Persisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?

Persisting embryonal infundibular recess (PEIR) is a very rare anomaly of the floor of the third ventricle in which the embryonic morphology of the infundibular recess (IR) persists. The exact underlying mechanism of development of PEIR is unknown, and the anomaly has been reported as an isolated finding or in association with other conditions. On the other hand, trans-sphenoidal encephaloceles are the rarest form of basal encephaloceles. The trans-sphenoidal trans-sellar encephalocele (TSE) is the least common variant in which the pituitary gland, pituitary stalk, optic pathways, parts of the third ventricle and IR may be present within the encephalocele. We recently treated one patient with TSE. Based on the observed morphological similarity of the IR in our patient and in the published cases of PEIR, we reviewed the literature in order to validate the hypothesis that PEIR and TSE may possibly belong to one spectrum of malformations. Across the published reports, the morphology of the IR in TSE is very closely similar to PEIR. Moreover, radiological, patho-anatomical, and embryological evidence is in support to our hypothesis that PEIR and TSE are most likely the two extremes of the same continuum of malformations.

Endoscopic Laser Fenestration to Treat a Bobble-Head Doll Syndrome Caused by Suprasellar Cyst.

The bobble-head doll syndrome (BHDS) is a rare acquired head movement disorder characterized by up and down or side-to-side movement, most commonly seen in the first decade of life. The syndrome occurs more often in lesions causing third ventricle dilatation such as suprasellar or third ventricle cyst, but it is also found in other pathologies associated with hydrocephalus like shunt dysfunctions, trapped fourth ventricle, congenital aqueductal stenosis, Dandy-Walker syndrome, and cerebellar malformations. The pathophysiology of this head movement has different origins theories; one states that this stereotyped movements empties the cyst and move the dome away from the foramina of Monro, which relieves the symptoms of hydrocephalus; the other suggests that the extrapyramidal tracts (rubrotegmentospinal and reticulospinal) are stimulated by the compression of dorsomedial nucleus of the thalamus by the cyst, whose tracts innervate the neck muscles resulting in the bobbling head movements. This video (Video 1) presents a clinical case of BHDS caused by suprasellar cyst in a 10- year-old boy treated by endoscopic procedure. A ventricular-cyst-cisternostomy was performed resulting in complete improvement of the head movements and uneventful recovery. Postoperative images demonstrate decreasing of the cyst lesion and resolution of the hydrocephalus.

The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review.

BACKGROUND: May-Hegglin anomaly is an autosomal dominant inherited condition, characterized by thrombocytopenia, giant platelets and Dohle-like bodies. Incidence is unknown and affected individuals can show from mild to moderate-severe haemorrhagic symptoms. The cyst of cavum veli interpositi (a virtual space filled with fluid within the third ventricle) is rarely reported in the foetal period. Furthermore, it is unclear whether isolated cavum veli interpositi cysts are a normal variant or developmental malformations. The simultaneous presence of these two anomalies was never described. CASE PRESENTATION: We describe a very rare case of a twin monochorionic pregnancy in a woman with the May-Hegglin anomaly, whose foetuses carried cavum veli interpositi cysts. Since childhood, our patient had shown macro-thrombocytopenia, deafness and bleeding (epistaxis and menorrhagia), but she was misdiagnosed until the age of 30 years when our Centre identified a de novo allelic variant in the gene MYH9 coding for the non-muscle myosin heavy chain IIa. Our patient bled neither during the pregnancy, nor in the peripartum period. Children are now eight-months-old and have never bled, although both inherited the MYH9 variant and have thrombocytopenia with giant platelets. Furthermore, none of them developed psychomotor disorders. CONCLUSIONS: To the best of our knowledge, this is the sixth case of twin pregnancy in a woman carrying May-Hegglin anomaly and the first one with cavum veli interpositi cysts in the neonates. We speculate that MYH9 could have, at least in part, played a role in the development of both conditions, as this gene has a pleiotropic effect.

