Meconium staining of open myelomeningoceles has been reported to occur both prenatally and postnatally, but meconium staining of the brainstem has not been previously documented. The authors present a case of meconium staining of the brainstem in an infant with a meconium-stained myelomeningocele, Chiari malformation Type II, and hydrocephalus and discuss possible implications for prenatal and perinatal care.
Sandi Lam, Ramesh Grandhi and Stephanie Greene
Christopher M. Bonfield, Sandi Lam, Yimo Lin and Stephanie Greene
Attention deficit hyperactivity disorder (ADHD) and traumatic brain injury (TBI) are significant independent public health concerns in the pediatric population. This study explores the impact of a premorbid diagnosis of ADHD on outcome following mild TBI.
The charts of all patients with a diagnosis of mild closed head injury (CHI) and ADHD who were admitted to Children's Hospital of Pittsburgh between January 2003 and December 2010 were retrospectively reviewed after institutional review board approval was granted. Patient demographics, initial Glasgow Coma Scale (GCS) score, hospital course, and King's Outcome Scale for Childhood Head Injury (KOSCHI) score were recorded. The results were compared with a sample of age-matched controls admitted with a diagnosis of CHI without ADHD.
Forty-eight patients with mild CHI and ADHD, and 45 patients with mild CHI without ADHD were included in the statistical analysis. Mild TBI due to CHI was defined as an initial GCS score of 13–15. The ADHD group had a mean age of 12.2 years (range 6–17 years), and the control group had a mean age of 11.14 years (range 5–16 years). For patients with mild TBI who had ADHD, 25% were moderately disabled (KOSCHI Score 4b), and 56% had completely recovered (KOSCHI Score 5b) at follow-up. For patients with mild TBI without ADHD, 2% were moderately disabled and 84% had completely recovered at follow-up (p < 0.01). Patients with ADHD were statistically significantly more disabled after mild TBI than were control patients without ADHD, even when controlling for age, sex, initial GCS score, hospital length of stay, length of follow-up, mechanism of injury, and presence of other (extracranial) injury.
Patients who sustain mild TBIs in the setting of a premorbid diagnosis of ADHD are more likely to be moderately disabled by the injury than are patients without ADHD.
Gurpreet S. Gandhoke, Ezequiel Goldschmidt, Robert Kellogg and Stephanie Greene
A fetal MRI study obtained at 21 weeks’ gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed. The drain was weaned out over 5 days, and no ventriculoperitoneal shunt was placed. Postoperative MR images revealed normal cerebellum and no hydrocephalus. The patient is developmentally normal. Meningocele and encephalocele are embryologically distinct. An acquired encephalocele could develop from hydrocephalus (which was not present in this case), or secondary to the lower resistance to expansion into the dural defect of the meningocele relative to the resistance to expansion of the fetal skull. The cerebellar tissue was normal in this case, and was thus preserved. The developmental prognosis is excellent. To the authors’ knowledge, this is the first reported case of this occurrence. It is important to differentiate between congenital and acquired encephalocele etiologies, because resection of the cerebellar tissue in an acquired encephalocele (as is routinely done in cases of congenital encephalocele) would be expected to result in neurological deficits.
Ali Kooshkabadi, Brian Jankowitz, Phillip A. Choi, Gregory M. Weiner and Stephanie Greene
The authors present the case of a boy who was successfully managed through the spontaneous thrombosis of a cavernous internal carotid artery (ICA) aneurysm, the subsequent occlusion of the ICA, its recanalization, and ultimate endovascular sacrifice, using only two angiograms because of the diagnostic capability of CT angiography. Spontaneous recanalization of the ICA following occlusion in the setting of a giant aneurysm has not been previously reported.
Mahesh Karandikar, Robert F. Yellon, Geoffrey Murdoch and Stephanie Greene
Dermoid cysts, encephaloceles, and dermal sinus tracts represent abnormalities that develop during the process of embryogenesis. The elucidation of the precise timing of formation for these malformations has remained elusive at the molecular level of study. Yet, clinical experience has demonstrated that these malformations do not all occur in the same patient, suggesting a shared pathway that goes awry at distinct points for different patients, resulting in 1 of the 3 malformations. Herein the authors describe a case in which all 3 malformations were present in a single patient. This is the first description in the English literature of a sincipital encephalocele occurring with a dermoid cyst and a dermal sinus tract.
