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.

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.

Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

PURPOSE: To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections. METHODS: Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion. RESULTS: The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections. CONCLUSIONS: We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.

Early ultrasonographic changes in Fowler syndrome features and review of the literature.

BACKGROUND: Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression of the ultrasonographic features of Fowler syndrome has never been described. METHODS: Case report and review of the literature. RESULTS: A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated. CONCLUSION: The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age.

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.

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.

Ophthalmic findings of hydranencephaly.

Hydranencephaly is a rare developmental disorder in which the cerebral hemispheres are replaced by a cystic space filled with cerebrospinal fluid and covered by intact meninges. Ophthalmic findings include pupillary abnormalities, strabismus, nystagmus, ptosis, optic nerve hypoplasia, chorioretinitis, retinal vessel attenuation, and incomplete anterior chamber cleavage.

Hydranencephaly after maternal butane-gas intoxication during pregnancy.

A newborn infant who suffered intra-uterine anoxia is described, whose mother inhaled butane gas accidentally during the sixth month of pregnancy. The infant was born at 39 weeks. Ultrasonography and neuroradiological studies (CT scan and angiography) showed an almost complete absence of both cerebral hemispheres. The thalamus, brainstem and cerebellum were preserved. These findings were compatible with hydranencephaly. The authors believe that the malformation was due to intra-uterine anoxia occurring during fetal brain-development.

Interhemispheric intradural cyst.

Intracranial intradural cyst represents a rare congenital malformation of the dura. Computed tomography and autopsy findings in a child with a rapid and progressive enlargement of the head indicated the presence of a large interhemispheric cystic mass. A large dural-like interhemispheric cyst was confirmed at autopsy.

[Positive ventriculography and computer assisted tomography of the skull in the evaluation of megalocephaly in newborns and infants (author's transl)]. / Computertomographie und positive Ventrikulographie in der Diagnostik des Makrozephalus bei Neugeborenen und Säuglingen.

To clarify indications and limits of computer assisted tomography and positive ventriculography the results of both methods were compared with each other retrospectively in 55 macrocephalic newborns and infants. It could be shown that positive ventriculography, even if combined with coronal views, was superseded by computer assisted tomography to only a certain extent. To complete the appropriate diagnosis preoperatively positive ventriculography was necessary most often in patients with paranatal disturbances who had undergone intensive care treatment. The non-invasive method of computer assisted tomography often yielded sufficient information on localisation, size, and nature of the underlying pathologic process. Both methods turned out to be complementary when topographical and functional interrelations of cranial cysts had to be demonstrated, especially structures of the midline and of the posterior fossa, which could not be visualized by computer assisted tomography alone.

CT diagnosis of intracranial cystic abnormalities in children.

The introduction of computed axial tomography has been of tremendous importance in the evaluation of intracranial pathology in children. The broad spectrum of cystic intracranial lesions of congenital, infectious, traumatic, vascular and neoplastic origin are discussed. Their CT findings, pathology and pathogenesis are emphasized.

The use of xeroradiography in the investigation of diseases occurring in the central nervous system.

A total of 88 cases of normal and pathological conditions of the skull, brain and spinal cord was studied by skull series, pneumoencephalography, and air myelography. The roentgenographic images of these structures were recorded by conventional roentgenograms, xeroradiograms, and tomogrrams and compared with each other. In general the high resolution and wide recording latitude of xeroradiography produced a more pleasing, sharper image than that obtained by conventional roentgenography. However, the individual tomographic image was superior to xeroradiography.