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Hydranencephaly: Cerebral spinal fluid instead of cerebral mantles

Authors:
Piero Pavone at University of Catania
Piero Pavone
Andrea Domenico Praticò at University of Catania
Andrea Domenico Praticò
Giovanna Vitaliti at University of Catania
Giovanna Vitaliti
Martino Ruggieri at University of Catania
Martino Ruggieri
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The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months. Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.
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... Hydranencephaly is a rare malformation of the central nervous system [3]. It represents 1% of diagnosed hydrocephalus [4]. Its incidence would be between 1/10,000 and 1/5000 of pregnancies [4] [5] [6]. ...
... It represents 1% of diagnosed hydrocephalus [4]. Its incidence would be between 1/10,000 and 1/5000 of pregnancies [4] [5] [6]. In the USA the incidence would be 1.4 to 2.8 per 100,000 births [7]. ...
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... is characterized by the liquefaction of the majority of the supratentorial brain, while preserving the thalami, falx, and posterior fossa [21][22][23]. Typically, the injury conforms to the territories supplied by the anterior and middle cerebral arteries, suggesting a vascular etiology in most patients. ...
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Fetal brain development is a complex, rapid, and multi-dimensional process that can be documented with MRI. In the second and third trimesters, there are predictable developmental changes that must be recognized and differentiated from disease. This review delves into the key biological processes that drive fetal brain development, highlights normal developmental anatomy, and provides a framework to identify pathology. We will summarize the development of the cerebral hemispheres, sulci and gyri, extra-axial and ventricular cerebrospinal fluid, and corpus callosum and illustrate the most common abnormal findings in the clinical setting. Graphical abstract
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  • Feb 2024
  • Ann Afr Med
The pediatric age group with massive hydrocephalus posted for ventriculoperitoneal (VP) shunt presents a lot of confrontation to anesthesiologists due to macrocephalus and associated congenital anomalies. Here, we presented a case report with massive hydrocephalus with aqueduct stenosis, posted for VP shunt placement, and retained a difficult airway.
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Anomalies of Midbrain/Hindbrain Development and Related Disabilities: Pontocerebellar Hypoplasia, Congenital Disorders of Glycosylation, and Cerebellar Hemisphere Hypoplasia
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  • May 2024
Recent progress in developmental biology, molecular genetics, and neuroimaging has enabled a more profound comprehension of developmental disorders affecting the embryonic midbrain and hindbrain, which manifest clinically. The purpose of this review is to describe anomalies of the midbrain/hindbrain such as pontocerebellar hypoplasia (PCH), congenital disorders of glycosylation (CDG), cerebellar hemisphere hypoplasia. PCH is a group of disorders that is both clinically and genetically diverse. These disorders are identified by the hypoplasia and degeneration of the cerebellum and ventral pons. A total of 18 distinct clinical subtypes of PCH, each linked to pathogenic variants in 19 different genes, have been documented, like mutations in TSEN54 (coding a subunit of tRNA splicing endonucleases complex) and TBC1D23 which display moderate-to-severe intellectual disability (ID) and microcephaly. CDG represent a set of inherited conditions marked by impaired glycosylation of proteins and lipids. The most prevalent subtype among CDG is PMM2-CDG, inherited in a recessive manner, causing reduced activity of phosphomannomutase. Its phenotype varies from mild to severe, involving the central nervous system and affecting many other organs as well. Patients who are severely affected also exhibit visceral symptoms alongside severe ID and other neurological manifestations. Cerebellar hypoplasia (CH) is characterized by a cerebellum of diminished volume while maintaining its shape. CH exhibits a diverse range of neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental involvement. Cerebello–oculo–facio–genital syndrome is linked to a recessive MAB21L1 mutation. Jubert's syndrome, associated with a rare autosomal recessive mutation, is identified on magnetic resonance imaging by cerebellar worm hypoplasia and midbrain malformations. The rhombencephalosynapsis, characterized by vermian agenesis or hypogenesis with the fusion of the cerebellar hemispheres, emerges during embryogenesis. It can manifest alone or in conjunction with other and/or extracerebral abnormalities.