Suprasellar Cyst Presenting With Bobble-Head Doll Syndrome.

BACKGROUND: Bobble-head doll syndrome is a rare neurological syndrome presenting with repetitive anteroposterior head movements. It is usually associated with expansile cystic lesions in the third ventricular region. CASE DESCRIPTION: An 8-year-old boy presented with involuntary bobbling head movements. Magnetic resonance imaging of the brain revealed an extensive suprasellar cyst resulting in obstructive hydrocephalus. Endoscopic ventriculo-cysto-cisternostomy resulted in improved clinical outcome. CONCLUSIONS: Endoscopic ventriculo-cysto-cisternostomy is an effective, less-invasive technique in the treatment of suprasellar cysts that results in resolution of the bobbling head movements.

The role of third ventricle bowing in the success of endoscopic third ventriculostomy in pediatric and adult patients.

OBJECTIVE: Preoperative third ventricle deformation (known as 'bowing') is associated with higher endoscopic third ventriculostomy (ETV) success. In children, the effect of bowing has not to date been systematically studied. Aim of of this study is to determine the effect of bowing on ETV success in adult and child patients. PATIENTS AND METHODS: In this retrospective, monocentric study were included 135 (70 adults and 65 children) of 157 patients who underwent ETV between 2008-2016, with mean follow-up 4.3 years. Presence and extent of bowing and its impact on ETV outcome were evaluated. Third ventricular anatomy was assessed on pre- and postoperative MR imaging. RESULTS: In patients > 6 months old, the ETV success rate was 91% in bowing-positive cases and 47.6% in bowing-negative cases. Among patients < 6 months old, ETV was successful in 37% of those with bowing and 36.4% of those without. Presence of bowing strongly indicates ETV success in patients older than 6 months (p < 0.000 5), including children of 7 months and older (p 0.001). This relationship was not confirmed in pediatric patients up to 6 months old (p 1.000). The extent of bowing does not influence ETV success (p 0.559). Bowing correction strongly correlates with ETV success (p < 0.000 5). CONCLUSION: We confirmed significant correlation between bowing and ETV success in patients over 6 months old. This relationship was not determined in those younger than 6 months and therefore we do not recommend bowing in ETV indication criteria for this patient cohort.

Persisting Embryonal Infundibular Recess in Morning Glory Syndrome: Clinical Report of a Novel Association.

Morning glory syndrome is characterized by a congenital optic disc defect that resembles the eponymous flower. We present the MR imaging findings of 2 pediatric patients with morning glory disc anomaly and persisting embryonal infundibular recess, another rare malformative finding, a previously unreported association. Neuroradiologists should be aware of the possible presence of a persisting embryonal infundibular recess in patients with morning glory syndrome, to aid in the differential diagnosis including other pituitary malformations such as pituitary stalk duplication.

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.

Migration of Oxidized Cellulose to the Ventricle as a Complication of Endoscopic Third Ventriculostomy: A Case Report

Endoscopic third ventriculostomy (ETV) is an increasingly common neurosurgical procedure. Hemostatic agentes (porcine gelatin and oxidized cellulose) are normally placed to plug the cortical hole after ETV to avoid cerebral spinal fluid leakage, subdural hygroma, and hemorrhage. Here we report the case of a 6-year-old boy with hydrocephalus who underwent ETV and which oxidized cellulose was placed to plug the cortical hole.Magnetic resonance imaging of the head performed 3 months after the procedure showed the presence of oxidized cellulose in the ventricle. After an unsuccessful attempt to remove the cellulose, it was decided that the patient should be kept under observation. Twoyears later, the child is in good health and without any complaints. Hemostatic agents (especially oxidized cellulose) used on the cortical hole after ETV can migrate to the ventricle and compromise the procedure. Follow-up should be performedfor such patients, and the main focus should be on not causing further injury.

Persisting Embryonal Infundibular Recess: Case Report and Imaging Findings.

