congenital hydrocephalus

A term neonate with history of ventriculomegaly in the fetal period was diagnosed with a central nervous system tumour after radiological investigations. It was confirmed as an immature teratoma after histopathological examination. He underwent left frontal craniotomy with tumour excision. Intraoperatively, massive haemorrhage (venous bleed) occurred due to the high vascularity of the tumour and led to haemodynamic instability. A massive transfusion protocol was initiated. Despite multiple transfusions and shock management, he succumbed at 2 weeks of life...

OBJECTIVE: Although hydrocephalus rates have decreased with intrauterine surgery for myelomeningocele (MMC), 40%-85% of children with MMC still go on to develop hydrocephalus. Prenatal ventricle size is known to be associated with later development of hydrocephalus; however, it is not known how prediction measures or timing of hydrocephalus treatment differ between pre- and postnatal surgery for MMC. The goal of this study was to determine anatomical, clinical, and radiological characteristics that are associated with the need for and timing of hydrocephalus treatment in patients with MMC...

OBJECTIVE: The need for permanent CSF diversion is lower in patients who have undergone prenatal surgery for myelomeningocele (MMC) than in those who have undergone postnatal closure. Differences in brain development and head growth between treatment groups are not known, particularly for those who do not require surgical treatment for hydrocephalus. The objective of this study was to determine differences in head growth and to generate MMC-specific head circumference (HC) growth curves for patients who underwent either prenatal or postnatal surgery...

INTRODUCTION: Dysgenesis of the corpus callosum is present in neurodevelopmental disorders and coexists with hydrocephalus in several human congenital syndromes. The mechanisms that underlie the etiology of congenital hydrocephalus and agenesis of the corpus callosum when they coappear during neurodevelopment persist unclear. In this work, the mechanistic relationship between both disorders is investigated in the hyh mouse model for congenital hydrocephalus, which also develops agenesis of the corpus callosum...

OBJECTIVE: Congenital toxoplasmosis (CT) can have severe early and late sequelae in children. In this study, we aimed to evaluate the demographic, clinical, treatment characteristics of patients diagnosed with congenital Toxoplasma infection and to highlight the long-term complications of the patients. METHODS: Patients with CT were included in this study who were followed between 2010 and 2022 in Cukurova University Medical Faculty Hospital. Demographic, clinical and treatment characteristics were searched retrospectively...

BACKGROUND: Myelomeningocele (MMC) is the most serious form of spina bifida, a congenital defect in neural tube development. Defect closure in a patient with an extremely low birth weight presents unique challenges and risks; lower birth weight is associated with multiple organ system concerns, homeostasis is difficult, and local tissue is underdeveloped. To the authors' knowledge, the present case is the lowest reported weight (490 g) for a neonate with postnatal MMC repair. OBSERVATIONS: A preterm male with a prenatally diagnosed lumbosacral MMC and associated Chiari malformation type II was born at 23 weeks 1 day to a 29-year-old mother, gravidity 6 parity 4...

OBJECTIVE: Craniopharyngioma (CP) is an intracranial congenital epithelial tumor that can occur at any age. CP tumors are histologically benign (WHO grade I), and childhood‑onset CP (CO-CP) patients have a high rate of survival. The major concern for CO-CP patients is delayed diagnosis. Delayed diagnosis can further lead to serious adverse consequences such as acute and chronic complications, thereby endangering the life of the patient.We evaluated the early-stage clinical characteristics of CO-CP patients to provide clues for making rapid and accurate diagnoses...

Infant-type hemispheric glioma (IHG) is a rare pediatric brain tumor with variable response to chemotherapy and radiotherapy. Molecular insights into IHG can be useful in identifying potentially active targeted therapy. A male fetus was found to have congenital hydrocephalus at the gestational age of 37 weeks. Fetal MRI showed a 2.6 × 2.0-cm tumor located at the frontal horn of the left lateral ventricle, involving the left basal nuclei and thalamus. Tumor biopsy at the age of 2 days revealed an IHG consisting of spindle tumor cells with strong expression of GFAP and ALK...

BACKGROUND: Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling. CASE PRESENTATION: A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS)...

