PURPOSE:Urological management of Cloacal Malformation (CM) focuses on preserving renal function and continence. Study aim was to analyze urinary and intestinal outcomes in CM patients, considering the length of common channel (CC) and presence of occult spinal dysraphism (OSD). METHODS:Retrospective review of CM treated at our institution by a multidisciplinary team from 1999 to 2020. Patients with follow-up < 2.5 years were excluded. Length of CC, renal function, urinary and bowel outcomes, presence of associated anomalies (especially OSD) were evaluated. RESULTS:Twenty patients were included, median age at follow-up: 8 years (4-15). A long CC > 3 cm was described in 11 (55%). Chronic kidney disease was found in 3 patients. Urinary continence was achieved in 8/20 patients, dryness (with intermittent catheterization) in 9/20. Fecal continence was obtained in 3/20, cleanliness in 14 (under bowel regimen). OSD was present in 10 patients (higher prevalence in long-CC, 73%). Among OSD, 1 patient reached fecal continence, 7 were clean; 2 achieved urinary continence, while 6 were dry. CONCLUSIONS:Length of CC and OSD may affect urinary and fecal continence. An early counseling can improve outcome at long-term follow-up. Multidisciplinary management with patient centralization in high grade institutions is recommended to achieve better results.

Background:Tumors of the pre-sacral and sacral spaces are a rare occurrence in children. Total tumor excision is required due to the significant risk of relapse in the event of partial surgery, but the surgical procedure may lead to postoperative problems such as urinary, sexual, and anorectal dysfunctions. Intraoperative neuromonitoring (IONM) has gained popularity in recent years as a strategy for preventing the onset of neurologic impairments by combining several neurophysiological techniques. The aim of our study is to describe the experience of Bambino Gesù Children's Hospital in the use of IONM in pediatric pelvic surgery.Materials and Methods:The data of patients treated for pelvic malignancies at Bambino Gesù Children's Hospital from 2015 to 2019 were retrospectively collected. All patients were assessed from a neurologic and neuro-urologic point of view at different time-points (before and immediately after surgery, after 6 months, and 1-year follow-up). They were all monitored during a surgical procedure using multimodal IONM including transcranial motor evoked potentials (TcMEP), triggered-EMG (t-EMG), pudendal somatosensory evoked potentials (PSSEP), and bulbocavernosus reflex (BCR).Results:During the study period, ten children underwent pelvic tumor removal at our Institution. In all cases, intraoperative neurophysiological recordings were stable and feasible. The preservation of neurophysiological response at the same intensity during surgical procedures correlated with no new deficits for all neurophysiological techniques.Discussion:Although the impact of the IONM on surgical strategies and clinical follow-up is unknown, this preliminary experience suggests that the appropriate use of several neurophysiological techniques can influence both the radicality of pelvic tumor removal and the neurological and urological outcome at clinical follow-up. Finally, because of the highly complex anatomy and inter-individual variances, this is especially useful in this type of surgery.

AimsPaediatric low‐grade gliomas (pLGGs) are a heterogeneous group of brain tumours associated with a high overall survival: however, they are prone to recur and supratentorial lesions are difficult to resect, being associated with high percentage of disease recurrence. Our aim was to shed light on the biology of pLGGs.MethodsWe performed microRNA profiling on 45 fresh‐frozen grade I tumour samples of various histological classes, resected from patients aged ≤16 years. We identified 93 microRNAs specifically dysregulated in tumours as compared to non‐neoplastic brain tissue. Pathway analysis of the microRNAs signature revealed PI3K/AKT signalling as one of the centrally enriched oncogenic signalling. To date, activation of the PI3K/AKT pathway in pLGGs has been reported, although activation mechanisms have not been fully investigated yet.ResultsOne of the most markedly down‐regulated microRNAs in our supratentorial pLGGs cohort was miR‐139‐5p, whose targets include the gene encoding the PI3K's (phosphatidylinositol 3‐kinase) catalytic unit, PIK3CA. We investigated the role of miR‐139‐5p in regulating PI3K/AKT signalling by the use of human cell cultures derived from supratentorial pLGGs. MiR‐139‐5p overexpression inhibited pLGG cell proliferation and decreased the phosphorylation of PI3K target AKT and phosphorylated‐p70 S6 kinase (p‐p70 S6K), a hallmark of PI3K/AKT/mTORC1 signalling activation. The effect of miR‐139‐5p was mediated by PI3K inhibition, as suggested by the decrease in proliferation and phosphorylation of AKT and p70 S6K after treatment with the direct PI3K inhibitor LY294002.ConclusionsThese findings provide the first evidence that down‐regulation of miR‐139‐5p in supratentorial pLGG drives cell proliferation by derepressing PI3K/AKT signalling.

