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.

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.

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.

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.

Bobble-head doll syndrome: therapeutic outcome and long-term follow-up in four children.

Bobble-head doll syndrome (BHDS) is a complex syndrome with the dominant symptom of repetitive anteroposterior head movement. Only 57 patients are quoted in the literature. The etiology of this syndrome remains unknown and no standard treatment has yet been established. We hereby report four cases treated at our department. All the patients presented a psychomotor retardation due to an obstructive hydrocephalus. All the patients were treated using neuroendoscopic techniques: two with ventriculocystostomy, and two with ventriculocystocisternostomy. Cyst decompression was achieved in all four cases and clinical recovery was evident in three of the four patients observed. After surgery, BHDS persisted longer the more the subsequent treatment was delayed. In this article, we provide a concise overview of the theories of pathogenesis, presentation, and management of this syndrome. Based on our own experience, we state that the method of choice should be the neuroendoscopy and this must be performed promptly after diagnosis is made.

Masses and malformations of the third ventricle: normal anatomic relationships and differential diagnoses.

The third ventricle lies in the center of the brain. It is surrounded by critical nuclear structures (the hypothalamus and thalami) and important glandular structures (the pituitary and pineal glands). Although a wide array of pathologic processes may involve the third ventricle, most are extrinsic masses. By understanding the anatomic boundaries of the third ventricle and its relationship to adjacent structures, it is possible to create short lists of differential diagnoses. Third ventricle masses can be classified as arising in or immediately adjacent to one of five locations: anterior, posterior, inferior, foramen of Monro, and intraventricular. Anterior masses involve the optic and infundibular recesses, posterior masses affect or arise in the posterior commissure and pineal gland, and inferior masses involve or affect the ventricle floor. Masses may also arise at or adjacent to the foramen of Monro or entirely within the third ventricle. Of the intraventricular masses, chordoid glioma-a rare low-grade primary neoplasm-is unique to the third ventricle. Congenital malformations of the third ventricle are uncommon and are most often noted during childhood. Most commonly, these anomalies represent malformations of the neurohypophysis, which may manifest as hormonal abnormalities, or stenosis of the aqueduct of Sylvius, which manifests as dilatation of the third and lateral ventricles (hydrocephalus).

Prognostic factors of operated Rathke's cleft cysts with special reference to re-accumulation and recommended surgical strategy.

BACKGROUND: Rathke's cleft cyst is known as an indolent disease, but has become intractable in a few cases. In this clinical investigation, the initial operative outcomes of Rathke's cleft cyst and the mechanism of re-accumulation were investigated to identify the optimum surgical strategy for the second operation. METHODS: We conducted a retrospective review of 155 patients with Rathke's cleft cyst (58 males and 97 females, aged from 13 to 84 years) surgically treated between April 1996 and March 2010. The same initial operative strategy was adopted in all patients. Operative outcomes and prognostic factors were investigated. FINDINGS: Re-accumulation occurred in 27 patients (17.4%), and re-operation was required in eight patients because of neurological deficits (5.2%). Three types of re-accumulating mechanism were identified. First, cysts with cerebrospinal fluid (CSF)-like intensity on magnetic resonance imaging had a higher risk of re-accumulation (logrank test, p < 0.001). The cyst wall should be extensively removed in the suprasellar cistern to allow communication between the cyst and CSF spaces at the second operation. Second, cysts with epithelial transition had a significant higher risk of re-accumulation compared to other types of epithelium (logrank test, p < 0.001). Aggressive removal and irradiation should be performed at the second treatment. Third, classic Rathke's cleft cyst was found in the majority of cases. No change in operative strategy is required at the second treatment with lower risk of intractability. CONCLUSIONS: Enlargement of Rathke's cleft cyst requiring re-treatment needs selection of surgical strategy according to the individual re-accumulation mechanism.

Phase-contrast MRI and 3D-CISS versus contrast-enhanced MR cisternography for the detection of spontaneous third ventriculostomy.

