Improving the quality of care in the molecular era for children and adolescents with medulloblastoma.

Purpose: Elevated mortality and morbidity rates persist in pediatric patients with medulloblastoma. We present a clinical audit of a real-world cohort of patients in search for pragmatic measures to improve their management and outcome.

Methods/patients: All pediatric patients with medulloblastoma treated between 2003 and 2016 at a Spanish reference center were reviewed.

Old drugs still work! Oral etoposide in a relapsed medulloblastoma.

Medulloblastoma is the most common malignant brain tumor in children. Approximately 30% of children with medulloblastoma will progress or relapse despite being treated. New therapies have been proposed in recent years, including high-dose chemotherapy, immunotherapy, and targeted therapy.

[Thickening of the pituitary stalk in children and adolescents with central diabetes insipidus: Causes and consequences].

Background: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pituitary and hypothalamus region in order to identify the aetiology and the development of associated hormonal deficiencies.

[Neuroimaging in epileptic encephalopathies in infants].

Magnetic resonance plays a vital role in the aetiological diagnosis of epileptic encephalopathies, since it is capable of identifying specific aetiological patterns or patterns which are suggestive of different conditions. We review the main magnetic resonance findings that are observed in symptomatic epileptic encephalopathies.

Superselective intracerebral catheterization for administration of oncolytic virotherapy in a case of diffuse intrinsic pontine glioma.

New therapies are needed to improve current results in diffuse intrinsic pontine glioma. We present here the initial experience of administering Celyvir, autologous mesenchymal stem cells infected with ICOVIR-5, an oncolytic adenovirus that selectively replicates in cancer cells, by means of superselective intra-arterial delivery, in a patient diagnosed of diffuse intrinsic pontine glioma. Feasibility, safety, and morbidity rates of the superselective catheterization technique are comparable with those of diagnostic angiography.

Neurofibromatosis type 1 associated with moyamoya syndrome in children.

Background: Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in asymptomatic children, accurate epidemiologic data are lacking. On follow-up, clinical and radiologic progression is often found in patients with moyamoya syndrome.

[Analysis of a series of cases with an initial diagnosis of acute disseminated encephalomyelitis over the period 2000-2010].

Introduction: Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease that essentially affects the white matter of the central nervous system. The diagnosis is based on clinical-imaging and developmental findings. Magnetic resonance imaging of the brain is the most useful diagnostic tool.

Rituximab in lymphomatoid granulomatosis.

Background: Lymphomatoid granulomatosis (LG) is an Epstein-Barr virus-associated, multisystemic disease that combines a granulomatous inflammatory process with lymphoproliferative potential. It is a rare disorder with a variable clinical presentation ranging from an indolent process to an aggressive B-cell lymphoma. Outcome is unpredictable, and a standard treatment has not yet been established.

[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases].

Introduction: Septo-optic dysplasia (SOD) is the variable combination of signs of dysgenesis of the midline of the brain, hypoplasia of the optic nerves and hypothalamus-pituitary dysfunction, which is sometimes associated with a varied spectrum of malformations of the cerebral cortex.

Aims: To describe the natural history and neuroimaging findings in a series of 20 diagnosed patients.

Patients And Methods: We review the epidemiological, clinical and neuroimaging characteristics of 20 consecutive patients diagnosed with SOD between January 1985 and January 2010.

Neuroimaging findings in patient series with mucopolysaccharidosis.

Introduction: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported.

Material And Methods: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome.

Malignant atrophic papulosis: a case report with severe visual and neurological impairment.

Malignant atrophic papulosis, or Degos' disease, is a severe systemic vasculopathy extremely rare in children. The skin, gastrointestinal tract, and central nervous system are most frequently affected. We report a 5-year-old girl with malignant atrophic papulosis who presented with widespread skin lesions from early infancy and severe visual and neurological impairment.

Cerebellum atrophy and development of a peripheral dysgraphia: a paediatric case.

Two types of dysgraphia may be distinguished: the core ones, which reflect damage to the linguistic orthographic routes, and the peripheral ones, produced by alterations in the selection or execution of graphic motor patterns. We report the case of an 8-year-old male child, who consulted specialists due to difficulties in writing, with a background of acute cerebellar swelling at the age of 4. The writing pattern he has developed shows characteristic errors of a peripheral dysgraphia.

A persistent epidural mass in a child with B-lineage ALL.

Epidural spinal cord compression as the initial presentation of acute lymphoblastic leukemia (ALL) is a rare and serious complication. Extramedullary disease is rarely reported in patients with ALL. The most common sites are bone, followed by soft tissue, skin and lymph nodes.

[Aneurysmatic bone cyst coexisting with osteosarcoma. Radiopathologic discussion].

Aneurysmatic bone cysts are benign lesions of unknown origin. It has been postulated that they might occur in reaction to trauma or to a primary benign (giant cell tumor, chondroblastoma, etc.) or malignant (osteosarcoma) bone tumor that results in local hemodynamic changes.

[Familial hemophagocytic lymphohistiocytosis: Neuroradiological findings].

Hemophagocytic lymphohistiocytosis (HL) is a rare syndrome, although more common in children, that may be underdiagnosed. The clinical presentation can be aggressive, and patients may rapidly develop lethal multiple organ failure..

Long bone florid reactive periostitis ossificans: a case in the distal femur mimicking osteosarcoma.

Florid reactive periostitis ossificans is a well-known benign lesion classically described in hands and feet which histopathological features can lead to a misdiagnosis of osteosarcoma. To the best of our knowledge, there is only one previous report of this lesion in a long bone. In this study we report a case of florid reactive periostitis ossificans located in the distal metaphysis of the left femur that histologically mimicked an osteosarcoma and discuss the differential diagnosis between these two entities to warn about a diagnostic pitfall.