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Background Hydrocephalus is a neurological disease with higher prevalence in the pediatric population, often managed by placing a shunt. This hollow tube drains excess cerebrospinal fluid from the brain to other body parts, resulting in several complications, including neurological and psychometric manifestations and a compromised quality of life (QoL). This study aimed to evaluate QoL in patients with hydrocephalus shunt placement within the pediatric population. Methods This prospective observational study was conducted in two major Pakistani tertiary care hospitals. A total of 100 subjects were enrolled, of which 52 were found eligible. A validated questionnaire, Hydrocephalus Outcome Questionnaire, was used to evaluate patients' QoL. Results This study included pediatric patients with a mean age of 6.54 years and a standard deviation of ± 2.64. The male-to-female ratio was 27:25; 2% of patients had congenital or tumor-induced hydrocephalus, while cases of meningitis, encephalocele, and encephalitis accounted for 8, 4, and 2%, respectively. Myelomeningocele had the highest prevalence at 16%. The overall health scores range from 0.39 to 0.51. Social, cognitive, and physical health scores have mean values of 0.54, 0.50, and 0.48, respectively. The minimum physical health score is 0.17, indicating the most significant impact of hydrocephalus on physical function. Conclusion This study highlights variations in hydrocephalus severity among pediatric patients, impacting their overall QoL, primarily physical and behavioral functioning. Worse health outcomes were associated with frequent seizures, prolonged hospital stays for diagnosis and treatment, shunt infections, increased number of shunt catheters, and longer travel distances to medical facilities. [ABSTRACT FROM AUTHOR]

Introduction Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them. Methods We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013. Data on clinical and radiological follow-up were collected until June 2017. Results Five children diagnosed with arrested hydrocephalus were included in the study. All patients presented macrocephaly as the main presenting sign. Associated mild-to-moderate stable motor disorders were assessed in four out of five cases. Typical symptoms and signs associated with acute raised intracranial pressure were absent in all patients. Magnetic resonance imaging studies showed ventriculomegaly in all patients. A diagnosis of arrested hydrocephalus was made in all five cases based on stable clinical and radiological findings during the initial observation. Conservative management based on active surveillance was, therefore, proposed. During the followup period, we observed stable or improved conditions in four out of five patients, while the remaining patient presented progressive hydrocephalus. Discussion Making a distinction between arrested and progressive hydrocephalus is fundamental, because of the opposed appropriate management. Any newly discovered case of hydrocephalus, not characterized by clear signs of progressive hydrocephalus, should benefit from active surveillance before any definitive decision is taken. [ABSTRACT FROM AUTHOR]

Objective Our aims were (1) to test whether diffusion tensor imaging (DTI) could detect underlying white matter (WM) changes after a 6-week iPad application-based occupational therapy (OT) intervention in children with surgically treated hydrocephalus (HCP); and (2) to explore the association between WM changes and performance outcomes. Methods Five children (age range: 6.05-9.10 years) with surgically treated HCP completed an intensive iPad-based OT intervention targeting common domains of long-term deficits in children with HCP. The intervention included 6 weekly sessions in an OT clinic supplementing home-based program (1 hour/day, 4 days/week). DTI and neuropsychological assessments were performed before and after the intervention. Observation After the therapy, significant increases in fractional anisotropy (FA) and/ or decreases in radial diffusivity were found in extensive WM areas. All participants demonstrated an increased perceptual reasoning index (PRI, Wechsler Abbreviated Scale of Intelligence: 2nd edition, PRI gains = 14.20 ± 7.56, p = 0.014). A significant positive correlation was found between PRI increase and the increase of FA in the right posterior limb of the internal capsule and the right external capsule (both p < 0.05). Conclusion This study provides initial evidence of DTI's sensitivity to detect subtleWM changes associated with performance improvements in response to a 6-week OT intervention in children with HCP. [ABSTRACT FROM AUTHOR]

Object The development of modern neuroendoscopic technology brought back the use of choroid plexus surgery for the treatment of some patients with hydrocephalus. This study explored the use of endoscopic coagulation of the choroid plexus (ECCP) for the treatment of severely advanced forms of hydrocephalus in three children. Patients and Methods Three children with markedly dilated ventricles underwent ECCP. The first child had fetal hydranencephaly, the second had holoprosencephaly, and the third had severe hydrocephalus associated with other congenital malformations. All three children had had previous ventriculoperitoneal (VP) shunts, and ECCP was done because of shunt malfunction. All three children underwent computed tomography and magnetic resonance imaging to confirm the presence and to measure the size of the choroid plexus before surgery. ECCP was performed through a right frontal burr hole. A rigid neuroendoscope and monopolar coagulator were used to achieve choroid plexus coagulation. Results The first child died 21 days after surgery because of generalized infection originating from the lungs. The second child needed a ventriculoatrial shunt 45 days after ECCP, and the third child needed VP shunt 3 months after ECCP. Conclusions ECCP, although not an alternative to ventricular shunt, is a safe procedure and should be tried in some children with severe advanced, low progressive, and hopeless forms of hydrocephalus. Long-term watchful follow-up is mandatory after surgery. When the risk of complications after VP shunting is relatively high in children with severe forms of hydrocephalus, ECCP seems to be worth trying. Delayed timing of VP shunting after ECCP would be meaningful for children with a high risk of shunt complications. [ABSTRACT FROM AUTHOR]

Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.g., dystonia, apnea) with death often occurring before the age of 10 years. Herein, we present three sisters carrying a previously reported homozygous SURF1 mutation (c.868_869insT) that is predicted to result in a truncated protein with loss of function. Our patients show heterogeneous clinical findings with different distribution patterns of metabolic lesions in brain magnetic resonance imaging (MRI) as well as a Chiari malformation with hydrocephalus in one patient. However, all three siblings show an unusual long survival (12 years and > 16 years). COX activity was not detectable in one patient and strongly reduced in the other two. We discuss these findings with respect to a review of the literature. A total of 15 additional patients with survival > 14 years have been reported so far. Overall, no clear genotype-phenotype correlations are detectable among these patients. [ABSTRACT FROM AUTHOR]

Lower cranial nerve schwannomas are benign tumors of the neurolemmocytes of the cranial nerves. Among children, cranial nerve schwannomas are extremely rare and are predominantly associated with neurofibromatosis (NF) type 2. The purpose of the current case report is to describe a unique giant extra- and intracranial foramen jugular schwannoma in a young boy with lower cranial nerve deficits and glossopharyngeal neuralgia syncope syndrome and to review the pertinent literature. In the current case report, we illustrate the course of disease in a 14-year-old boy with a 4-month history of recurrent syncope and a big bulge on the left side of his neck. Audiometry showed deafness of the left ear. Magnetic resonance imaging (MRI) demonstrated a giant unilateral dumbbell-shaped intra- and extracranial foramen jugular schwannoma with a volume of 156 cm³ causing severe brain stem compression and obstructive hydrocephalus. The tumor was removed completely in a two-step surgery. The tumor was confirmed during surgery to originate from the glossopharyngeal nerve. The histological examination revealed the characteristic features of a schwannoma. The MRI 3 months after the second surgery confirmed complete tumor removal. The genetic examination for NF was negative. Review of literature showed that dumbbell-shaped lower cranial nerve schwannomas in the childhood population are rare. [ABSTRACT FROM AUTHOR]

BACKGROUND: Placing a ventriculo-peritoneal shunt in children with hydrocephalus is the standard of care. Many of these children will require revision of this portion of the shunt for a variety of reasons. Previously, it was thought that in a child with multiple previous ventriculo-peritoneal shunt (VPS) revisions, laparoscopy was contraindicated. This study aims to show that laparoscopy can be used safely and effectively in children with multiple previous ventriculo-peritoneal shunt surgeries. MATERIALS AND METHODS: Laparoscopically assisted placement of the peritoneal portion of the ventriculo-peritoneal shunt in children with multiple previous VPS revisions was performed in 8 consecutive children (4 female) with ages ranging from 7 months to 18 years between May 2003 and September 2007. All eight children had undergone more than two previous VPS operations. All shunts were placed in areas free of adhesions and flow was observed under direct visualization. RESULTS: All of the procedures were successful; none needed conversion to the standard mini-laparotomy approach. No obvious or occult injury to the abdominal components was noted during hospitalization or during follow-up. Six of 8 patients required lysis of adhesions at the time of the revision. Average length of hospital stay was 2.6 days and no revisions of the abdominal portion of the VPS have been required by any of the 8 patients after laparoscopic revision. Previously unknown complications of shunt surgery were corrected in 1 of 8 children. CONCLUSIONS: Laparoscopic placement of the peritoneal portion of a ventriculo-peritoneal shunt can be done safely and effectively in children with multiple previous VPS revisions due to improved visualization and placement of the shunt tip in a virgin area of the abdomen. Additionally, any known or unknown complications from previous VPS surgeries can be corrected with the laparoscopic approach. When combined with the reduction in pain, shorter hospital stay, and fewer immediate and future complications, this is the procedure of choice for patients requiring revision VPS surgeries in our hospital. [ABSTRACT FROM AUTHOR]

Megalencephaly (MEG), or enlargement of the brain, can either represent a familial variant with normal cerebral structure, or a rare brain malformation associated with developmental delay and neurological problems. MEG has been split into two subtypes: anatomical and metabolic. The latter features a build-up inside the cells owing to metabolic causes. Anatomical MEG has been detected in many different conditions, including many overgrowth syndromes. In 2004 Mirzaa et al. reported five non-consanguineous patients with a new MCAJMR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydro-cephalus (HYD). The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004). [ABSTRACT FROM AUTHOR]

This study investigated the characteristics of hearing loss in children with ventriculoperitoneal (VP) shunted hydrocephalus. Twelve hydrocephalic children with patent VP shunts participated. The etiology of the hydrocephalus was either intraventricular hemorrhage or spina bifida. Audiometric examination included pure-tone air conduction thresholds, tympanometry, contralateral and ipsilateral acoustic reflex thresholds (ARTs), and distortion product otoacoustic emissions (DPOAEs). A unilateral, high-frequency, cochlear hearing loss was found in the ear ipsilateral to the shunt placement in 10 (83%) of the 12 shunt-treated hydrocephalic children. No hearing loss was observed in the ear contralateral to shunt placement. Based on the pure-tone audiometric findings, coupled with the decrease in DPOAE amplitude in the shunt ear, the hearing loss appears to be cochlear in nature. We suggest that cochlear hydrodynamics are disrupted as the result of reduced perilymph pressure, a consequence of cerebrospinal fluid (CSF) reduction clue to the combined effects of a patent shunt and a patent cochlear aqueduct. In addition, a concomitant brain stem involvement is evidenced in the ART pattern, possibly produced by the patent shunt draining the CSF from the subdural space, resulting in cranial base hypoplasia. [ABSTRACT FROM AUTHOR]