PURPOSE: To compare the diagnostic efficacies of phase-contrast MRI (PC-MRI) and three-dimensional constructive interference in steady-state (3D-CISS) sequence for the detection of spontaneous third ventriculostomy (STV) on the basis of contrast-enhanced MR cisternography (MRC). PATIENTS AND METHODS: Eleven obstructive hydrocephalus patients with clinically-radiologically suspected STV and ten controls were examined by PC-MRI, 3D-CISS and MRC. PC-MRI and 3D-CISS sequence were applied to view the third ventricle and basal cisterns. Following injection of 0.5-1ml intrathecal Gd-DTPA injection, postcontrast MRC images were obtained in three planes. Presence of STV was scored as follows: grade 0, no existence of STV; grade 1, STV present. Results of PC-MRI and 3D-CISS were compared with the MRC findings. RESULTS: In PC-MRI, five patients were assessed as grade 0 and six cases grade 1. As a result of 3D-CISS sequence, eight cases were evaluated as grade 0 and three cases grade 1. Based on MRC, nine cases were assessed as grade 0 and two cases grade 1. False positivity was found in four cases by PC-MRI and in one case by 3D-CISS. The sensitivity, specificity and accuracy of PC-MRI and 3D-CISS sequence regarding demonstration of STV, were 100, 100, 56, 89, 64, and 91% respectively. DISCUSSION: PC-MRI and 3D-CISS are helpful in confirming the STV. PC-MRI and 3D-CISS should be the first preference. If PC-MRI and 3D-CISS give negative results, then MRC is not required. MRC should be performed on patients who demonstrate suspected STV findings on PC-MRI and 3D-CISS sequences. MRC may prevent false positive results.

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.

Colloid cyst of the third cerebral ventricle with an embryological remnant consistent with paraphysis cerebri in an adult human.

The histogenesis of colloid cysts of the third ventricle remains unsettled. Initial theories favored a neuroepithelial (paraphysis, ependyma, choroid plexus) origin and some investigators based on morphologic analysis have offered an alternative endodermal source. We report a case of colloid cyst of the third ventricle arising in association with a remnant which we believe corresponds to the paraphysis cerebri in man.

The clinical spectrum of Blake's pouch cyst: report of six illustrative cases.

INTRODUCTION: Although Blake's pouch cyst (BPC) is frequently mentioned in the spectrum of posterior fossa cysts and cystlike malformations since its first description in 1996, its natural history, clinical presentation, specific imaging characteristics, optimal treatment, and outcome are relatively unknown. Consequently, BPC may still be underdiagnosed. We therefore report six cases ranging from a fatal hydrocephalus in a young boy, over an increasing head circumference with or without impaired neurological development in two infants, to a decompensating hydrocephalus at an advanced age. DISCUSSION: We focus on their radiological uniformity, which should help making the correct diagnosis, and widely variable clinical presentation, which includes adult cases as well. Differentiating BPC from other posterior fossa cysts and cystlike malformations and recognizing the accompanying hydrocephalus are essentially noncommunicating, not only have important implications on clinical management but also on genetic counseling, which is unnecessary in case of BPC. In our experience, endoscopic third ventriculostomy is a safe and effective treatment option, avoiding the risks and added morbidity of open surgery, as well as many shunt-related problems.

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.

Persisting embryonal infundibular recess.

Persisting embryonal infundibular recess (PEIR) is a rare anomaly of the third ventricular floor that has an unclear pathogenesis. In all 7 previously described cases, PEIR was present in adult patients and was invariably associated with hydrocephalus and, in 4 reported cases, with an empty sella. These associated findings led to speculations about the role of increased intraventricular pressure in the development of PEIR. In the present case, PEIR was found in a 24-year-old man without the presence of hydrocephalus or empty sella. Disorders of pituitary function had been present since childhood. Magnetic resonance imaging revealed a cystic expansion in an enlarged sella turcica. A communication between the third ventricle and the sellar cyst was suspected but not apparent. During transcranial surgery, the connection was confirmed. Later, higher-quality MR imaging investigations clearly showed a communication between the third ventricle and the sellar cyst through a channel in the tubular pituitary stalk. This observation and knowledge about the embryology of this region suggests that PEIR may be a developmental anomaly caused by failure of obliteration of the distal part of primary embryonal diencephalic evagination. Thus, PEIR is an extension of the third ventricular cavity into the sella. Although PEIR is a rare anomaly, it is important to identify when planning a procedure on cystic lesions of the sella. Because attempts at removal using the transsphenoidal approach would lead to a communication between the third ventricle and the nasal cavity, a watertight reconstruction of the sellar floor is necessary.

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.