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PubMed2002

Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.

We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of hydranencephaly.

Arthrogryposis↗

PubMed2006

Multiple thromboembolic events in fetofetal transfusion syndrome in triplets contributing to the understanding of pathogenesis of hydranencephaly in combination with polymicrogyria.

Over the last 180 years, several theories concerning the origin of hydranencephaly have been proposed with an emphasis on infectious, aplastic, and vascular etiologies. In this report, we present a case of triplets with fetofetal transfusion syndrome of which 2 fetuses (1 and 2) developed almost similar hydranencephaly, whereas the third exhibited the features of a fetus papyraceus (3). In the monochorial triamniotic placenta, multiple arteriovenous anastomoses were detected, representing a probable route for the transmission of thrombi originating from fetus 3 causing visceral lesions in fetus 2. Hydranencephaly was histologically characterized by necrosis, macrophage invasion, and endothelial proliferation. In addition, polymicrogyria was seen in fetuses 1 and 2. The combination of multiple visceral thromboembolic events and the death of fetus 3 approximately in the 11th week of gestation suggested a vascular thrombotic pathogenesis of hydranencephaly. Polymicrogyria can be considered as postmigratory laminar necrosis. Our findings contribute to the pathogenetic understanding of combined hydranencephaly and polymicrogyria.

Abnormalities, Multiple↗

PubMed2002

Choroid plexectomy reduces neurosurgical intervention in patients with hydranencephaly.

INTRODUCTION: The removal of the choroid plexus from the lateral ventricles was attempted by Dandy in the early 20th century but later discarded as complications arose and other methods of cerebrospinal fluid (CSF) diversion were introduced. We compare our experience with a variation of this operation to CSF diversion in patients with hydranencephaly or near hydranencephaly. METHODS: The hospital and office charts of patients with a diagnosis of hydranencephaly were reviewed from the two institutions spanning the career of the senior author. Thirteen patients were identified, of whom 9 underwent CSF diversionary procedures (group A) and 4 underwent choroid plexectomy (group B). RESULTS: The mean number of reoperations (2 in group A, 0 in group B), neurosurgical readmissions (1.5 in group A, 0 in group B) and days of hospitalization related to neurosurgical readmissions (43.5 in group A, 0 in group B) were all less in patients who underwent choroid plexectomy. The total incidence of complications related to surgery was also lower in this group (7 in group A, 0 in group B). CONCLUSION: In our experience, choroid plexectomy in patients with hydranencephaly reduces the incidence of reoperation and readmission, the number of days of hospitalization related to the surgical procedure and the total number of complications in comparison to patients undergoing CSF diversion. Further neurosurgical intervention is minimized as is the financial burden from multiple emergency department visits and radiological procedures for shunt evaluation. Choroid plexectomy is a viable alternative to CSF diversion in patients with hydranencephaly and a rapidly enlarging head. It avoids the chronic issues and complications surrounding CSF diversion in this difficult group of patients.

Choroid Plexus↗

PubMed1989

Hydranencephaly and maximal hydrocephalus: usefulness of electrophysiological studies for their differentiation.

The EEG was evaluated in three cases of hydranencephaly and two cases of maximal hydrocephalus, and the visual evoked potential was studied in one case each of hydranencephaly and maximal hydrocephalus. The EEG tracing of hydranencephaly typically showed a flat pattern in most bipolar derivations because of the differential amplification of the same activity from remote generators. However, the EEG of maximal hydrocephalus did not demonstrate a flat pattern in bipolar as well as referential derivation, and the activities were different from various electrodes in referential derivation. The visual evoked potential of maximal hydrocephalus showed a normal pattern, while that of hydranencephaly showed no response. Electrophysiological examinations (such as EEG and visual evoked potential) are useful for differentiation of hydranencephaly and maximal hydrocephalus in cases whose computed tomographic scans do not provide clear differentiation.

Anencephaly↗

PubMed2000

Hydranencephaly in Malawian children.

