Missed radiographic and clinical findings in a case of non-idiopathic scoliosis resulting from chondroblastoma.

PURPOSE: Chondroblastoma is a cartilaginous neoplasm which rarely presents in the spine, where it has been shown to exhibit aggressive behavior. We present a case of a late diagnosis of a T12 chondroblastoma causing paraparesis in an 11-year-old girl. Several missed classical radiographic and clinical features are highlighted. METHODS: We reviewed clinical, imaging, and pathology data from the time of transfer to our institution, followed by review of all outside clinical records and imaging data from 14 months prior to admission until onset of paraplegia. RESULTS: The patient was transferred to our center for emergent treatment of a large, expansile, exophytic lesion compressing the spinal cord at T12. Intravenous steroids improved her neurologic status to ASIA Grade B, and an en bloc posterior element resection was performed emergently within 24 h. She rapidly improved to an ASIA Grade E. After obtaining all prior imaging during detailed histopathologic work-up, the final diagnosis was that of spinal chondroblastoma. Subsequent anterior en bloc resection was performed. The patient remains disease-free with a stable, residual scoliosis 7 years postoperatively. CONCLUSIONS: Detailed review of radiographs is essential for scoliosis patients. Earlier recognition of the "winking owl" sign, a kyphotic sagittal alignment, and more concern about a child with a painful curve may have resulted in earlier diagnosis before the onset of neurologic deficits.

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.

We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene. Both cases were initially thought to have alternative disorders but were later correctly diagnosed through whole-exome sequencing. These cases expand upon our knowledge of the phenotypic spectrum in patients with MFDM, which will aid in defining the full phenotype of this disorder and increase awareness of this condition.

Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder.

Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset. MRI revealed a mass compressing her cervical spine as the cause, and work up suggested immune dysfunction as possible etiology. To our knowledge, this complication has not been reported before in association with the disease. We introduce the disease by explaining the molecular pathology behind its presenting features. The neurological findings, documented in association with CIPA, are summarized and serve as a reference for the various presentations of this rare disorder. Since this disease is known to affect the immune system, immune defects in CIPA are discussed with recommendations for surveillance of patient's immune status.

Endoscope-assisted versus open repair of craniosynostosis: a comparison of perioperative cost and risk.

BACKGROUND: Craniosynostosis, the premature closure of calvarial sutures, results in characteristic skull deformations. Correction of craniosynostosis has traditionally involved an open cranial vault remodeling procedure. A technique recently developed uses an endoscope to perform a strip craniectomy in conjunction with a postoperative molding helmet to guide cranial growth. Few studies compare these 2 approaches to the treatment of the various forms of craniosynostosis. In this study, we present a single institution's experience with open cranial vault remodeling and endoscope-assisted strip craniectomy. METHODS: This study is a retrospective review of 57 patients that underwent craniosynostosis repair by either the endoscope-assisted or open techniques, and compared operating room times, blood loss, volume of transfused blood, length of hospital stay, and overall costs. RESULTS: The endoscopic technique is performed on younger children (4.7 months vs 10.6 months, P = 0.001), has shorter operating room times (2 hours 13 minutes vs 5 hours 42 minutes, P = 0.001), lower estimated blood loss (74.4 mL vs 280.2 mL, P = 0.001), less transfused blood (90.6 mL vs 226.9 mL), shorter hospital stays (1.2 days vs 4.9 days, P = 0.001), and decreased cost ($24,404 vs $42,744, P = 0.008) relative to the traditional open approach. CONCLUSIONS: Issues with the endoscope-assisted procedure primarily concerned the postoperative helmet regimen, specifically patient compliance (17.1% noncompliance rate) and minor skin breakdown (5.7%). The endoscope-assisted repair with postoperative helmet molding therapy is a cost-effective procedure with less operative risk and minimal postoperative morbidity. This is a valuable treatment option in younger patients with compliant caregivers.

Cerebrospinal fluid shunt operations without cranial bandaging. Clinical article.

OBJECT: Cranial bandages are commonly applied over scalp incisions immediately after cerebrospinal fluid (CSF) shunt surgery, putatively to prevent complications, particularly infection. These bandages require resources, consume the time of healthcare workers, and incur non-negligible expenses. It is therefore both reasonable and important to examine the efficacy of cranial bandaging. METHODS: The combined experience of 3 neurosurgeons over 6.75 years with using no cranial bandaging after operations for implantation or revision of CSF shunts is the basis of this report. These data were prospectively accrued and retrospectively analyzed. RESULTS: The infection rate was 4.2% (95% CI 3.1-5.6%) for 1064 operations performed without postoperative cranial bandaging after either shunt insertion or revision surgery through clean or clean-contaminated wounds. The age distribution extended from premature infants through adults 77 years of age. CONCLUSIONS: The results of this investigation support the position that bandaging scalp wounds after CSF shunt implantation or revision surgery adds no benefit beyond the easier, simpler, faster, and cheaper practice of using antibiotic ointment as a dressing without bandaging.

