Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.

Pallister-Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.

Image-guided biopsy of intracranial lesions in children, with a small robotic device: a case series.

BACKGROUND AND OBJECTIVES: Robot-assisted biopsies have gained popularity in the last years. Most robotic procedures are performed with a floor-based robotic arm. Recently, Medtronic Stealth Autoguide, a miniaturized robotic arm that work together with an optical neuronavigation system, was launched. Its application in pediatric cases is relatively unexplored. In this study, we retrospectively report our experience using the Stealth Autoguide, for frameless stereotactic biopsies in pediatric patients. METHODS: Pediatric patients who underwent stereotactic biopsy using the Stealth Autoguide cranial robotic platform from July 2020 to May 2023 were included in this study. Clinical, neuroradiological, surgical, and histological data were collected and analyzed. RESULTS: Nineteen patients underwent 20 procedures (mean age was 9-year-old, range 1-17). In four patients, biopsy was part of a more complex surgical procedure (laser interstitial thermal therapy - LITT). The most common indication was diffuse intrinsic brain stem tumor, followed by diffuse supratentorial tumor. Nine procedures were performed in prone position, eight in supine position, and three in lateral position. Facial surface registration was adopted in six procedures, skull-fixed fiducials in 14. The biopsy diagnostic tissue acquisition rate was 100% in the patients who underwent only biopsy, while in the biopsy/LITT group, one case was not diagnostic. No patients developed clinically relevant postoperative complications. CONCLUSION: The Stealth Autoguide system has proven to be safe, diagnostic, and highly accurate in performing stereotactic biopsies for both supratentorial and infratentorial lesions in the pediatric population.

Jugular foramen stenosis in external hydrocephalus in infants.

OBJECTIVE: To measure the size of jugular foramina in infants affected by external hydrocephalus (EH) and in a control group, to support the hypothesis that a jugular foramen (JF) stenosis may determine dural venous sinus alterations and increased venous outflow resistance as main pathophysiological factor. METHODS: Minimum, maximum, and mean values of JF areas were measured in a series of phase-contrast magnetic resonance venous angiography (angio MRV PCA3D) performed on 81 infants affected by EH. Results were compared with a group of 54 controls. RESULTS: Smaller JF area was significantly smaller in patients versus controls (43.1 ± 14.6 vs. 52.7 ± 17.8; p < 0.001) resulting in a significantly smaller mean JF areas in patients vs. controls (51.6 ± 15.8 vs. 57.0 ± 18.3; p = 0.043). In patients, smaller JF areas were significantly associated with higher venous obstruction grading score (VOGS) both on the right (p = 0.018) and on the left side (p = 0.005). Positional plagiocephaly (cranial vault asymmetry index > 3.5%) was more frequent among EH patients than controls (38/17) but the difference was not significant (p = 0.07). In the 38 plagiocephalic patients, JF area was smaller on the flattened side than the contralateral in a significant number of cases both in right (21/7) and left (9/1) plagiocephaly (p < 0.0005) as well as the mean area (48.2 + 16.4 mm2 vs. 57.5 + 20.7 mm2, p = 0.002) and VOGS was significantly higher on the plagiocephalic side than on the contralateral side (1.6 ± 1.1 vs. 1.1 ± 0.9, p = 0.019). CONCLUSION: In this series of infants affected by EH, the mean size of the ostium of both JF resulted significantly smaller than controls. JF stenosis was significantly associated with higher degrees of venous obstruction on both sides, suggesting a direct extrinsic effect of JF size on dural sinus lumen and possible consequent effect on venous outflow resistance. Positional plagiocephaly, when present, was associated with a decreased JF area and increased VOGS on the flattened side.

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

PURPOSE: Craniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic. In syndromic CRS, other birth defects are present next to the CRS. The distinction between nonsyndromic and syndromic manifestations is made on the basis of dysmorphologic evaluation and genetic evaluation. Owing to advances in genetic diagnostics, nonsyndromic patients are increasingly recognized as syndromic patients. CRS treatment is almost entirely surgical and is sometimes paired with postoperative helmet therapy for maintenance. Corrective procedures are complex, long, and associated with the risk of numerous complications, including heavy blood loss and its sequelae. Although surgery may restore a normal appearance, even in nonsyndromic patients, patients may experience persistent deficits in intellectual ability and cognitive function. The European Commission (EC) has prioritized rare diseases in recent horizon European research programs; indeed, collections or even individual samples may be extremely valuable for research. METHODS AND RESULTS: Here, we present a study protocol in which the combined expertise of clinicians and researchers will be exploited to generate a biobank dedicated to CRS. The generation of the CRS biobank presented in this study will include the collection of different types of biological materials as well as advanced radiological images available to the scientific community. CONCLUSION: The activation of a CRS biobank will provide an opportunity to improve translational research on CRS and to share its benefits with the scientific community and patients and their families.

Occipital Interhemispheric Retrocallosal Transtentorial Approach to a Tectal Tumor in an 8-Year-Old Girl: Operative Video.

