Ventriculoperitoneal Shunt Alone for Spontaneous Cerebrospinal Fluid Rhinorrhea as a Presenting Symptom of Hemi-hydranencephaly.

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.

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.

Glioblastoma in hemihydranencephaly: preoperative and postoperative language ability of the right hemisphere.

We present the first case report describing a craniotomy for a glioblastoma in a patient with hemihydranencephaly (HHE). Ten years ago our patient had average cognitive and language functions, indicating very good adaption of his single right hemisphere. Due to the tumour he developed a deceleration, deficits in language functions and mild impairments of basic cognitive functions. Further neuroplastic reorganisations of his right hemisphere in response to the tumour growth are discussed. The favourable postoperative outcome supported the decision for careful tumour resection in this patient with HHE.

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.

Migración intracraneal de derivativa ventrículoperitoneal en paciente con hidranencefalia: reporte de un caso / Intracraneal migration of ventriculoperitoneal shunt in a patient with hydranecephaly: case report

La migración intracraneal de una derivativa ventrículo peritoneal (DVP) es una rara causa de disfunción valvular. Se presenta el caso de un paciente portador de hidranencefalia congénita con DVP desde el mes de vida, quien fue referido a neurocirugía a la edad de dos años y un mes por somnolencia, vómitos y bradicardia. El estudio con TC de encéfalo y radiografía de trayecto valvular revelaron migración intracraneal de su sistema derivativo, por lo que requirió cirugía de urgencia para retiro del sistema y reemplazo valvular. Inmediatamente posterior a la cirugía el paciente tuvo remisión completa de sus síntomas. A continuación se discuten los posibles mecanismos involucrados en su génesis y las medidas para evitar esta complicación

Intracranial migration of ventriculoperitoneal shunt is an extremely rare complication of hydrocephalus surgery. We present the case of a patient with congenital hydranencephaly treated with ventriculoperitoneal shunt installed elsewhere in the first month of life. He was referred to our center when he was 2 years old. The consulting symptoms were somnolency, vomiting and bradycardia. The image study consisted in a brain CT and chest x-ray that revealed the intracranial migration of his ventriculoperitoneal shunt. The patient was operated with the remotion of his shunting system and a complete new ventriculoperitoneal shunt was installed. Inmediately after surgery the patient had a complete remission of his symptoms. We reviewed the case due to the unusual of the complication and we discussed the possible mechanisms involved in its genesis and the measures to avoid it.

Idiopathic hypereosinophilia syndrome with loeffler endocarditis, embolic cerebral infarction, and left hydranencephaly: a case report.

PURPOSE: Idiopathic hypereosinophilia syndrome (iHES) is classically defined as prolonged peripheral eosinophilia and multiple organ involvement. The involvement of the heart can lead to intraventricular thrombus because of infiltration of the endomyocardium by eosinophils. Cerebral infarction has been ascribed to thromboembolic events originating from intraventricular thrombus. CASE REPORT: A 67 year-old woman with hypereosinophilia for 6 months presented acute weakness of the right limbs. Left hydranencephaly and absence of the left internal carotid artery were found on brain computed tomography. Brain magnetic resonance imaging (MRI) showed multiple infarctions at bilateral hemispheres. An intraventricular thrombus was detected both in transesophageal echocardiography and in heart MRI. Hypereosinophilia responded well to steroid use and warfarin was used for stroke prevention. CONCLUSIONS: Complete evaluation of systemic involvement in iHES is mandatory and early intervention may prevent deterioration of this disease. Both cardiogenic embolism and endothelial damage related to circulating eosinophils may contribute to the occurrence of stroke in this patient.

Hydranencephaly with renal dysgenesis: a coincidental finding? Case report with review of the literature.

We present the case of a female fetus aborted in the 20th week of gestation due to severely dysplastic kidneys, anhydramnios and hydranencephalus. The combination of these malformations is extremely rare, resulting in only 4 cases described so far. Our case is the first ever presented in a female showing polycystic-dysplastic kidneys. Multiple multinucleated neurons were a remarkable finding in the remnants of the brain. The possibility of an underlying genetic disorder is discussed, together with a brief review of the literature to date.

[Endocrinological analysis of chronic hypernatremia in two cases of hydranencephaly].

We reported two infants with hydranencephaly and chronic hypernatremia. Their plasma sodium concentration gradually increased during the first week and remained between 150-160 mEq/L thereafter. They showed no signs of thirst. A water deprivation test demonstrated low urine osmolality and low plasma ADH concentration despite markedly elevated plasma osmolality in both cases. Urine was significantly concentrated when vasopressin was given. Thus, it was concluded that both thirst mechanism and ADH secretion were disturbed in these two cases. ADH producing cells, the thirst center and the osmoreceptor are all located in the hypothalamus. Radiographic measures showed dysplasia of the hypothalamus, providing the anatomical basis for their dysfunction.

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.

Hypoplasia of the optic nerve.

Premorbid ophthalmoscopic and histopathologic findings were correlated in a case of bilateral optic nerve hypoplasia in a 9-month-old infant with bilateral hydranencephaly. The double-ring sign was due to an extension of retina and retinal pigment epithelium (RPE) over the outer portion of the lamina cribrosa. The outer ring was the junction between sclera and lamina cribrosa, and the inner ring was the termination of the RPE. The center of the inner ring was the hypoplastic nerve head, which appeared whitish because of fibroglial tissue surrounding the central retinal vessels where they entered the optic nerve head. We speculate that an in utero vascular insult, after the third month of development, led to cystic cavitation of the anterior cerebral hemispheres, with subsequent retrograde degeneration of developing retinal ganglion cells.

Follow-up comparison of hydrocephalus with and without myelomeningocele.

A series of 454 hydrocephalic patients with and without myelomeningocele and with and without treatment is reviewed. The survival rates for hydrocephalus alone and for hydrocephalus with myelodysplasia are comparable. The authors reach the conclusion that treatment of the hycrocephalic process and its complications is the most critical therapeutic consideration. Mental retardation is the major unalterable cause for failure to develop independence; some lesser emotional causes can be modified by encouragement. Repeated reassessment of the patient's condition and adjustment are important. Before treatment is started parents or guardians should be fully informed of the child's future potential for independent life and mental development.