Vancomycin disposition and penetration into ventricular fluid of the central nervous system following intravenous therapy in patients with cerebrospinal devices.

OBJECTIVE/AIMS: To determine the cerebrospinal fluid concentrations and percent CNS penetration of intravenous vancomycin in patients with cerebrospinal devices at a pediatric institution. METHODS: We performed a prospective evaluation of intravenous (IV) vancomycin in patients who received a single prophylactic dose of vancomycin (15-20 mg/, maximum dose 1 g) prior to insertion of a CNS shunt (group I) or a therapeutic regimen (a dose of 10-20 mg/kg every 6-12 h) for a documented/suspected shunt infection (group II). Ventricular cerebrospinal fluid (VCSF) samples were taken during the procedure in group I and multiple serum and VCSF samples were collected in group II. Pharmacokinetic parameters were calculated using a one-compartment model, and percent CNS penetration was estimated using area-under-the-curve methodology. RESULTS: Group I: 21 VCSF samples were analyzed from 19 patients (mean age 7.2 +/- 6.4 years). Over 40% of samples failed to have detectable vancomycin concentrations (range 0-2 microg/ml). Group II: 6 patients (mean age 11 +/- 8.7 years) had VCSF concentrations ranging from nondetectable to 6.59 microg/ml (mean 2.48 +/- 0.52 microg/ml). Percent penetration ranged from 0.77 to 18%. CONCLUSIONS: Single-dose, pre-operative vancomycin results in low VCSF vancomycin concentrations and repeated dosing in patients with documented/presumed device infections yields variable CNS penetration.

Bandages, dressings, and cranial neurosurgery.

OBJECT: Bandages and dressings are commonly applied to incisional scalp wounds to prevent complications, particularly infection, during the early stages of wound healing. Bandaging cranial incisional wounds requires resources, consumes healthcare workers' time, and incurs expense; it is therefore important to examine its efficacy. METHODS: All cranial operations (excluding shunt placements, procedures on the scalp alone, and bur hole procedures) performed between June 30, 2001 and January 1, 2006, by two neurosurgeons at either of two hospitals, one adult and one pediatric institution, were reviewed. Surgical site infections (SSIs) and other postoperative complications were investigated with respect to the use of bandaging for incisional wounds and other aspects of postoperative wound management. The operations were classified into four categories based on wound type: "clean," "clean-contaminated," "contaminated," and "dirty," according to the criteria of the Centers for Disease Control and Prevention. CONCLUSIONS: A total of 702 operations were performed in 577 patients; only five patients received any type of surgical bandaging. There were four SSIs (0.57%; 95% confidence interval [CI] 0.16-1.45). The postoperative infection rate in the 626 clean cases was 0.48% (95% CI 0.10-1.39) and was 2.63% (95% CI 0.07-13.81) in the 38 clean-contaminated cases. The data obtained in this investigation is consistent with the position that bandaging incisional scalp wounds after cranial surgery adds little if any benefit beyond the easier, simpler, and cheaper practice of using antibiotic ointment as a dressing without bandaging.

Variability in brain death declaration practices in pediatric head trauma patients.

The American Academy of Pediatrics' 'Guidelines for the determination of brain death in children' [Pediatrics 1987;80: 298-300] has been cited since its publication as the definitive reference for all cases of pediatric brain death. As these guidelines appear to have been designed for use in patients where the etiology of coma is unclear, they often seem inappropriate in cases of severe head trauma. We questioned whether these guidelines were truly the national standard of practice, particularly in instances of brain death secondary to head trauma. We conducted a survey of pediatric hospitals and pediatric neurosurgeons across the country regarding this matter, and found that their brain death declaration practices varied widely. The majority of hospitals and neurosurgeons in our survey do not follow the guidelines exactly. We feel that these guidelines should be reevaluated and perhaps revised, especially in the setting of severe head trauma.

Cystoventricular shunting of intracranial arachnoid cysts.

Ten patients with intracranial arachnoid cysts were treated with direct shunting of the cyst to a lateral ventricle. The strategic goal of cystoventricular shunting is to establish physiologically normal intracranial pressure relationships, rather than cyst obliteration. Cystoventricular shunts were successful in treating single and multiple intracranial cysts in supratentorial and infratentorial locations and in patients with normal and enlarged lateral ventricles. Cystoventricular shunting is conceptually simple as well as effective and reliable.