Tectal plate tumors are a rare subset of midbrain tumors in pediatric populations. They are slow growing and low grade, with indolent and subtle manifestation unless they cause hydrocephalus.1-5 We present a tectal tumor in an 8-year-old girl (Video 1). Her clinical onset occurred with headache, vomiting, and seizure secondary to intracranial hypertension. MRI revealed a ring-enhanced, roundish lesion of tectal plate, with posterior displacement of quadrigeminal corpora determining aqueductal stenosis and obstructive triventricular hydrocephalus. First, to restore CSF circulation, we performed an endoscopic third-ventriculostomy without lesion's biopsy, since there was normal brain tissue within the third ventricle and the tumor. Tumoral marker values were in the average range, so surgery was planned to remove the tumor. The patient, after the positioning of external lumbar drainage, underwent an occipital posterior interhemispheric retrocallosal transtentorial approach, which represents a direct surgical corridor to quadrigeminal cistern and quadrigeminal plate. Arachnoidal dissection of mesencephalic cistern and cutting of the tentorium are mandatory to obtain adequate exposure of quadrigeminal region, control over vascular structures, and lesser brain retraction. Identification of anatomical components and relationships between quadrigeminal plate with vein of Galen, PCA branches, tentorium, and medial occipital veins represents a crucial point. When this approach is selected, the venous anatomy must be navigated with caution. Angiography's venous phase may provide additional planning information.6 Coagulation of vascular structures such as occipital veins is carefully avoided since it creates risk of venous infarction, leading to visual loss. Histologic examination revealed a rosette-forming glioneuronal tumor (grade I WHO 20217).

Endoscopic Ultrasonic Aspiration of Brain Abscess.

Brain abscess is a focal infection occurring within the brain parenchyma consisting of a pus collection surrounded by a vascularized capsule and a fibrinous-caseous layer between the pus and capsule. Surgery is indicated for lesions with a diameter >25 mm. Different surgical approaches have been described, including puncturing of the abscess (under neuronavigation, stereotactic or echographic guidance) with aspiration of the purulent fluid through a catheter and craniotomy with microsurgical removal of the purulent material and surrounding capsule. In recent years, the endoscopic approach has become more frequently used to treat brain abscesses. The theoretical advantages are visual awareness of the completeness of pus removal and the possibility of also removing the more solid fibrinoid component, which could be the source of recurrence. Craniotomy is likewise avoided. We present the case of an 11-year-old boy affected by a parieto-occipital brain abscess and initial ventriculitis who underwent endoscopic surgery. An ultrasonic aspirator was used to wash and suck the purulent material and fragment and remove the more solid fibrinoid component. The occipital horn of the lateral ventricle was also entered, and pus was removed. At the end of the procedure, a ventricular drainage tube was left in the surgical cavity. It was removed 1 day later, because the cavity had completely collapsed. The key surgical steps are presented in Video 1.1-9 The procedure was uneventful, with very good clinical and radiological results. The endoscopic technique has been shown to be a safe and effective treatment option for intracranial abscess. In the case of large superficial lesions, the surgical risks appear similar to those of simple drainage through catheters, with a possible reduction of the 20% reported recurrence rate. The use of an ultrasonic aspirator could facilitate complete and faster pus removal, increasing the efficacy of the procedure. The patient and his parents consented to the procedure and the report of the patient's case details and imaging studies. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Low-grade epilepsy-associated tumors: Epilepsy outcome and antiseizure medication discontinuation after lesionectomies as first-line surgical approach in pediatric population.

OBJECTIVE: This study aimed to evaluate epilepsy outcome and antiseizure medication (ASM) discontinuation after lesionectomies as first surgical approach in pediatric population diagnosed with low-grade epilepsy-associated neuroepithelial tumors (LEATs). METHODS: We conducted a retrospective study. Thirty-six consecutive patients with histological diagnoses of LEATs who underwent surgery between 2018 and 2021 at our institution were included. The clinical and surgical data were retrospectively analyzed. RESULTS: Thirty (83.3%) of 36 patients are free of disabling seizures (Engel class I) and 19 (63,4%) of them are classified as Engel Ia. In 17 (47.2%) patients, ASM could be discontinued. The mean age at surgery was 8.6 years (±4.04) and the mean age at onset of epilepsy was 7.2 years (±3.8), whereas the mean duration of epilepsy in months at the time of surgery was 21.3 months (±23.7). The epileptogenic tumor was in the temporal lobe in 20 (55.5%) patients. Because of seizure persistence, a second or a third surgery was necessary for six patients (16.7%) and four of them had residual lesions (three in temporal and one in extratemporal site). No perioperative complications were recorded, including acute seizures, with a median hospitalization time of 7 days. Shorter epilepsy duration at time of surgery as long as a single ASM was significantly correlated with an Engel class I outcome (p-value = .01 and p-value = .016, respectively). Focal seizure semeiology was associated with an increased probability of antiseizure medication discontinuation (p-value = .042). SIGNIFICANCE: Our findings confirm that shorter epilepsy disease duration, monotherapy before surgery, and seizure semeiology are determinant factors for a positive seizure outcome and medication discontinuation, also with less invasive surgical approaches such as lesionectomies. However, considering the intrinsic multifactorial epileptogenic nature of LEATs, a tailored surgical approach should be considered to optimize clinical and seizure outcome, especially for lesions located in the temporal lobe.