Kimberly A. Foster, Sandi Lam, Yimo Lin and Stephanie Greene
Tethered cord (TC) is a neurological disorder caused by tissue attachments that limit the normal movement of the spinal cord. A TC can be unmasked by a cutaneous abnormality or manifest clinically in myriad neurological, urological, and orthopedic symptoms. The relationship between TC and height is previously unknown. This study investigates the association between TC release and changes in height profiles in the pediatric population.
Fifty-two children undergoing first-time TC release at a single institution were examined retrospectively. Clinical symptoms, radiographic findings, pre- and postoperative height, and height-for-age percentiles were recorded and analyzed.
Children with TC experienced a statistically significant increase in age-adjusted height percentiles after TC release (p = 0.0028), with a mean increase of 7 percentile points (from 48.1st to 54.9th percentile). When stratified by age, children 5 years or older (5–18 years) demonstrated a mean percentile increase of 10 percentile points (from 46.7th to 56.4th percentile) (p = 0.0001). Among the same age group, this effect scaled significantly with age (p = 0.02, beta coefficient −1.3). There was no significant difference in height-for-age after detethering surgery in children younger than 5 years. There was no significant association between the presence of clinical symptoms or specific radiographic findings and height outcomes after surgery. Overall, 56% of TC-related clinical symptoms improved after detethering (mean follow-up 4.6 months). Among children younger than 5 years, 82% of TC-related clinical symptoms improved after detethering (average follow-up 4.5 months); in children 5–18 years, 47% of symptoms improved after detethering (average follow-up 4.8 months).
The authors observed a statistically significant gain in height-for-age percentiles in children undergoing surgical release of TC. The authors' data suggest that such gains may be more significant in older children (≥ 5 years) and the increase appears to scale positively with youth in the older cohort. In this study, postoperative height gains did not appear to correlate with the presence of TC-related clinical symptoms or radiographic findings. Further investigation is necessary to elucidate any potential correlation between release of TC and height changes in children postoperatively.
Xiao Zhu, Michael M. McDowell, William C. Newman, Gary E. Mason, Stephanie Greene and Mandeep S. Tamber
Nivolumab is an immune checkpoint inhibitor (ICI) currently undergoing Phase III clinical trials for the treatment of glioblastoma. The authors present the case of a 10-year-old girl with glioblastoma treated with nivolumab under compassionate-use guidelines. After the first dose of nivolumab the patient developed hemiparesis, cerebral edema, and significant midline shift due to severe tumor necrosis. She was managed using intravenous dexamethasone and discharged on a dexamethasone taper. The patient's condition rapidly deteriorated after the second dose of nivolumab, demonstrating hemiplegia, seizures, and eventually unresponsiveness with a fixed and dilated left pupil. Computed tomography of her brain revealed malignant cerebral edema requiring emergency decompressive hemicraniectomy. Repeat imaging demonstrated increased size of the lesion, reflecting immune-mediated inflammation and tumor necrosis. The patient remained densely hemiplegic, but became progressively more interactive and was ultimately extubated. She resumed nivolumab several weeks later, but again her condition deteriorated with headache, vomiting, swelling at the craniectomy site, and limited right-sided facial movement following the sixth dose. MRI demonstrated severe midline shift and uncal herniation despite her craniectomy. Her condition gradually declined, and she died several days later under “do not resuscitate/do not intubate” orders. To the authors' knowledge, this represents the first case of malignant cerebral edema requiring operative intervention following nivolumab treatment for glioblastoma in a pediatric patient.
