Ultrasonographic approach and findings in calves with hydranencephaly.

BACKGROUND: Teratogenic viral infections may proceed to hydranencephaly in cattle. Post-mortem and antemortem diagnosis can be achieved by necropsy or ultrasonography, CT-scan and MRI techniques. OBJECTIVES: The aim of this study was to determine how effective ultrasonography approach is in detecting hydranencephaly in calves. METHODS: In this study, ultrasonography images were obtained from brains of nine Holstein claves, of the same age, with neurological signs (due to Akabane virus infection), approaching from the caudal part of the temporal bone. To confirm the obtained images, the same approach was used to obtain images from a normal calf of the same age. The thickness of the temporal bone was measured and compared in seven affected and the healthy calves, using CT-scan images. RESULTS: In ultrasonographic images, temporal bone (as a hyperechoic structure) and temporal cortical mantle (as an echogenic structure) were noted in the right and left side of the skull. The medial part of the image showed presence of fluid in an anechoic region, instead of brain parenchyma. Falx cerebri was also seen as a floating hyperechoic line in the middle part in all patients. There was no statistically significant difference between the thickness of temporal bone in normal and affected calves (p = 0.502). All findings were confirmed by necropsy. CONCLUSIONS: Transtemporal approach is a novel and easy approach to study the brain in calves. This is the first study on the hydranencephalic brains of claves, using ultrasonography by transtemporal approach.

Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.

BACKGROUND: The prenatal diagnosis of microhydranencephaly is important and needs to be distinguished from anencephaly, because unlike anencephaly, fetuses with microhydranencephaly can survive after birth. Herein, we report a case of microhydranencephaly that was diagnosed and distinguished from anencephaly prenatally. CASE PRESENTATION: The patient was an 18-year-old woman, 2 gravida nullipara, who presented at 15 weeks of gestation. Ultrasonography showed a normal biparietal diameter (BPD) and no major anomalies. At 23 weeks of gestation, an ultrasound examination revealed a BPD of 40 mm (-5.3 standard deviation, SD). At 29 weeks, anencephaly was suspected despite difficulty in visually examining the fetal head above the orbit. At 34 weeks, insertion of a metreurynter made it possible to observe the skull. Three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of the fetal skull, a prominent occipital bone, sloping forehead, marked microcephaly, cerebral loss, and excess cerebrospinal fluid. This allowed differentiation between microhydranencephaly and anencephaly. She delivered vaginally at 37 weeks, and the child had a birth weight of 2342 g and a head circumference of 24 cm (-5.4 SD). The baby's head was flat above the forehead, with a suspected partial head defect. The baby received desmopressin acetate due to central diabetes insipidus 6 months after birth. CONCLUSIONS: The use of multiple imaging modalities and physical manipulation of the fetal head are required to accurately differentiate between microhydranencephaly and anencephaly.

Unveiling what is absent within: illustrating anesthetic considerations in a patient with hydranencephaly - a case report.

BACKGROUND: Hydranencephaly is a rare and debilitating congenital condition in which most anesthesiologists are unfamiliar. Primary surgical treatment involves CSF diversion, though other palliative procedures requiring anesthesia are often required. With medical advancements and a resulting prolonged life expectancy, caring for these patients is becoming more routine. CASE PRESENTATION: We follow an infant with hydranencephaly over three different procedures requiring anesthesia from 5 months of age to 2 years, highlighting the various anesthetic considerations. CONCLUSIONS: Anticipation of difficult positioning, deliberate airway management, and attention to anesthetic recovery were all necessary to safely care for this patient. An understanding of the challenges this particular condition poses will help anesthesiologists provide the most safe and effective care when encountering these patients.

The Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly.

After years of the worsening burden of unsafe abortion and attendant morbidities and mortalities in Nigeria, a National Guideline on the Safe termination of pregnancy for legal indications was enunciated. This report presents and discusses an illustrative case of a hydranencephaly that benefited from it. A 43-year old multipara was informed during routine ultrasonography at booking for antenatal care, at 16 weeks of gestation, of a major defect in her baby and advised to meet her physician. Following a repeat high- resolution ultrasonography and discussions between the Obstetricians, Neurosurgeon, and Ultrasonologist, the woman was counseled on the diagnosis. At her insistence and provision of written consent, medical abortion with Mifepristone and Misoprostol was successfully instituted.

Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.