BACKGROUND: Persisting embryonal infundibular recess (PEIR) is a rare anomaly of the third ventricular floor, with only 10 cases having been reported to date. Accurate imaging diagnosis of this entity is essential to avoid unnecessary surgery and its associated morbidity. The following case is presented to emphasize its recognition in the differential diagnosis of pituitary cystic lesions. CASE DESCRIPTION: A 38-year-old woman was referred for evaluation of a pituitary cystic mass. Magnetic resonance imaging (MRI) revealed a 10.2-mm cystic mass in an enlarged sella turcica. Three-dimensional high-resolution MRI using constructive interference in steady-state sequence clearly delineated a communicating tract between the third ventricle and the sellar cyst through pituitary stalk. A final diagnosis of PEIR was made. The patient was managed successfully with conservative treatment, and the lesion was in a stationary condition over a 5-year follow-up period. CONCLUSIONS: This is the first case report demonstrating imaging features of PEIR in 3-dimensional high-resolution MRI. Although PEIR is a rare anomaly, imaging diagnosis of this entity is important because confusion with other pituitary cystic lesions and the attempt of surgical removal may lead to serious complications.

Bobble-head doll syndrome: report of 2 cases and a review of the literature, with video documentation of the clinical phenomenon.

Bobble-head doll syndrome (BHDS) is a rare pediatric movement disorder presenting with involuntary 2- to 3-Hz head movements. Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, hyperreflexia, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others. The syndrome is associated with suprasellar cysts, third ventricular cysts, or aqueductal obstruction, along with a few other less common conditions. The cause of involuntary head motions is not understood. Treatment is surgical. The authors present 2 cases of BHDS. The first is a 14-year-old boy with BHDS associated with aqueductal obstruction and triventricular hydrocephalus secondary to a tectal tumor. He was successfully treated by endoscopic third ventriculostomy, and all symptoms resolved immediately in the recovery room. This case is unusual in its late age of symptom onset, the primacy of lateral ("no-no") involuntary head rotations, and the associated tectal tumor. The second case is a 7.5-year-old girl with BHDS associated with a suprasellar cyst. She was successfully treated with an endoscopic fenestration but preexisting endocrinopathy persisted, and the patient was diagnosed with autism spectrum disorder at age 12 years. This second case is more typical of BHDS. A comprehensive and up-to-date review of the literature of BHDS and video documentation of the phenomenon are presented.

Bobble-head doll syndrome in an 80-year-old man, associated with a giant arachnoid cyst of the lamina quadrigemina, treated with endoscopic ventriculocystocisternotomy and cystoperitoneal shunt.

Bobble-head doll syndrome (BHDS) is a rare entity, characterized by antero-posterior head bobbing, which is of the type "yes-yes." Less frequently, having a head movement of the type "no-no" is described. We report an unusual case of an 80-year-old man with a cystic mass of the lamina quadrigemina, extending to the posterior fossa. We conclude that ventriculocystocisternotomy associated with a cystoperitoneal shunt is an effective treatment for a symptomatic giant arachnoid cyst in the lamina quadrigemina.

Third Ventricle Floor Variations and Abnormalities in Myelomeningocele-Associated Hydrocephalus: Our Experience with 455 Endoscopic Third Ventriculostomy Procedures.

AIM: To evaluate the incidence of anatomical variations and abnormalities of the third ventricle floor encountered during the endoscopic third ventriculostomy (ETV) procedure in myelomeningocele-associated hydrocephalus (MAH) cases. MATERIAL AND METHODS: A retrospective analysis was performed on 455 pediatric MAH cases that had been treated with ETV. This case series consisted of the patients who were initially treated with ETV and also those who were treated with ETV for the management of cerebrospinal fluid shunt dysfunction. Variations and anomalies of the third ventricle floor were determined by reviewing the video records of the ETV procedures. RESULTS: The analysis of the data revealed that the rate of the MAH cases with variations and abnormalities of the third ventricle floor was 41.1%. The most common anatomical features were "thick and prominent massa intermedia" (37.1%) and "narrow tuber cinereum" (33.1%). CONCLUSION: This study documents the most common anatomical variations and abnormalities of the third ventricle floor in cases with MAH. Various anatomical situations and specific ventricular configuration of MAH cases may add an operative factor of difficulty which should be well recognized by the neurosurgeon who plans and executes an ETV procedure in this patient population.

