Development of shunt valves used for treating hydrocephalus: comparison with endoscopy treatment.

The pathophysiology of hydrocephalus is not clearly defined. Thus, treatment will remain empirical until a fuller understanding of the various forms of hydrocephalus is achieved. Valve-controlled shunting has been the mainstay of therapy since the late 1950s. Initially, shunting occurred from the ventricular system to the atrium. In the 1970s, VA shunts were replaced by ventriculoperitoneal shunts as the primary location for the distal end. Multiple types of one-way valve systems have been developed in the pursuit of draining the appropriate amount of CSF that avoids either overdrainage or underdrainage while preserving normal brain development and cognition. These valves are reviewed and compared as to their function. Other locations for the distal end of the shunting system are reviewed to include pleural space and gallbladder. The lumbar subarachnoid space as the proximal location for a shunt is also reviewed. The only other surgical alternative for treating hydrocephalus is endoscopic third ventriculostomy. Since 2000, approximately 50% of children with hydrocephalus have been shown to be candidates for ETV. The benefits are the lack of need for an artificial shunt system and thus lower rates of infection and over time fewer reoperations. Future progress is dependent on improved shunt valve systems that are affordable worldwide and ready availability of ETV in developing countries. Anatomic and molecular causes of hydrocephalus need to be defined so that medications or genetic modifications become available for potential cure of hydrocephalus.

Evaluating the Role of a Neurosurgery Consultation in Management of Pediatric Isolated Linear Skull Fractures.

BACKGROUND: The purpose of this study was to determine if a pediatric neurosurgical consultation for isolated linear skull fractures (ILSF) in pediatric patients with Glasgow Coma Scale (GCS) scores of ≥14 changed their management. METHODS: A 10-year retrospective chart review at a Level 1 Pediatric Trauma Center was performed. Exclusion criteria were age > 18 years, open, depressed, or skull base fractures, pneumocephalus, poly-trauma, any hemorrhage (intraparenchymal, epidural, subdural, subarachnoid), cervical spine fractures, penetrating head trauma, and initial GCS scores ≤13. Primary outcomes were neurosurgery recommendations to change acuity of care, obtain additional imaging studies, and perform invasive procedures. Secondary outcomes were patient demographics, injury type, transfer status, admitting service, length of hospital stay, consult location, and clinical course. RESULTS: There were 127 cases of ILSF meeting study criteria with an average age of 2.36 years. Unilateral parietal bone fracture was the most common injury (46.5%). Falls were the most common mechanism (81.1%). All patients received pediatric neurosurgical consultations within 24 h of hospital arrival. There were no neurosurgical recommendations to obtain additional imaging studies, change acuity of care, or perform invasive procedures. CONCLUSIONS: Routine neurosurgical consultation in children with ILSF and GCS 14-15 does not appear to alter clinical management.

Spatial regulation of gene expression in nonsyndromic sagittal craniosynostosis.

OBJECTIVECranial suture patterning and development are highly regulated processes that are not entirely understood. While studies have investigated the differential gene expression for different sutures, little is known about gene expression changes during suture fusion. The aim of this study was to examine gene expression in patent, fusing, and fused regions along sagittal suture specimens in nonsyndromic craniosynostosis patients.METHODSSagittal sutures were collected from 7 patients (average age 4.5 months) who underwent minimally invasive craniotomies at the Children's Hospital of Richmond at VCU under IRB approval. The sutures were analyzed using micro-CT to evaluate patency. The areas were classified as open, fusing, or fused and were harvested, and mRNA was isolated. Gene expression for bone-related proteins, osteogenic and angiogenic factors, transforming growth factor-ß (TGF-ß) superfamily, and Wnt signaling was analyzed using quantitative polymerase chain reaction and compared with normal sutures collected from fetal demise tissue (control).RESULTSMicro-CT demonstrated that there are variable areas of closure along the length of the sagittal suture. When comparing control samples to surgical samples, there was a significant difference in genes for Wnt signaling, TGF-ß, angiogenic and osteogenic factors, bone remodeling, and nuclear rigidity in mRNA isolated from the fusing and fused areas of the sagittal suture compared with patent areas (p < 0.05).CONCLUSIONSIn nonsyndromic sagittal craniosynostosis, the affected suture has variable areas of being open, fusing, and fused. These specific areas have different mRNA expression. The results suggest that BMP-2, FGFR3, and several other signaling pathways play a significant role in the regulation of suture fusion as well as in the maintenance of patency in the normal suture.