Herein, we described the case of a newborn male, from consanguineous parents, who developed, at day 11 of life, an obstructive hydrocephalus resulting from bilateral cerebellar hemorrhage without evident cause. Then, at 1 month, he developed a fulminant hepatitis with hyperammonia, hyperlactatemia and metabolic acidosis. Infectious and first line metabolic explorations were normal. Screening for congenital disorder of glycosylation (CDG) was performed using capillary electrophoresis and western blot of serum transferrin...

The pediatric age group with massive hydrocephalus posted for ventriculoperitoneal (VP) shunt presents a lot of confrontation to anesthesiologists due to macrocephalus and associated congenital anomalies. Here, we presented a case report with massive hydrocephalus with aqueduct stenosis, posted for VP shunt placement, and retained a difficult airway.

Ventriculoperitoneal (VP) shunts are catheters inserted to drain excess cerebrospinal fluid (CSF) when there is an obstruction in the normal outflow or a decreased absorption of the fluid leading to hydrocephalus. Recognised complications of placement of the distal catheter are malposition, obstruction, pseudocysts and infection. Here, we present a case of a 23-year-old female with acute pancreatitis following the placement of a VP shunt in the lesser sac. The patient originally had a VP shunt placed in infancy for congenital hydrocephalus with one revision at four years old...

Japanese guidelines for idiopathic normal pressure hydrocephalus (iNPH) (iNPHGL) are the first and only guidelines in the world that were revised following subsequent developments in iNPH research. We first discuss the virtuous cycle in which the development and revision of the iNPHGL and how the implementation of two consecutive multicenter prospective studies conducted in Japan, SINPHONIs, have worked together to advance iNPH practices. Subsequently, we explained the most characteristic features of the iNPHGL, such as "Positioning of iNPH," "Diagnostic Criteria," and "Algorithms for Diagnosis and Treatment...

INTRODUCTION: Open spina bifida (OSB) is the most common congenital anomaly of the central nervous system. It is associated with severe neurodevelopmental delay, motor impairment, hydrocephalus, and bowel and bladder dysfunction. In selected cases, intrauterine spina bifida repair has been shown to improve neonatal outcomes. Rarely, the spine can have a double defect compromising two different segments and there is a lack of evidence on the feasibility and benefits of intrauterine repair in these cases...

The brain's ventricles are filled with a colorless fluid known as cerebrospinal fluid (CSF). When there is an excessive accumulation of CSF in the ventricles, it can result in high intracranial pressure, ventricular enlargement, and compression of the surrounding brain tissue, leading to potential damage. This condition is referred to as hydrocephalus. Hydrocephalus is classified into two categories: congenital and acquired. Congenital hydrocephalus (CH) poses significant challenges for affected children and their families, particularly in resource-poor countries...

A 29-year-old female, with giant congenital melanocytic naevi (GCMN) presented with a-year history of symptoms and signs of intracranial hypertension. Investigations revealed raised cerebrospinal fluid (CSF) pressure and severe hypoglycorrhachia (low CSF glucose) without pleocytosis. Initial contrast-enhanced brain MRI was normal, but a repeat MRI after a year showed meningeal enhancement with mild communicating hydrocephalus. The raised intracranial pressure was treated with a lumbar-peritoneal shunt. Intraoperative CSF cytology revealed an abundance of squamous epithelia and degenerative cells, but no malignant cells...

Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. We recruited twelve individuals from eleven families with a clinical diagnosis of CMD with brain malformations that fell into two groups: seven patients with suspected dystroglycanopathy and five patients with suspected merosin-deficient CMD...

The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures...

Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal proliferation of leptomeningeal melanocytes. Early acquisition of post-zygotic somatic mutations has been postulated to underlie the pathogenesis of NCM. The pathogenesis of NCM remains to be fully elucidated, and treatment options have not been established. Here, we report for the first time, multiregional genomic analyses in a 3-year-old autopsied girl with leptomeningeal melanomatosis associated with NCM, in which a ventriculo-peritoneal (VP) shunt was inserted for the treatment of hydrocephalus...

BACKGROUND: One of the most feared complications of hydrocephalus is shunt migration. Although rare, bowel migration is the most commonly encountered type of migration. The relatively high frequency of this occurrence allowed us to gather a substantial number of reports for study. OBJECTIVES: The aim of this study was to better understand this complication and aid in decreasing its incidence. METHODS: The PubMed and Scopus databases were searched for cases of anal shunt migration...