Preoperative evaluation, by means of intracerebral electrodes, in patients presenting with symptomatic drug resistant epilepsy, provides an opportunity to explore neural generators of P300, Mismatch Negativity (MMN) and also N140. We studied 5 pediatric patients with drug resistant epilepsy. ERPs and SEPs (to median and tibial nerve stimulation) were recorded from the intracerebral electrode contacts referred to the earlobe ipsilateral to the stimulation. P300 was recorded by electrodes located in hippocampus with a clear inversion of signals in posterior hippocampus; MMN was also well recorded by electrodes placed in opercular-insular cortex without a clear inversion of signal; N140, increased in amplitude during attention condition, showed the maximum amplitude in the frontal electrode contacts and in the opercular-insular traces. Numerous investigations revealed that generators of Event Related Potentials are independent and also with a cortical-subcortical distribution. In this short case series, we could show some brain areas clearly involved in the generation of P300, MMN and N140 components.

Other Authors: M. Rollo, P. Toma', G.S. Colafati, G. Esposito, A. Cosi, P. Martelli, L. Giordano, F. Causin, E. Lafe, F. Zappoli, S.M. Bova, T. Foiadelli, G. Sanfilippo, L. Grazian, L. De Carlo, A. Spalice. Objective: To characterize moyamoya (MM) phenomenon, including both moyamoya disease (MMD; isolated moyamoya) and moyamoya syndrome (MMS; moyamoya associated with another condition) in a nationwide pediatric cohort. Methods: Retrospective chart and radiological review of children with MM referred to Italian centers belonging to the Italian Society of Pediatric Neurology. Results: 39 patients from 15 centers were included (51% males). Race: white in 33, Asian in 4, African in 1. 17 patients had MMD, 22 MMS. Among MMD patients, 17/17 were symptomatic at diagnosis. Mean age at onset was 4.2 years (range 0.5–10 years; 35% < 2 years). Mean time from onset to diagnosis was 13 months. Symptoms at diagnosis: 15 ischemic events, 3 seizures, 5 headache, 1 movement disorder (10/17 > 1 symptom). 5/17 patients had posterior involvement. At follow-up, 5 had radiological disease progression; 13/17 underwent neurosurgery; 12/17 had neurological impairments (5 cognitive, 4 motor, 3 both). Among MMS patients (etiologies: genetic, infectious, hematologic, endocrine disorders, radiotherapy), 17/22 were symptomatic at diagnosis. Mean age at onset was 4.7 years (range 1.2–14.6; 40% < 2 years), mean time from onset to diagnosis was 2.5 years, symptoms at diagnosis: 15 ischemic events (12 stroke), 6 focal seizures, 1 headache, 1 movement disorder (12/17 more than 1 symptom). Posterior involvement in 7/20. At follow-up (21/22), 6 had radiological disease progression, 15/21 underwent neurosurgery, and 15/21 had neurological impairment (7 severe multifactorial deficits). Conclusion: Compared with other pediatric series, our cohort is characterized by lower age at onset, and minor diagnostic delay. Age and symptoms at onset, acute and chronic morbidity are similar in MMD and MMS. Probably due to the effect of the associated condition, patients with MMS present a greater proportion of severe deficits at follow-up.

Preoperative evaluation, by means of intracerebral electrodes, provides an opportunity to explore neural generators of ERPs and also N140 (a long latency SEP that is modulated by attention manipulations). We studied 5 pediatric patients with drug resistant epilepsy. ERPs and SEPs (to median and tibial nerve stimulation) were recorded from the intracerebral electrode contacts referred to the earlobe ipsilateral to the stimulation. The analysis was addressed to the electrode contacts where an inversion of neurophysiological component polarity was observed, or where the EP amplitude was higher. P300 was recorded by electrodes located in hippocampus; MMN was also well recorded by electrodes placed in opercular-insular cortex; N140, increased in amplitude during attention condition, showed the maximum amplitude in the frontal electrode contacts and in the opercular-insular traces. Numerous investigations revealed that generators of ERPS are independent and with a cortical-subcortical distribution too. In this short case series, we could show some brain areas clearly involved in the generation of P300, MMN and N140 components.

Preoperative evaluation, by means of intracerebral electrodes, in patients presenting with symptomatic drug resistant epilepsy, provides an opportunity to explore the S1 area in depth. We studied 7 pediatric patients with drug resistant epilepsy. Intracerebral electrodes were implanted in frontal, temporal and parietal lobes at different sites, depending on seizure types. SEPs were recorded to median and tibial nerve stimulation from the intracerebral electrode contacts referred to the earlobe ipsilateral to the stimulation. The analysis was addressed to the electrode contacts where an inversion of SEP component polarity was observed. A part from the median nerve N20 origin from the anterior bank of the postcentral gyrus, in 3 patients having electrode contacts close to medial surface of the parietal lobe, an inversion of polarity of the tibial nerve P40 component was observed. This is the first study demonstrating the origin of the tibial nerve P40 component from the medial surface of the S1 area by using intracerebral SEP recording.