PURPOSE: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established. METHODS: We reported two cases of hydranencephaly complicated by CDI. We also performed a systematic review of the SCOPUS and PubMed databases for case reports and case series of patients with hydranencephaly and CDI, and compiled data on the clinical features and treatment options. RESULTS: Seven cases of hydranencephaly complicated by CDI were identified from the systematic review in addition to the two cases reported here, resulting in a total of nine cases. The patients' age ranged from 4 days to 4 years, and there was a female sex predilection (3.5:1). Patients most commonly presented with macrocephaly, developmental delay, and seizures, with dysmorphic features noted in 33%. In addition to CDI, other endocrinologic derangements included hypothyroidism (22%), hypocortisolemia (22%), and panhypopituitarism (22%). CDI was treated using sublingual or oral desmopressin while hypopituitarism was treated with the appropriate hormone replacement therapy. Insertion of a ventriculoperitoneal (VP) shunt was reported in 44% of cases. CONCLUSION: The case reports and systematic review suggest a previously unknown association between hydranencephaly and CDI. Clinicians managing cases of hydranencephaly are advised to have a high index of suspicion for CDI in patients presenting with the characteristic signs and symptoms.

An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

Bobble-head doll syndrome is a rare movement disorder that is usually associated with lesions involving the third ventricle. It is characterised by stereotypical rhythmic up-and-down or side-to-side head movements. The pathophysiology and anatomical basis for this unusual manifestation is still a subject of intense scrutiny. The syndrome has never been described in a patient with both hydranencephaly and Chiari type 3 malformation. We describe a 2-year-old female patient who presented with congenital hydrocephalus, an occipital encephalocele and rhythmic bobbling of the head. Imaging investigation revealed a Chiari type 3 malformation and hydranencephaly. The patient was taken to theatre for a ventriculoperitoneal shunt insertion, and at day 3 post operatively, the patient had a markedly decreased head circumference and a decrease in the frequency of the bobbling of the head. A further review at 2 weeks showed that the bobbling of the head had ceased. Although the pathophysiology of bobble-head doll syndrome is yet to be fully understood, there has been postulation of either a third ventricular enlargement or a cerebellar dysfunction to explain bobble-head doll syndrome. Our case illustrates that the pathophysiology is most likely multifactorial as illustrated by the fact that by just addressing the high intracranial pressure with a shunt was sufficient to treat the condition.

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex. On prenatal imaging, the presence of significant parenchymal loss in the supratentorial and infratentorial brain is a clue to the diagnosis, which should prompt early genetic testing.

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

OBJECTIVE: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD. CASE REPORT: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus. Level II ultrasound examination at 25 weeks of gestation revealed hydrancephaly, macrocephaly, a cloverleaf skull, frontal bossing, enlarged cerebellum and cisterna magna, a narrow chest, small ribs, short straight limbs. Amniocentesis revealed a karyotype of 46,XX. FGFR3 mutation analysis using the DNA extracted from uncultured amniocytes revealed a genotype of WT/c.1948A>G (p.Lys650Glu). The result was consistent with a K650E mutation in FGFR3 and TD2. The pregnancy was subsequently terminated. CONCLUSION: Fetuses with TD2 may present increased NT, early onset hydrocephalus, enlarged cerebellum and cisterna magna, and hydrancephaly on prenatal ultrasound.

18F-FDG PET/CT in a 16-year-old patient with hydranencephaly.

A 16-year-old male patient with a past medical history of congenital brain malformation presented for surveillance F-FDG PET/CT scan of left parotid acinic cell adenocarcinoma. F-FDG PET/CT revealed absence of gray matter activity in the bilateral cerebral hemispheres most consistent with hydranencephaly. Hydranencephaly is a rare congenital condition characterized by absent cerebral hemispheres replaced by cerebrospinal fluid-filled sacs. The etiology is hypothesized to be secondary to intrauterine bilateral internal carotid artery compromise. Most affected individuals die in utero or within weeks of birth; however, there are rare reported cases of prolonged survival as in our patient.

Looking at the missing brain: hydranencephaly case series and literature review.

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.

Prenatal sonography in hydranencephaly: findings during the early stages of disease.

The purpose of this report is to describe the prenatal sonographic findings in fetuses with hydranencephaly diagnosed during the early stages of disease. Four cases with characteristics of hydranencephaly were retrospectively identified from 2 Latin American fetal medicine referral centers. Information on maternal demographics, sonographic findings, antenatal courses, and pregnancy outcomes was retrieved from the ultrasound reports and medical records. Cases were diagnosed between 21 and 23 weeks' gestation. The sonographic findings were similar in all cases and included absent cerebral hemispheres, which were replaced by homogeneous echogenic material filling the supratentorial space, and preservation of the thalami, brain stem, and cerebellum. The head circumference measurement was within the normal range, but the transverse cerebellar diameter was below the fifth percentile in 3 of the 4 cases. A follow-up scan in 1 of these cases demonstrated the classic anechoic fluid-filled appearance of hydranencephaly 2 weeks after diagnosis. Confirmation of the diagnosis was available in 2 cases, by postmortem examination in 1 and by fetal magnetic resonance imaging in the other. No further investigations were performed in the 2 women who opted for termination of pregnancy. In conclusion, during the early stages of disease, hydranencephaly is characterized by the presence of a large intracranial saclike structure containing homogeneous echogenic material, representing blood and necrotic debris secondary to massive liquefaction of the developing cerebral hemispheres.