Gurpreet S. Gandhoke, Sabri Yilmaz, Lorelei Grunwaldt, Ronald L. Hamilton, David J. Salvetti and Stephanie Greene
While spinal epidural arteriovenous malformations, fistulas, and shunts are well reported, the presence of a venous malformation in the spinal epidural space is a rare phenomenon. Herein, the authors report the clinical presentation, imaging findings, pathological features, and the outcome of surgical and percutaneous interventional management of a mediastinal and spinal epidural venous malformation in a young woman who presented clinically with neurogenic claudication from presumed venous hypertension precipitating the formation of a syrinx. The patient underwent a C6–T5 osteoplastic laminectomy for decompression of the spinal canal and subtotal resection of the epidural venous malformation, followed by percutaneous sclerotherapy of the mediastinal and residual anterior spinal venous malformation. She developed transient loss of dorsal column sensation, which returned to baseline within 3 weeks of the surgery. A 6-month postoperative MRI study revealed complete resolution of the syrinx and the mediastinal venous malformation. Twelve months after the surgery, the patient has had resolution of all neurological symptoms with the exception of her premorbid migraine headaches. A multidisciplinary approach with partial resection and the use of percutaneous sclerotherapy for the residual malformation can be used to successfully treat a complex venous malformation.
Michael M. McDowell, Jason E. Blatt, Christopher P. Deibert, Nathan T. Zwagerman, Zachary J. Tempel and Stephanie Greene
Chiari malformation type II (CM-II) in myelomeningocele is associated with a significant rate of mortality and poor outcome. Death is frequently heralded by the onset or progression of neurological symptoms. The authors sought to identify predictors of poor outcome and mortality within the myelomeningocele population at Children’s Hospital of Pittsburgh.
A retrospective chart and radiology review was performed on all infants who underwent primary closure of a myelomeningocele defect at Children’s Hospital of Pittsburgh between the years of 1995 and 2015. Preoperative symptoms and signs leading to CM-II decompression, as well as operative details and postoperative changes in these symptoms and signs, were investigated in detail and correlated to outcome. Poor outcome was defined as death, stridor, or ventilator dependence. Deceased patients were separately assessed within this subgroup.
Thirty-two (21%) of 153 patients were found to have symptomatic CM-II. Of the 32 patients meeting inclusion criteria, 12 (38%) had poor outcomes. Eight patients (25%) died since initial presentation; 5 of these patients (16% of the overall cohort) died within the 1st year of life and 3 (9%) died during adolescence. Seven (88%) of the 8 patients who died had central apnea on presentation (p = 0.001) and 7 (44%) of the 16 patients who developed symptoms in the first 3 months of life died, compared with 1 (6.3%) of 16 who developed symptoms later in childhood (p = 0.04). The median Apgar score at 1 minute was 4.5 for patients who died and 8 for surviving patients (p = 0.006). The median diameter of the myelomeningocele defect was 5.75 cm for patients who died and 5 for those who survived (p = 0.01). The anatomical level of defect trended toward higher levels in patients who died, with 4 patients in that group having an anatomical level at L-2 or higher compared with 5 of the surviving patients (p = 0.001). The median initial head circumference for the 5 patients dying in the 1st year of life was 41.5 cm, versus 34 cm for all other patients (p = 0.01).
CM-II in spina bifida is associated with a significant mortality rate even when surgical intervention is performed. Death is more frequent in symptomatic patients presenting prior to 1 year of age. Late deaths are associated with symptom progression despite aggressive surgical and medical intervention. In this patient cohort, death was more likely in patients with symptomatic presentation during the first 3 months of life, low Apgar scores, large myelomeningocele defects, early central apnea, and large head circumference at birth.
Jason S. Hauptman, Robert Bollo, Rama Damerla, Brian Gibbs, Cecilia Lo, Aviva Katz and Stephanie Greene
Myelomeningocele and gastroschisis, on their own, are both relatively common entities encountered in pediatric surgical care. Coexistence of these pathologies, however, is exceedingly rare. The authors report on 2 patients who presented with myelomeningocele and gastroschisis at birth. They obtained blood for whole-exome analysis for one of the patients and identified 3 mutations that could be related to the underlying anomalies: homozygous mutations in FAM171B and ABCA1 and a hemizygous (X-linked) mutation in COL4A5. Of these, FAM171B and ABCA1 both have function that may be related to the underlying disease.