OBJECTIVE: To show that not all big heads in children are due to hydrocephalus. SETTING: The Queen Elizabeth Central Hospital (QECH), Blantyre, the teaching hospital of Malawi College of Medicine. It is the biggest and leading hospital in Malawi and the major referral centre for the whole country. DESIGN: A prospective study was made of all children who presented at QECH, Blantyre with the diagnosis of hydrocephalus during the study period. SUBJECTS: Fifteen cases of hydranencephaly were encountered. INTERVENTION: All cases of abnormally large heads were investigated with cranial ultrasonography, a few children had air ventriculography and CT scan of the brain. All patients had ventricular aspiration of cerebral spinal fluid (CSF) to verify the colour and condition of the fluid before performing ventriculo-peritoneal shunting for which our locally made Malawi unishunt was used. RESULTS: In hydranencephaly, the brain was found replaced by large fluid-filled cavity in contrast to hydrocephalus where brain was present and ventricular dilatation was encountered. Ventriculo-peritoneal shunting benefited children with hydrocephalus but not those with hydranencephaly. CONCLUSION: Hydranencephaly is one of the causes of abnormal head enlargement in children often confused with hydrocephalus. It is important to recognise hydranencephaly to avoid unnecessary operation which does not help the patient.

Diagnosis, Differential↗

PubMed2001

Hydranencephaly in an infant with vascular malformations.

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.

Blood Vessels↗

PubMed1990

The use of two-dimensional Doppler sonography (color Doppler) in the diagnosis of hydranencephaly.

Hydranencephaly, first described by Cruveilhier, may be defined as a rare condition in which the cerebral hemispheres are replaced by membranous sacs filled with cerebrospinal fluid. Cerebral angiography is especially useful in differentiating hydranencephaly and severe hydrocephalus, massive subdural hygromas and alobar holoprosencephaly, but it is no better than other neuroradiological diagnosis methods in the neonate. This report outlines the diagnostic use of two-dimensional Doppler (color Doppler) in a child with hydranencephaly. Color Doppler was performed using an SSA-270A (Toshiba) with a 3.75 MHz phase-array sector scanning probe and no sedation. In this study, color Doppler demonstrated the internal carotid artery in the proximal portion, but the secondary and tertiary branches were not observed. In summary, color Doppler permitted early, easy diagnosis of hydranencephaly. In addition, the use of color Doppler was beneficial in diagnosing other anomalies of the central nervous system in neonates.

Blood Flow Velocity↗

PubMed2000

Prolonged survival with hydranencephaly: report of two patients and literature review.

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.

Brain↗

PubMed2002

First-trimester features of Fowler syndrome (hydrocephaly-hydranencephaly proliferative vasculopathy).

We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly-hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly-hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly-hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly-hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. Genetic counseling is recommended.

Adult↗

PubMed1995

The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation.

This is the fourth report of Fowler-type hydranencephaly, or proliferative vasculopathy and hydranencephaly-hydrocephaly (PVHH), and is both the first case in Europe and the first case reported in an Asian family. A 17-week fetus showed severe arthrogryposis, pterygia and muscular hypoplasia. Massive cystic dilatation of the cerebral ventricles with thin disorganized pallium was associated with calcifications and characteristic glomeruloid vasculopathy throughout the CNS. Hydranencephaly in a previous pregnancy was demonstrated ultrasonographically at 13 weeks gestation. The glomeruloid vasculopathy, unique to this disorder, has ill-defined vascular channels, prominent reticulin network and inclusion-bearing cells which our immunocytological and ultrastructural studies suggest are endothelial cells. Aetiopathogenesis remains uncertain; previous hypothesis include congenital infection or primary neuro-ectodermal failure. Our present clinical and morphological findings suggest a primary role for the glomeruloid vasculopathy at the time of vascular invasion of the cerebral mantle during the first trimester. Previous and present case data support autosomal recessive inheritance, in contradistinction to sporadic, encephaloclastic, hydranencephaly from which PVHH can be readily differentiated by microscopic examination.

Adult↗

PubMed2004

Hydranencephaly with extensive periventricular necrosis and numerous ectopic glioneuronal nests.

The case reported here relates to a male infant with hydranencephaly who was born at 37 weeks of gestation and died immediately after birth. Post-mortem examination revealed that the cerebral hemispheres had been replaced by fluid-filled cavities within a normal-sized cranium. The membranous hemispheric wall was composed of gliosed tissue with multiple foci of necrosis and hemosiderin-laden macrophages. The ependyma was absent. Many necrotic foci containing hemosiderin were also found around the aqueduct and fourth ventricle. These findings suggest that hemorrhagic necrosis had occurred throughout the periventricular region, and more severely in the cerebral hemispheres. Moreover, numerous glioneuronal nests were found throughout the subarachnoid space and ventricles. Glioneuronal nests, if present, are usually minimal in hydranencephaly, whereas it is one of the pathological features of multicystic encephalopathy. The transition of multicystic encephalopathy to hydranencephaly has been demonstrated repeatedly. The former is a condition resulting from a severe circulatory disturbance, most often at the end of gestation or in the perinatal period. These lesions date later than hydranencephaly. Considering that numerous glioneuronal nests were found in the present case, it is likely that the encephaloclastic process developed toward the end of gestation.