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Updated EUROCAT guidelines for classification of cases with congenital anomalies
Article
  • Feb 2024
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Hydranencephaly Associated with Bilateral Megalocornea and Bilateral Cleft Lip in an Infant of Mother with Gestational Diabetes Mellitus
Article
  • Feb 2024
Background Hydranencephaly is a rare congenital disorder of the central nervous system, in which the cerebrum is replaced by a membranous sac of cerebrospinal fluid. Clinical Description A 2-month-old baby girl presented with abnormal body movements. She was born to a mother with gestational diabetes and had been diagnosed with hydrocephalus antenatally. The baby had features of facial dysmorphism such as bilateral megalocornea, bilateral cleft lip, and cleft palate. A magnetic resonance imaging (MRI) brain revealed the absence of cerebral hemispheres with remnants of parenchyma in the orbitofrontal area that had been replaced by cerebrospinal fluid, diagnostic of hydranencephaly. Karyotyping and echocardiography findings were normal. Management and Outcome The prognosis was explained to parents, who opted for no therapeutic intervention. The thus patient kept on supportive care and she succumbed at the age of 6 months. Conclusion Our case creates awareness regarding a possible association between gestational diabetes and hydranencephaly. Furthermore, the hydranencephaly in this case was unique due to its association with bilateral megalocornea and cleft lip. The case reiterates the fact that a hydrocephalus diagnosed antenatally may actually be a hydranencephaly, which is confirmed in MRI brain imaging postnatally.
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Are postnatal traumatic events an underestimated cause of porencephalic lesions in dogs and cats?
Article
Full-text available
  • Dec 2023
Introduction Porencephaly is defined as a fluid-filled cavity of variable size in the brain cortex. It is regarded as a congenital condition and is typically considered a developmental or an encephaloclastic defect. Our hypothesis is that postnatal traumatic events in the first few months of life may represent a cause of canine and feline porencephaly that is more common than generally suspected. The aims of this study were to retrospectively investigate porencephaly in a large population of dogs and cats, detect MRI features that might be useful to differentiate postnatal acquired traumatic forms from congenital/perinatal porencephaly, and define the prevalence of seizure activity in porencephalic patients. Materials and methods This is a double-center, descriptive, retrospective case series. Databases were searched for cases within a 17-year time span that involve dogs and cats with an MRI-based diagnosis of cerebral cavitary lesions. Animals were included if a complete signalment and an exhaustive MRI of the brain were available. Besides the porencephalic lesions, MRIs of the head were reviewed to detect concomitant musculoskeletal abnormalities. Results Thirty-two cases involving nine cats and twenty-three dogs were selected. Of all the cases, 21.9% were aged six years or older at the time of diagnosis. All patients in which the neuroanatomical localization was available showed clinical signs of a prosencephalic disorder. Epileptic seizures were observed in 71.8% of cases. A single porencephalic cavity was found in 78.1% of cases. The most affected cerebral lobe was the parietal lobe (n = 20). The defects involved both the grey and white matter in 78.1% of cases. Twenty cases showed concomitant musculoskeletal abnormalities overlying the porencephalic cavities. Fourteen of twenty cases showed evidence of fractures, of which thirteen showed depression of the calvarium and twelve masticatory muscle abnormalities. Of these, seven of fourteen had a history consistent with a head trauma in the first period of life. Conclusion The recognition of skull fractures and muscular abnormalities closely associated with the porencephalic cavity may support a diagnosis of a postnatal traumatic origin of porencephaly. Therefore, this study highlights the importance of evaluating musculoskeletal structures in the MRIs of the heads of porencephalic cases.
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Ventriculoperitoneal Shunt Alone for Spontaneous Cerebrospinal Fluid Rhinorrhea as a Presenting Symptom of Hemi-hydranencephaly
Article
  • Nov 2023
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A 27-year-old female patient presented with chronic spontaneous cerebrospinal fluid (CSF) rhinorrhea. She had deformity and weakness on the left side since childhood. Imaging examinations demonstrated hemi-hydranencephaly with a nearly complete absence of the right cerebral hemisphere, which was replaced with a membranous sac filled with CSF. She was accompanied with a frontal midline tumor containing lipids. After ventriculoperitoneal shunt, the CSF rhinorrhea completely ceased and no direct repair of the CSF fistula was necessary. The ventriculoperitoneal shunt procedure changes the CSF flow dynamics and releases the intracranial pressure, which may be a simple and effective procedure for CSF rhinorrhea in hemi-hydranencephaly.
