Study Design: This is a case report of a 37-year-old woman who sought treatment for a large syringomyelic cavitation extending from C3 to the entire medulla, a tetraventricular hydrocephalus, and a cystic cavitation in the posterior cranial fossa communicating with the fourth ventricle (Blake's pouch cyst). The patient underwent a decompressive craniectomy, a C1 laminectomy, and the opening of the cysts to enable communication with the subarachnoid spaces. After an initial period of symptom remission, reassured by the magnetic resonance images indicating a reduction of the syringomyelia, the patient's neurologic conditions deteriorated because of further dilation of the ventricular cavities, which was resolved by the insertion of a ventriculoperitoneal shunt.
Objective: To suggest the treatment of choice in a patient with syringomyelia and hydrocephalus caused by Blake's pouch cyst.
Summary Of Background Data: Blake's pouch cyst is an entity often poorly understood, deriving from nonperforation of the primitive foramen of Magendie, causing a precarious equilibrium of the cerebrospinal fluid flow resulting from a defect in communication between the fourth ventricle and the encephalic and spinal subarachnoid spaces. Authors report the association of Blake's pouch cyst with cervicodorsal syringomyelia and tetraventricular hydrocephalus.
Methods: A case of syringomyelia associated with hydrocephalus and Blake's pouch cyst is described.
Results: Symptoms of syringomyelia and hydrocephalus disappeared only after positioning of a ventriculoperitoneal shunt.
Conclusions: The treatment of choice for a case of syringomyelia associated with Blake's pouch cyst and hydrocephalus is the application of a ventriculoperitoneal shunt or, even better, an endoscopic third ventriculostomy.
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BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFActa Neurochir (Wien)
October 2024
Neurosurgery Unit, Giannina Gaslini Children's Hospital, Genoa, Italy.
Eur J Med Res
July 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, China.
Background: Posterior fossa malformation (PFM) is a relatively uncommon prenatal brain malformation. Genetic diagnostic approaches, including chromosome karyotyping, copy number variant (CNV) testing, and whole-exome sequencing (WES), have been applied in several cases of fetal structural malformations. However, the clinical value of appropriate genetic diagnostic approaches for different types of PFMs has not been confirmed.
View Article and Find Full Text PDFMol Genet Genomic Med
July 2024
Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
Background: Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP) levels, and distinct facial features. This report presents a patient with inherited GPI deficiency caused by a homozygous frameshift variant of PGAP3 due to uniparental isodisomy (UPiD) on chromosome 17.
Method: Clinical characteristics of the patient were collected.
Sci Rep
April 2024
Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
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