Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1.

Although optic pathway gliomas are the most common brain tumors associated with neurofibromatosis type 1 (NF1), extra-optic gliomas occur and may behave more aggressively with outcomes that differ by age. A retrospective case-control study was designed to describe the clinical course of adult NF1 patients with progressive extra-optic pilocytic astrocytomas (PAs) and compare to a pediatric cohort. Data for patients treated at the Johns Hopkins Comprehensive Neurofibromatosis Center from 2003 to 2013 were reviewed to identify cases (adults, age >18) and controls (pediatric, age <18) with clinically or radiographically progressive extra-optic PAs. Demographic, clinical, histologic, and radiographic data were collected. Three adult NF1 cases and four pediatric NF1 controls were identified. Mean age was 32.3 ± 9.5 years, 66% male (cases); 12.8 ± 4.2 years, 100% male (controls). Symptomatic progression occurred in two-of-three adults (67%) while the majority of pediatric patients presented with isolated radiographic progression (n = 3, 75%). Onset tended to be more rapid in adults (4 ± 1 vs. 14 ± 8.3 months, P = 0.10). Subtotal resection was the treatment for all pediatric patients. Radiotherapy (n = 2), chemotherapy (n = 2), and targeted, biologic agents (n = 2) were administered in adults. Although all pediatric patients are living, outcomes were universally poor in adults with progression to death in all (median survival 17.1 months, range 6.6-30.3). In conclusion, despite grade I histology, all three adult NF1 patients with progressive extra-optic PAs suffered an aggressive clinical course which was not seen in pediatric patients. Clinicians should be aware of this clinico-histologic discrepancy when counseling and managing adult NF1 patients with progressive extra-optic PAs. © 2016 Wiley Periodicals, Inc.

Hydrocephalus in patients with closed neural tube defects.

BACKGROUND: Hydrocephalus is common in patients with open neural tube defects (NTDs), but association with closed NTDs has rarely been reported. We describe three patients with untreated closed NTDs who required surgery for hydrocephalus. CASE REPORTS: Case 1: A full-term newborn presented with a skin-covered midline lumbar spine lipoma. Magnetic resonance imaging (MRI) scan demonstrated a lipomyelomeningocele. An ultrasound at birth showed mild ventriculomegaly but cerebrospinal fluid diversion was not offered because his fontanelle was soft. He was lost to follow-up and then presented at age 6 months with signs and symptoms of hydrocephalus. An endoscopic third ventriculostomy and choroid plexus coagulation were performed, and the lipomyelomeningocele was subsequently repaired electively. Case 2: A full-term neonate presented with a skin-covered midline lumbar spine lesion consistent with a meningocele on MRI scan. He was additionally noted to have macrocephaly, a full fontanelle, and ventriculomegaly on MRI scan. At age 2 days, an endoscopic third ventriculostomy and choroid plexus coagulation were performed. A ventriculoperitoneal shunt was required 1 month later. Three months after birth, an elective spinal cord untethering procedure was performed. Case 3: A neonate presented with a midline lumbar skin tag. An MRI scan demonstrated a lipomyelomeningocele, and surgery was planned electively. On preoperative evaluation at age 3 months, the patient had a tense fontanelle. The surgery was postponed, and a ventriculoperitoneal shunt was placed after imaging studies revealed hydrocephalus. CONCLUSION: Patients with closed NTDs should be assessed for clinical signs and symptoms of hydrocephalus because of this rare but possible association.

Ketamine Boluses Are Associated with a Reduction in Intracranial Pressure and an Increase in Cerebral Perfusion Pressure: A Retrospective Observational Study of Patients with Severe Traumatic Brain Injury.

Background: Increased intracranial pressure (ICP) and hypotension have long been shown to lead to worse outcomes in the severe traumatic brain injury (TBI) population. Adequate sedation is a fundamental principle in TBI care, and ketamine is an attractive option for sedation since it does not commonly cause systemic hypotension, whereas most other sedative medications do. We evaluated the effects of ketamine boluses on both ICP and cerebral perfusion pressure (CPP) in patients with severe TBI and refractory ICP. Methods: We conducted a retrospective review of all patients admitted to the neurointensive care unit at a single tertiary referral center who had a severe traumatic brain injury with indwelling intracranial pressure monitors. We identified those patients with refractory intracranial pressure who received boluses of ketamine. We defined refractory as any sustained ICP greater than 20 mmHg after the patient was adequately sedated, serum Na was at goal, and CO2 was maintained between 35 and 40 mmHg. The primary outcome was a reduction in ICP with a subsequent increase in CPP. Results: The patient cohort consisted of 44 patients with a median age of 30 years and a median presenting Glasgow Coma Scale (GCS) of 5. The median reduction in ICP after administration of a ketamine bolus was -3.5 mmHg (IQR -9 to +1), and the postketamine ICP was significantly different from baseline (p < 0.001). Ketamine boluses led to an increase in CPP by 2 mmHg (IQR -5 to +12), which was also significantly different from baseline (p < 0.001). Conclusion: In this single-institution study of patients with severe traumatic brain injury, ketamine boluses were associated with a reduction in ICP and an increase in CPP. This was a retrospective review of 43 patients and is therefore limited in nature, but further randomized controlled trials should be performed to confirm the findings.

Thoracic primary central nervous system melanoma and lumbar schwannoma of complex neurocristopathy: case report.

Complex neurocristopathy, a disorder resulting from the aberrant proliferation of tissues derived from neural crest cells, has been previously reported in 2 patients, both involving ophthalmic melanoma and other tumors. One patient had a periorbital neurofibroma, sphenoid wing meningioma, and choroid juxtapapillary meningioma. The other patient had a choroidal melanoma and an optic nerve sheath meningioma. The authors describe clinical and pathological findings in a patient who underwent resection of 2 distinct lesions: primary CNS melanoma at T-12 and an L-5 schwannoma. Clinical and histopathological findings of the case are reviewed. To the authors' knowledge, this is the first patient to present with complex neurocristopathy involving both a spinal melanoma and schwannoma.