Ulcerative Colitis and Atypical Hemolytic-Uremic Syndrome: An Unusual But Potentially Life-threatening Complication.

Hemolytic-uremic syndrome (HUS) is defined as the triad of nonimmune hemolytic anemia, thrombocytopenia, and acute renal failure, in which the underlying lesions are mediated by systemic thrombotic microangiopathy (TMA). The atypical HUS (aHUS) can be considered a subtype of HUS that is rare in childhood and has a worse prognosis. Recent findings have established that the TMA in aHUS are consequences of the disregulation of the complement activation, leading to endotelial damage mediated by the complement terminal pathway.1, 2 Likewise, previous research suggests an important role for the deregulation of the alternative complement cascade in the pathogenesis of inflammatory bowel disease (IBD).3, 4 We report the case of a patient with ulcerative colitis (UC) who developed aHUS during a flare-up of her chronic disease. This association is extremely infrequent and had been previously reported in only 1 patient.5.

Enucleation Caused by Fusarium Infection in a Child With Toxic Epidermal Necrolysis.

Fusarium species are a known cause of ocular infection that can produce local and/or systemic invasive fusariosis. Fusarium ocular infection can evolve to keratitis, endophthalmitis and, in extreme cases, ocular perforation. We report, for the first time in children, the case of a 5 year old girl diagnosed with toxic epidermal necrolysis who developed Fusarium ocular infection requiring ocular enucleation.

Seizure and developmental outcomes after hemispherectomy in children and adolescents with intractable epilepsy.

PURPOSE: The aim of this study is to describe a series of pediatric hemispherectomies, reviewing pathologic substrate, epilepsy characteristics and seizure outcome as well as developmental profiles, before and after surgery, in different domains. METHODS: Seventeen patients with full pre-surgical work-up, minimum follow-up of 12 months, and at least one post-surgical neuropsychological evaluation were selected. Three had Rasmussen encephalitis (RE), five hemispheric malformations of cortical development (MCD), and nine hemispheric vascular lesions. RESULTS: At latest follow-up, all patients with RE and 66.7 % of those with vascular lesions are in Engel's class I; in the latter group, pre-surgical independent contralateral EEG discharges statistically correlated with a worse seizure outcome. Patients with MCD showed the worst seizure outcome. Pre-surgical language transfer to the right hemisphere was confirmed in a boy with left RE, operated on at 6 years of age. Patients with MCD and vascular lesions already showed severe global developmental delay before surgery, which persists afterwards. A linear correlation was found between earlier age at surgery and better outcome in personal-social, gross motor, and adaptive domains, in the vascular lesions group. The case with highest cognitive improvement had continuous spike and wave during sleep on pre-surgical EEG. CONCLUSIONS: Pathologic substrate was the main factor related with seizure outcome. In children with MCD and vascular lesions, although developmental progression is apparent, significant post-surgical improvements are restricted by the severity of pre-surgical neuropsychological disturbances and a slow maturation. Early surgery assessment is recommended to enhance the possibilities for a better quality of life in terms of seizure control, as well as better autonomy and socialization.

Hepatic mesenchymal hamartoma in a neonate with a Bochdalek diaphragmatic hernia: a case report.

The Bochdalek diaphragmatic hernia (BDH) is a common birth defect that is associated with other congenital malformations. Hepatic mesenchymal hamartoma (HMH) is the second most common benign hepatic tumor in children. The association between BDH and HMH or ectopic hepatic tissue is uncommon. We report a case of a female newborn with a left BDH that at surgery was incidentally found to have a tumor of 3.5 cm in maximum dimension with a serous muscular membrane. The histopathological study revealed vascular-mesenchymal stroma with bile ducts entrapped and peripheral normal hepatic tissue. These findings correlate with the diagnosis of hepatic mesenchymal hamartoma (HMH) in ectopic hepatic tissue. Our objective is to report a case of a rare association between HMH and BDH as well as discuss its differential diagnosis.

Natural killer cells can exert a graft-vs-tumor effect in haploidentical stem cell transplantation for pediatric solid tumors.

Little progress has been made with regard to the survival of children with metastatic and refractory solid tumors. Preliminary data from haploidentical stem cell transplantation (haplo-SCT) suggested a clinically beneficial allograft-vs-tumor effect associated with natural killer cell (NK) donor-recipient mismatch. We hypothesized that interaction between activatory receptors on NK cells and their ligands on tumor cells could be also important. To evaluate the NK-cell-mediated allograft-vs-tumor effect, we conducted a pilot study of haplo-SCT on six children with refractory solid tumors. Our specific goal for this study was NKG2D-major histocompatibility complex class I-related chain A interaction. Tasks include specific immunoassays that support haplo-SCT in refractory solid tumors. Patients suffered from neuroblastoma (n = 1), Ewing sarcoma (n = 2), a desmoplastic tumor (n = 1), nasopharyngeal carcinoma (n = 1), and embryonal rhabdomyosarcoma (n = 1). Pretransplantation disease status showed progressive disease in 2 patients, partial remission in 2 patients, and complete remission in 2 patients. NK-cell mismatch was present in three donor-recipients. Ligands for NKG2D receptors, major histocompatibility complex class I-related chain A and UL16 binding protein 2 were overexpressed in six of six and four of six tumors, respectively. NK cells led early immune reconstitution. After haplo-SCT, three patients were in complete remission, one patient showed partial remission, and two patients were in stable disease. With a median follow-up of 14 months, three patients were alive and in complete remission, and three patients had died; two due to progressive disease and one of transplant-related toxicity. Blocking NKG2D-major histocompatibility complex class I-related chain A interaction in vitro reduced NK-cell cytotoxicity. Our preliminary results suggest a beneficial effect from haplo-SCT in refractory solid tumors.

Epilepsy surgery in children with developmental tumours.

We report our experience regarding evaluation, surgical treatment and outcomes in a population of 21 children with histopathologically confirmed developmental tumours [nine dysembryoplastic neuroepithelial tumours (DNET), ten gangliogliomas (GG) and two gangliocytomas (GC)] and related epilepsy, analyzing video-EEG, MRI and neuropsychological data, before and after surgery. Most children had focal epilepsy correlating well with lesion location. One patient had epileptic spasms and generalized discharges. Tumours were located in the temporal lobe in 13 patients. Mean age at surgery was 11.16 years. Postsurgical MRI showed residual tumour growth in one DNET. One child had a recurrent ganglioglioma with anaplastic transformation. At latest follow-up (mean 4.68 years) 95.2% of patients were seizure-free and no significant neuropsychological declines were observed. Evidence from our study suggests that, in this setting, surgery should be performed before criteria for refractory epilepsy are met, particularly in cases with early seizure onset, in order to optimize cognitive outcome.