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HYDRANENCEPHALY: CLINICAL DIAGNOSIS
Article
  • Sep 1950
DURING the past two years the authors have identified in living infants seven examples of a cerebral anomaly which presents some of the clinical characteristics of hydrocephalus but which consists essentially of serious maldevelopment, or even complete absence, of the cerebral hemispheres, with intact meninges and cranium. The Anomaly The anomaly consists primarily of absence of the cerebral hemispheres within intact meninges and skull, the resulting cavity being filled with cerebrospinal fluid. The fluid circulation may be normal or the outlets of the ventricles may be closed; "hydrocephalus" results in either case. At operation or autopsy the most striking feature noted is absence of the cerebrum, although a few islands or bands of it may persist. The pia-arachnoid usually is intact, although in some cases it also may have broken down. In the authors' surgical cases the transparent membrane was intact and the attenuated major branches of the middle cerebral artery were pulsating vigorously. As the fluid is aspirated, two egg-shaped, white, glistening bodies representing the basal ganglia are seen on the floor of the skull. Different specimens reveal variable amounts of residual cerebral tissue in the periphery of the tremendously expanded and freely communicating lateral ventricles. The anatomic description of these residual masses of nervous tissue as investigated in autopsy specimens (Cases 1, 3, 6 and 7) will be presented elsewhere. Etiology and Terminology: The cause of the condition remains controversial, but since the meninges and cranium are intact, it must be assumed that the anlage of the neopallium was present during the period of formation of these layers. Cruveilhier described the anomaly as hydrocephalic anencephaly ("l'anencéphalie hydrocéphalique") and contrasted it with anencephaly associated with absence of the cranial vault.
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Phlebostasis and phlebothrombosis of the brain in the newborn and in early childhood
Article
  • Jan 1944
  • Arch Neurol Psychiatr
GENERAL CONSIDERATIONS In a discussion of injuries of the brain at birth three factors must be considered: the site of the lesion, its nature and its causes.Site of Injury. —One must consider the site first, for, except for direct lacerations, all these injuries to the brain are localized in certain drainage areas of the venous system. Veins are more easily damaged than arteries, which are well protected where they enter the base of the skull. The base is already stabilized at birth, while the vault is still movable and easily injured.The venous system in question includes various, somewhat independent, vessels. The regions involved in birth trauma are the drainage area of the great vein of Galen (vena cerebri magna) and that of the superior longitudinal sinus. The former vessel drains the blood from the centrum semiovale of the frontal and the anterior part of the parietal lobe via
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Case 7: Hydranencephaly
Article
  • Feb 1999
Hydranencephaly may, on first impression, mimic severe hydrocephalus (dilated lateral ventricles).
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Choroid plexus coagulation in infants with extreme hydrocephalus or hydranencephaly: Clinical article
Article
  • Apr 2014
  • J NEUROSURG-PEDIATR
Unlabelled: OBJECT.: Severe hydrocephalus and hydranencephaly are common congenital conditions in Kenya. In patients with these conditions, ventriculoperitoneal (VP) shunts are associated with appreciable complications and endoscopic third ventriculostomies (ETVs) have limited success. Endoscopic choroid plexus coagulation (CPC) to diminish CSF production is a potential treatment option. The purpose of this study was to evaluate the effect of CPC without ETV in infants with severe hydrocephalus or hydranencephaly. Methods: Medical records of infants with severe congenital hydrocephalus or hydranencephaly who underwent CPC in Kijabe Hospital from November 2010 to April 2013 were reviewed retrospectively. Thirty-three patients with complete medical records and preoperative radiographic images were identified. After CPC, the infants were followed in the Kijabe Hospital outpatient department, in mobile clinics, or by telephone. Success of the CPC was defined as resolution of preoperative symptoms, stabilization of head size, and avoidance of VP shunt placement. Results: Patients were followed from 30 to 608 days (median of 120 days). Three patients were lost to follow-up. Of the 30 evaluable patients, CPC was considered to be successful in 13 (43.3%), including 8 of 20 patients with severe hydrocephalus and 5 of 10 with hydranencephaly. Failure of CPC was evident from increased head circumference in 14 (82%) of 17 patients and from CSF leakage in 3. Of the 17 failures, 13 occurred within 3 months of surgery. Six patients died: 3 whose CPC procedures were failures, 2 whose CPC was successful, and 1 postoperatively. Of the 17 in whom CPC failed, 10 subsequently underwent VP shunt insertion. Conclusions: CPC stabilizes macrocephaly in approximately 40% of infants with severe congenital hydrocephalus and hydranencephaly and can be considered as an alternative to VP shunt placement.
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Looking at the Missing Brain: Hydranencephaly Case Series and Literature Review
Article
  • Feb 2013
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.
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