Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.

PURPOSE: This case report describes a toddler with a medical history of biotinidase deficiency who presented with atypical seizures due to a brain tumor. METHODS: This is a case report. RESULTS: Electroencephalogram revealed a frontal lobe mass, with magnetic resonance imaging confirmation of a mass extending from the frontal lobe into the genu and anterior corpus callosum. She underwent a near-total resection, and pathology identified a dysembryoplastic neuroepithelial tumor. The patient is now seizure free and clinically doing well. CONCLUSIONS: Children with biotinidase deficiency and atypical seizures should receive a full electroencephalogram evaluation, as brain tumors continue to be on the differential for seizures in this patient population.

The simple sacral dimple: diagnostic yield of ultrasound in neonates.

BACKGROUND: Although spinal cord tethering is known to be associated with certain clinical syndromes and cutaneous stigmata, its incidence in healthy infants with simple sacral dimples has not been thoroughly evaluated. OBJECTIVE: Our objective was to determine the frequency of tethered cord in otherwise healthy patients with simple sacral dimples. MATERIALS AND METHODS: We reviewed the lumbar spine US reports of all healthy neonates referred for a simple sacral dimple during a 12-year period at two children's hospitals. A sonogram was considered abnormal for a conus medullaris terminating below the L2-L3 disc space, decreased conus or nerve root motion, an abnormal filum terminale, or for the presence of an intraspinal mass, osseous dysraphism, or a sinus leading to the thecal sac. The medical records of patients with abnormal screening sonograms were reviewed to determine the final clinical outcome. RESULTS: During the study period 3,991 infants underwent screening sonography. Of these, 107 were excluded because of the presence of other medical conditions. Of the remaining 3,884 healthy infants, 133 (3.4%) had an abnormal sonogram. Five (0.13%) of these infants were lost to follow-up; 52 subsequently had normal follow-up imaging; 49 had a low conus without other signs of tethering; 18 had a fatty filum; 2 had decreased conus motion; 2 had both a low conus and a fatty filum. None of these infants underwent surgery. Only the remaining 5/3,884 (0.13%) infants underwent surgical intervention (95% CI: 0-0.27%), and 4/5 were found to have a tethered cord intraoperatively. CONCLUSION: The risk of significant spinal malformations in asymptomatic, healthy infants with an isolated simple sacral dimple is exceedingly low.

Intraoperative neurophysiologic monitoring in 80 patients with Chiari I malformation: role of duraplasty.

Neurophysiologic intraoperative monitoring of the brainstem auditory evoked potentials (BAEPs) is a widely used method to assess the functional integrity of the central auditory system during surgery involving the brainstem or the cranial nerves. The purpose of this study is to describe our experience with neurophysiologic intraoperative monitoring of BAEPs during posterior fossa decompression (PFD) surgery for the management of Chiari I malformation. Although suboccipital craniectomy is the standard surgical technique applied in all cases undergoing PFD, the role of dural patch grafting (duraplasty) remains controversial. In most cases, the PFD was supplemented by duraplasty only when the Chiari I malformation was complicated by the presence of syringomyelia. Our study reviewed the intraoperative BAEP changes during the different surgical stages of Chiari repair and correlated these with clinical and radiological findings present. Our data revealed that for both groups of patients, with or without associated syringomyelia, the predominant improvement in central conduction in most cases occurred during the period of bony decompression without significant additional improvement after the duraplasty procedure.

Abdominal complications of ventriculoperitoneal shunts in children.

Ventricular peritoneal cerebrospinal fluid shunting has become a common pediatric neurosurgical procedure over the last 40 years. While invaluable for these patients, shunts are prone to complications, especially in children. Abdominal complications are often secondary to infection and its complications, and may be difficult to recognize in these medically complex children. Imaging is often required, but the findings may be subtle and require an appreciation of the spectrum of possible abnormalities. This article reviews the imaging findings present with abdominal shunt complications.

Spontaneous regression of a diffuse brainstem lesion in the neonate. Report of two cases and review of the literature.

The authors present two cases of diffuse brainstem lesions that regressed without treatment. Two newborns presented with cranial nerve palsies and limb weakness at birth. Magnetic resonance (MR) images obtained in the 1st week of life revealed a large, expansive pontomedullary lesion in each patient. Findings of clinical and imaging examinations were highly consistent with the characteristics of diffuse brainstem glioma. After consultation with the parents of both infants, all parties agreed to forgo the treatment modalities available at the time. Neither patient underwent surgery, radiation treatment, or chemotherapy; both underwent routine neurological and MR imaging examinations. Within weeks the patient in Case 1 started to improve clinically and at 4 years of age has reached nearly all developmental milestones. Serial MR images demonstrated a steady decrease in the size of the lesion. The patient in Case 2 improved in a similar manner and is now 10 years old. The findings from these two cases should encourage families and clinicians to consider that a subcategory of diffuse lesions may exist, particularly in the neonatal period. It must be stressed, however, that nearly all patients with diffuse brainstem lesions experience a poor outcome, regardless of tumor grade or treatment. Brainstem gliomas, spontaneous regression of central nervous system tumors, and the differential diagnoses of brainstem lesions are discussed.