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Purpose: Pervasive refusal syndrome (PRS) is a rare psychiatric disease that affects children. It was first described by Lask in 1991 (Arch Dis Child 66:866–869, 1991). Recently, Otasowie and Collaborators reported a systematic review about PRS. Despite this, PRS has not yet been classified in DSM-5 and ICD-11 and the lack of evidence-based treatment makes this syndrome a real challenge for clinicians. The aim of this paper is to present our experience through the description of a case report and its treatment. Methods and results: The case reported is a girl aged 11 years that fits the clinical picture described in the literature of PRS. In previous reports, behavioural treatment was not used or appreciated; our case adds new knowledge regarding the PRS diagnosis and the successful behavioural treatment during hospitalization, which we describe in all its phases. Conclusion: PRS is a rare, life-threatening syndrome; it would be extremely important to have an official and evidence-based treatment guide. Level of evidence: Level V, case report.

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by progressive cerebellar atrophy. Prior to the discovery of mutations in the PLA2G6 gene in family with INAD, the clinical diagnosis of the disease had been confirmed by the presence of spheroid bodies (SB) in a peripheral nerve biopsy. Various studies have found that some patients with mutations lacked SB and some without mutations had SB, indicating incomplete detection using either pathologic or molecular methods 7. This, together with the observation that the spectrum of clinical features associated with mutations in PLA2G6 is broader than previously described, has increased the usefulness of Magnetic Resonance (MR) in INAD diagnosis, particularly in the frequent occurrence of atypical cases, especially in the early stages of the disease. We retrospectively reviewed the MR studies of eight patients in whom clinical and imaging onset met the typical criteria for INAD. Their clinical and MR imaging (MRI) onset and follow-up were evaluated together with the neuroradiological findings reported in the literature in order to identify MRI features useful in differentiating INAD from other diseases with similar clinical onset and to discuss which of them are the most important, thus suggesting INAD diagnosis. Our contribution included the use of Proton Spectroscopy (1H-MR), diffusion weighted MR imaging (DWI) and diffusion tensor imaging (DTI) in the follow-up of seven of the eight patients. The literature reviewed included attempts to correlate clinical and MR data with the genotype in the group of patients carrying PLA2G6 mutations. From the limited and inhomogeneous cohort of patients included in our study, a correlation between the MR features, phenotype and genotype was not exhaustive.

The aim of this study, which was carried out because of the importance of eating disorders (EDs) acquired by the young and the need to organise resources and interventions for patients and their families, was to quantify the increased incidence of EDs arising early in life in order to identify the nosographic classification that best reflects the complexity of the symptoms. Between 2003 and 2008, we assessed 128 subjects aged less than 14 years and observed a constant increase in ED-related problems. Our analysis shows the importance of representative classification criteria suitable for young patients in order to improve diagnosis and therapeutic planning. The need for a specific classification for early childhood is underlined by the fact that comorbidities and overlapping patterns often complicate adequate assessment.

Subcortical band heterotopia (SBH, or double cortex syndrome) is a neuronal migration disorder consisting of heterotopic bands of gray matter located between the cortex and the ventricular surface, with or without concomitant pachygyria. Most cases show diffuse or anteriorly predominant (A>P) migration abnormality. All familial and 53% to 84% of sporadic cases with diffuse or A>P SBH harbor a mutation of the DCXgene, leaving the genetic causes unexplained, and genetic counseling problematic, in the remaining patients. Our purpose was to verify the extent to which exonic deletions or duplications of the DCXgene would account for sporadic SBH with A>P gradient but normal gene sequencing.

Previous studies indicate that patients with eating disorders have alexithymic characteristics, as revealed by the Toronto Alexithymia Scale (TAS). The aim of the present study was to investigate the role of negative affect (anxiety and depression) in the relationship between eating disorders and alexithymia. In addition, we have evaluated whether the relationship between negative affect and alexithymia varies according to the type of eating disorder (anorexia and bulimia). Eighteen female patients and 16 female patients who met the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) diagnostic criteria for restrictive anorexia nervosa and bulimia nervosa, respectively, and 18 healthy female controls matched by age and education were submitted to Beck Depression Inventory and Spielberger State-Trait Anxiety Inventory to assess depression and anxiety and the Toronto Alexithymia Scale (TAS-20) and the Bermond Vorst Alexithymia Questionnaire (BVAQ) to evaluate alexithymic characteristics. The findings indicated that, although anorexic and bulimic patients showed higher alexithymia scores compared to controls, this result could be mainly related to negative affect. In fact, taking negative affect into account, anorexic and bulimic patients did not show higher TAS-20 and BVAQ scores compared to controls. The only variable useful to discriminate among anorexics, bulimics and controls is the perceived inability to experience emotional feelings, which is higher in anorexic patients compared to the other two groups.

VEPs were examined in ALL patients in order to test their usefulness in the detection of early and late CNS changes due to combined cranial X-irradiation and chemotherapy.

A study of VPA based on a comparison of mean plasma levels, plasma peak latency times and plasma half-lives after rectal and oral administration was conducted in 9 children between 6 months and 10 years of age suffering from various forms of epileptic seizure, before they received chronic VPA treatment. Each child received an oral dose of 20 mg/kg and after two days a rectal dose of 20 mg/kg and the mean plasma concentrations were determined at intervals for both modes of administration. An identical plasma concentration for both after 24 h showed that the quantity of drug absorbed was the same. The mean half-life varied according to age: 11 ± 2 h for children over 3 years of age and 9 ± 1 h for those under 3. The results of the study, in line with the few other available published data, thus confirm the validity of rectal VPA administration.

Report of two cases of Behçet syndrome in children, one with the features of a neuro-Behçet syndrome and the other with chiefly severe ocular changes. Both children were treated with transfer factor when previous treatment had proved ineffective. Some years after the beginning of treatment, which is still continuing, transfer factor may be said to be of value in Behçet syndrome.

EEG studies have been carried out on 17 children aged between 4 months and 3 years, with subsequently verified medulloblastoma. No abnormalities were seen in 2 cases, while a moderate generalised abnormality was found in 7 patients. In the other cases, posterior 1 to 4 per second slow activity often of high amplitude, was the commonest finding, being irregular in 5 cases and rhythmic in 2. No relationship was observed between asymmetries of EEG activities and the size or site of the tumour. None of the 17 children had seizures.

We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course was both chronic-progressive and episodic. There were episodes of deterioration following infections and minor head traumas, and these could result in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involvement of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known.

The authors describe the so-called benign convulsions of infancy and confirm the existence of benign nonfamilial infantile convulsions during the first 2 years of life and their benign course. The authors evaluated 58 patients: 17 subjects had a family history of benign epilepsy, and 41 did not. No clinical differences were observed between the two groups.

A case of infantile Krabbe's disease was first recognised as areas of relatively increased density on CT in the thalamus lateral geniculate body and dentate nucleus. These sites were subsequently shown on MRI to have a paramagnetic effect, being characterised by short T2 and T1. Subsequent examinations showed development of atrophy and high signal in white matter.