Slit ventricle syndrome

patients improved their headaches and impulsive behaviour. 3 Likewise, in our current case, the patient showed significantly improved gross motor, speech and language development after cranial expansion surgery. Cranial vault reconstruction should be considered to facilitate and improve the outcome of WS with craniosynostosis.Genetically, around 28 genes on the Williams-Beuren syndrome region (OMIM 194050) in chromosome 7q11.23 have been missing. 10 The most common gene contributing to WS cardiovascular pathology is known to be the elastin (ELN) gene. 4 Regarding neurocranial abnormalities, the general transcription factor II I repeat domain-containing 1 (GTF2IRD1) gene, playing a role as a transcription factor, has been implicated in the craniofacial features of WS. 10,11 The GTF2IRD1 has been reported to be linked with the suppression of RUNX2, one of the most common factors in cranial suture closure, especially in parietal bone integration. 12 For our case, the targeted gene analysis did not test in GTF2IRD1. Thus, it could not explain this current index's causative link to craniosynostosis. Still, it is so essential that further genetic-related phenotypic studies should be organised to better understand the linkage of genotype and phenotype in WS. CONCLUSIONSSurgical release of the abnormally fused cranial suture is advocated in WS children with low anaesthetic risks. We recommend screening CT and magnetic resonance imaging studies to evaluate both parenchymal and calvarial abnormalities in WS. Multidisciplinary team care is mandated in WS management.

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“…The pathogenesis 4 of SVS is complex, the most significant is that excessive drainage alters ventricular compliance (Fig. 2).…”

Section: Discussionmentioning

confidence: 99%

Slit Ventricle Syndrome

Yan

Zheng

Tao

et al. 2023

Journal of Craniofacial Surgery

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“…This treatment, however, may result in overdrainage of CSF caused by excessive shunting leading to intracranial hypotension and symptoms that include headache, nausea, dizziness, and seizures. [ 14 ] Rates of shunt overdrainage have varied widely from 1% to over 50% of shunted patients. Usage of low-pressure opening valves has been shown to predispose patients to overdrainage.…”

Section: Discussionunclassified

A case of hydrocephalus confounded by suprasellar arachnoid cyst and concomitant reversible cerebral vasoconstriction syndrome

Ahmad

Zampolin

Brook

et al. 2022

Surgical Neurology International

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Background: Obstructive hydrocephalus is a neurologic condition that has varied clinical and imaging presentations, as well as a multitude of congenital etiologies including aqueductal stenosis and less commonly arachnoid cysts. Aqueductal stenosis is a physical limitation to cerebrospinal fluid flow along the course of the aqueduct, which results in enlargement of the third and lateral ventricles. Arachnoid cysts are thin walled and fluid filled central nervous system lesions that can result in mass effect on adjacent structures. While arachnoid cysts are mostly asymptomatic, they may present with neurological symptoms that vary depending on the location of the lesion. Suprasellar cysts in particular may cause obstructive hydrocephalus as well as endocrine dysfunction. Reversible cerebral vasoconstriction syndrome (RCVS) is an unusual condition caused by cerebral arterial vasoconstriction that often presents initially with a thunderclap headache. Frequently, there is some environmental trigger associated with this condition. RCVS more commonly affects women and can induce stroke. Case Description: A 57-year-old female presented to the emergency department with progressive headache and visual changes. Initial workup suggested the patient’s symptoms where related to RCVS but subsequent surgical management of what was presumed to be long standing, compensated hydrocephalus resulted in resolution of the patient’s symptoms. Conclusion: We report, to the best of our knowledge, the first case of aquedutal stenosis and suprasellar arachnoid cyst with concomitant RCVS. The presence of multiple pathologies found on radiologic imaging illustrates the challenges presented by incidental findings and subsequent anchoring bias in medical diagnosis.

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“…1 This symptomatic ventricular collapse may present with recurrent headaches, neuropsychiatric disturbances, reduced cognition, visual disturbances, and rarely sudden death due to hypothalamic dysfunction. 1,2 The treatment choice varies from shunt ligation/exteriorization, increasing the opening pressure of the shunt valve, adding an antisiphon device, and subtemporal decompression. 1,2 ETV, a most physiological treatment, is effective in approximately 83% of cases.…”

mentioning

confidence: 99%

“…It often requires neuronavigation assistance. 1,2 Microscopic subfrontal lamina terminalis fenestration has been proven effective in managing SVS. 4,5 We have recently introduced a similar endoscopic extra-axial alternative to conventional ETV for managing hydrocephalus.…”

mentioning

confidence: 99%

“…1,2 The treatment choice varies from shunt ligation/exteriorization, increasing the opening pressure of the shunt valve, adding an antisiphon device, and subtemporal decompression. 1,2 ETV, a most physiological treatment, is effective in approximately 83% of cases. 2,3 A slit-like ventricle has insufficient room to house and negotiate an endoscope and is an anatomic constraint for the conventional ETV.…”

mentioning

confidence: 99%

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