Hypophosphatemic rickets and craniosynostosis: a multicenter case series.

OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.

Minimizing transfusion requirements for children undergoing craniosynostosis repair: the CHoR protocol.

OBJECT: Children with craniosynostosis may require cranial vault remodeling to prevent or relieve elevated intracranial pressure and to correct the underlying craniofacial abnormalities. The procedure is typically associated with significant blood loss and high transfusion rates. The risks associated with transfusions are well documented and include transmission of infectious agents, bacterial contamination, acute hemolytic reactions, transfusion-related lung injury, and transfusion-related immune modulation. This study presents the Children's Hospital of Richmond (CHoR) protocol, which was developed to reduce the rate of blood transfusion in infants undergoing primary craniosynostosis repair. METHODS: A retrospective chart review of pediatric patients treated between January 2003 and Febuary 2012 was performed. The CHoR protocol was instituted in November 2008, with the following 3 components; 1) the use of preoperative erythropoietin and iron therapy, 2) the use of an intraoperative blood recycling device, and 3) acceptance of a lower level of hemoglobin as a trigger for transfusion (< 7 g/dl). Patients who underwent surgery prior to the protocol implementation served as controls. RESULTS: A total of 60 children were included in the study, 32 of whom were treated with the CHoR protocol. The control (C) and protocol (P) groups were comparable with respect to patient age (7 vs 8.4 months, p = 0.145). Recombinant erythropoietin effectively raised the mean preoperative hemoglobin level in the P group (12 vs 9.7 g/dl, p < 0.001). Although adoption of more aggressive surgical vault remodeling in 2008 resulted in a higher estimated blood loss (212 vs 114.5 ml, p = 0.004) and length of surgery (4 vs 2.8 hours, p < 0.001), transfusion was performed in significantly fewer cases in the P group (56% vs 96%, p < 0.001). The mean length of stay in the hospital was shorter for the P group (2.6 vs 3.4 days, p < 0.001). CONCLUSIONS: A protocol that includes preoperative administration of recombinant erythropoietin, intraoperative autologous blood recycling, and accepting a lower transfusion trigger significantly decreased transfusion utilization (p < 0.001). A decreased length of stay (p < 0.001) was seen, although the authors did not investigate whether composite transfusion complication reductions led to better outcomes.

Intraventricular twin fetuses in fetu.

The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th-75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th-75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Prenatal ultrasonography studies performed at 12 weeks and 5 days, and 19 weeks and 6 days revealed normal findings. A 37-week prenatal ultrasonography study showed ventriculomegaly and obstructive hydrocephalus, with a possible intracranial teratoma. Cranial imaging at birth with ultrasonography, CT and MR imaging, and MR angiography demonstrated 2 complex intraventricular masses with cystic, solid, and bony elements. A craniotomy with resection of the masses was performed at 3 months of age. The infant survived and is now 12 months old with some developmental progress. Two axial skeletons, with accompanying rib cage and extremities, including well-formed feet and toes, were noted. Both anencephalic structures had skin with hair, fat, skeletal and smooth muscle, and bony structures with bone marrow and focal areas of calcification. Multiple viscera were present and included thymus, bowel, stomach, salivary gland, kidney, adrenal gland, lung, and presumed adnexal structures. A diagnosis of fetuses in fetu was rendered. Chromosomal studies of the child and tissue from the 2 fetuses in fetu showed normal female karyotypes. A single nucleotide polymorphism array analysis from the proband infant and tissue from the 2 identified fetuses in fetu appeared to be genetically identical. These results are consistent with a monozygotic twin embryonic origin of the fetus in fetu tissue, which is a mechanism that has been suggested in previous reports in which karyotypes, blood types, and limited genetic loci have been studied. This is the first report of a rare example of intracranial intraventricular twin fetuses in fetu for which a genome-wide single nucleotide polymorphism assay has confirmed their genetic identity.

Level of the conus in pediatric patients with skeletal dysplasia.