Adult↗

PubMed1993

Primary congenital rhabdoid tumor of the brain with neoplastic hydranencephaly.

A child with shunted hydranencephaly and presumed ventriculitis was found to have a primary congenital rhabdoid tumor (RT) of the brain. The child died and a complete autopsy was carried out. The cerebral hemispheres were replaced by a single thin-walled cavity studed with tumor nodules and filled with thick, viscous fluid. The posterior fossa and visceral organs were free of tumor. This case is unique because the rhabdoid tumor was primary to the brain, it was congenital, and it massively replaced the cerebral hemispheres, causing hydranencephaly. Only three other cases of primary RT of the brain with complete autopsy examination have been reported. Cases of congenital rhabdoid tumors are not known in the literature. Hydranencephaly with a highly proteinaceous fluid should alert the physician to the possibility of a neoplasm. When the fluid in presumed ventriculitis is sterile, cerebral biopsy should be considered.

Biomarkers, Tumor↗

PubMed1977

[Hydranencephaly versus spelencephaly--a report of two cases (author's transl)].

Two cases are presented, one of hydranencephaly and one of spelencephaly. Spelencephaly represents an intermediate form between multicystic encephalopathy and hydranencephaly and is characterized by preservation of the ventricular walls. There is no clinical distinction between spelencephaly and hydranencephaly. Diagnosis can be made by pneumencephalography, as described in this paper, if the gas is applied via both lumbar and ventricular puncture. Autopsy findings of both cases are presented and the possible vascular etiology of the condition is discussed.

Anencephaly↗

PubMed2005

Maternal systemic lupus erythematosus and hydranencephaly in a neonate: a case report.

Hydranencephaly is characterized by absent cerebral hemispheres replaced by fluid-filled sacs in a normal skull. Herein we report the case of a premature neonate with hydranencephaly born to a mother with systemic lupus erythematosus. Although numerous etiologies have been proposed, an association between maternal systemic lupus erythematosus and neonatal hydranencephaly has not previously been reported.

Female↗

PubMed2005

Ultrasound and MRI appearance and evolution of hydranencephaly in utero: a case report.

BACKGROUND: Hydranencephaly is the total or near-total destruction of the cerebral cortex and basal ganglia. The thalami and lower brain centers are typically preserved. This condition is usually preceded by occlusion of the internal carotid arteries, resulting in massive brain infarction. CASE: An 18-year-old woman, gravida 1, presented with a 1-day history of heavy vaginal bleeding at 23 weeks' gestation. Initial ultrasound revealed oligohydramnios and retroplacental lucency consistent with placental abruption. A follow-up level II ultrasound revealed abnormal intracerebral architecture. Subsequent ultrasounds and magnetic resonance imaging (MRI) revealed an evolving case of hydranencephaly. Postdelivery computed tomography verified the prenatal findings. CONCLUSION: Ultrasound and MRI are useful radiologic studies to confirm the diagnosis of hydranencephaly.

Adolescent↗

PubMed1990

An outbreak of congenital hydranencephaly and cerebellar hypoplasia among calves in South Kyushu, Japan: a pathological study.

An outbreak of congenital hydranencephaly and cerebellar hypoplasia occurred between November 1985 and May 1986 in Miyazaki, South Kyushu, Japan. Seventy-three calves had nervous signs of varying severity such as inability to stand, locomotor difficulties, defective vision and difficulty in sucking. At necropsy, 62 calves had macroscopic lesions in the central nervous system: hydranencephaly accompanied by cerebellar hypoplasia in 47; hydranencephaly alone in eight; and dilatation of the lateral ventricle in seven; none had arthrogryposis. Microscopically, all 62 cases involved various degrees of hypoplasia of neural components, such as total or partial thinning of the cerebral or cerebellar laminae. Heterotopia, such as abnormal islands of granule cells or Purkinje cells was also observed. Fourteen of these animals had other lesions such as non-purulent encephalitis, focal gliosis, neuronal degeneration, calcification or pseudocalcification, and cholesterol deposits, activation of vascular endothelial cells and haemorrhage. From the findings, these cases were considered to represent mainly hypoplasia of nerve tissue due to infection with a virus different from Akabane virus.

Animals↗

PubMed2000

Serial sonographic features of a fetus with hydranencephaly from 11 weeks to term.

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.

Adult↗

PubMed1993

Suspected maternal infanticide in a case of hydranencephaly.

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.

Brain↗