetal hydranencephaly is a rare congenital cerebral abnormality characterized by complete or near complete absence of the cerebral cortex. We present the sonographic evolution of a case of fetal hydranencephaly from 11 weeks of gestation to term. At 11 weeks, the fetal head appeared small and the forehead was sloping. The normal cerebral hemispheres could not be identified. Follow-up sonography showed that the cerebral hemispheres were almost entirely replaced by fluid, except in the occipital region. The baby died 2 weeks after birth. Post-mortem examination confirmed the diagnosis of hydranencephaly.
We report a newborn girl with hydranencephaly. In the setting of a monochorionic twin pregnancy, one twin's demise was detected by ultrasonography at 18 weeks of gestation, apparently the result of a twin-twin transfusion. In the surviving twin, the evolution of ventriculomegaly, first noted at 18 weeks, to hydranencephaly at 27 weeks is documented by serial sonograms. These findings were confirmed with fetal and postnatal magnetic resonance imaging.
Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent. The outlook for children with hydranencephaly is generally poor, and many children with this disorder die during infancy. Although rare, patients with prolonged survival have been reported. A 22-year-old female patient was admitted to our hospital in a bedridden state for management of bedsores. The initial brain computed tomography showed complete replacement of the cerebral hemispheres with fluid and no cortical plate or hemispheric white matter. The bilateral brain stem, some of the left cerebellum, and the inferior frontal lobe were spared. Although certain behaviors were observed, such as eye opening in response to sound and painful stimuli, examination identified neither a definite awareness of the environment nor a meaningful action. To our knowledge, this is the longest survival of a patient with hydranencephaly in the world.