OBJECT: Skeletal dysplasias are a heterogeneous group of disorders that affect bone development and can result in reduced vertebral body growth and short stature. The level of the conus medullaris is unknown in this population. The purpose of this review was to determine the level of the conus in a population of pediatric patients with skeletal dysplasia. METHODS: A retrospective chart review of a 7-year period was undertaken at a tertiary care pediatric hospital to identify patients in whom skeletal dysplasia had been diagnosed. Radiographs and MR imaging studies were evaluated to discern the level of the conus with respect to the bony vertebral column. RESULTS: Four hundred sixty-seven patients with skeletal dysplasia were identified. One hundred eleven patients had quality MR images. Forty-seven different skeletal dysplasias were observed. The mean conus level was found at the L-1 vertebral body. No difference was noted with respect to the age of the patients or the type of skeletal dysplasia. Two patients (1.7%) had a conus level lower than L-2. CONCLUSIONS: Skeletal dysplasia leads to abnormal bone formation and can result in short stature. The location of the conus with respect to the vertebral bodies appears to be stable at the L-1 level regardless of patient age or the type of skeletal dysplasia involved. However, the appearance of a low-level conus and associated tethered cord syndrome may be slightly increased in this population.

The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes.

OBJECT: The Dandy-Walker complex is a continuum of aberrant development of the posterior fossa that has been associated with multiple congenital anomalies, radiographic abnormalities, and developmental delay. The Dandy-Walker variant (DWV) is a unique entity believed to represent a milder form of the complex, and is characterized by a specific constellation of radiographic findings. In this retrospective case series, the authors report the association of the DWV with other congenital anomalies, the associated radiographic findings linked with DWV, and the developmental outcome in this population. METHODS: The charts and radiographs of 10 male and 14 female patients treated between 2000 and 2006 were examined. The patients' mean gestational age was 35.6 weeks (range 23-41 weeks), and the mean follow-up period was 5.1 years (range 1 month-15 years). RESULTS: Three patients died. Associated anomalies included cardiac (41.7%), neurological (33.3%), gastrointestinal (20.8%), orthopedic (12.5%), and genitourinary (12.5%) abnormalities. Less common were pulmonary and psychiatric findings. Developmental delay was identified in 11 of the 21 patients for whom follow-up was available. Five of 6 patients with isolated DWV had a normal developmental course. Radiographic findings associated with DWV included corpus callosum dysgenesis in 20.8%, ventricular enlargement in 29%, and vermian rotation in 8.3%. Shunts were placed in 4 of 7 patients with ventriculomegaly. Using the two-tailed Pearson correlation, the authors determined that developmental outcome was solely affected by neurological deficits and that ventricular enlargement predicted the need for shunt placement. CONCLUSIONS: The DWV was associated with both extra- and intracranial anomalies. Associated radiographic abnormalities including ventriculomegaly were observed. Hydrocephalus requiring cerebrospinal fluid diversion may be indicated. Isolated DWV was associated with a good developmental outcome.

Positional plagiocephaly: evaluation and management.

Positional plagiocephaly is a cranial vault deformation in the presence of open cranial vault sutures with no negative neurologic consequences. A distinct morphologic pattern and patent cranial sutures noted on confirmatory radiographic studies distinguish positional plagiocephaly from abnormal head shapes secondary to craniosynostosis. Management consists of conservative (nonsurgical) means, depending on the extent of the cranial asymmetry and any contributing etiologic factors. Clinicians must be well versed in the differential diagnosis of plagiocephaly to determine if treatment should be surgical or nonsurgical. Positional plagiocephaly is a nonsynostotic condition in which there is a deformation of the cranial vault in the presence of otherwise open, normally functioning sutures. The reported incidence of positional plagiocephaly has increased with the implementation of "Back to Sleep" guidelines for the prevention of sudden infant death syndrome. Pediatricians also have maintained an increased awareness of the importance of early referral for evaluation of abnormal head shape during infancy.

Nonsyndromic craniosynostosis: diagnosis and contemporary surgical management.

Contemporary surgical management of nonsyndromic craniosynostosis requires the combined expertise of a pediatric craniofacial surgeon and pediatric neurosurgeon. The goals of surgical intervention are the release of the affected suture, which allows for unrestricted development of the visceral components (eg, brain, eyes) and three-dimensional reconstruction of the skeletal components, which establishes a more normal anatomic position and contour. Surgeon who care for infants with these cranial and orbital malformations must maintain a thorough understanding of the three-dimensional anatomy, characteristic dysmorphology associated with the different types of synostosis, and the complex interplay that exists between surgical intervention and ongoing skeletal growth.