Anatomic Variations of the Floor of the Third Ventricle: An Endoscopic Study.

OBJECTIVE: Anatomical variations of the floor of the third ventricle are common in hydrocephalic patients and can significantly affect outcomes of endoscopic third ventriculostomy (ETV). We sought to categorize variations in third ventricle anatomy and to discuss the implications of these variations for ETV. METHODS: Intraoperative videos and pictures of 50 patients who underwent ETV between April 2001 and August 2010 were reviewed. Twenty-seven patients with clearly demonstrable third ventricular floors that satisfied our criteria were selected for the study. RESULTS: Images of variations were organized into the following categories: 1) thinned floor, 2) thickened floor, 3) partially effaced floor, 4) ballooning/herniating floor, 5) small prepontine interval, 6) narrowed third ventricle, and 7) other significant anomalies. CONCLUSIONS: The third ventricle is a common site for anatomical variations in hydrocephalic patients. A good knowledge of these variations is essential before performing ETV, because they have the potential to increase operative risk.

Optimized surgical approach to third ventricular choroid plexus papillomas of young children based on anatomical variations.

BACKGROUND: Choroid plexus papilloma (CPP) in the third ventricle is a rare benign intracranial tumor. METHODS: We report 3 pediatric cases of CPP in the third ventricle. The lesions were totally removed by a different surgical approach in each case. RESULTS: When remarkable hydrocephalus is present, the transcortical approach is easier to perform, but may expose the patient to epilepsy and subdural effusion postoperatively. The transcallosal approach offers direct exposure of the ventricle system with minimal risk of cortical damage. The transcallosal-transforaminal approach with posterior enlargement of the foramen of Monro along the choroidal fissure provides a direct trajectory into the third ventricle through the natural cleft. The transcallosal-interforniceal approach does not depend on the size of the foramen of Monro, but it carries a risk for damage to the both fornices. The midline plane of the septum pellucidum and the forniceal columns in children are sometimes easily identifiable and separable, and in such cases the transcallosal-interforniceal approach appears to be a safe route for tumors extending to the posterior third ventricle. The interforniceal approach should be reserved for lesions that cannot be removed safely via the transforaminal approach. CONCLUSIONS: Young children have a small total blood volume and fragile cardiovascular status. Therefore, it is critical to preserve the venous system and to ligate the feeding artery before extirpation of the tumor. The surgical approach to the third ventricular CPPs should be tailored to individual children based on tumor size, location, and vascularity.

"No-no" type bobble-head doll syndrome in an infant with an arachnoid cyst of the posterior fossa: a case report.

BACKGROUND: Bobble-head doll syndrome is a rare and surgically treatable movement disorder characterized by up-and-down (yes-yes) head bobbing occurring at a rate of 2-3 Hz. Side-to-side (no-no) head bobbing is less frequently described. Bobble-head doll syndrome is usually associated with dilation of the third ventricle, but is rarely associated with posterior fossa disease. PATIENT: We describe an infant with fetal hydrocephalus and an arachnoid cyst of the posterior fossa. Endoscopic fenestration of the arachnoid cyst was performed on postnatal day 12. A routine examination at 4 months indicated the infant showed "no-no" type head bobbing, but no other neurological disorder was observed. The third ventricle was dilated during the perioperative period, but not at 2-4 months. In contrast, cerebellar compression decreased gradually and persisted at 4 months. CONCLUSION: Although few patients with bobble-head doll syndrome do not have third ventricle dilation, these patients typically show cerebellar dysfunction. Our findings support the hypothesis that cerebellar dysfunction is present in bobble-head doll syndrome when third ventricle dilation is absent.