Pervasive refusal syndrome or anorexia nervosa: a case report with a successful behavioural treatment.

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.

Preliminary report on effects of oxcarbazepine-treatment on serum lipid levels in children.

The aim of the present study was to assess serum lipid levels before and after treatment with oxcarbazepine (OXC) in children with epilepsy. We measured total cholesterol (TC), triglycerides (TGs) and high-density lipoprotein cholesterol (HDL-C) in 28 patients whereas only TC levels in 11 patients, during baseline period and at 3 months after the beginning of therapy with OXC. During baseline period, median values were: 4.38 mmol/l (IQR = 4.12-5.03) for TC levels, 1.72 mmol/l (IQR = 1.42-2.01) for HDL-C levels and 1.54 mmol/l (IQR = 1.29-1.96) for TGs levels. At 3 months, median values were: 4.38 mmol/l (4.10-4.95) for TC levels (P < 0.05), 1.57 mmol/l (1.34-1.93) for HDL-C levels (P < 0.005) and 1.8 mmol/l (1.23-2.34) for TGs levels (P < 0.05). Median serum lipid levels remained in the normal range, despite an increasing-trend at 3 months of treatment with OXC. Further studies are necessary to confirm these results.

Open prospective study on oxcarbazepine in epilepsy in children: a preliminary report.

PURPOSE: To evaluate the long-term efficacy, tolerability, and safety of oxcarbazepine (OXC) in children with epilepsy. METHODS: We enrolled 36 patients (median age 7.75) with new diagnosis of partial epilepsy in an open prospective study. All type of epilepsy were included: 25 patients were affected by idiopathic epilepsy, eight by symptomatic epilepsy and three by cryptogenic epilepsy. Patients were then scheduled to come back for controls at 3 months (T1), 12 months (T2) and 24 months (T3) after the beginning of OXC-monotherapy (T0). At each control we evaluated patients through their seizure diary, a questionnaire on side effects, their level of 10-monohydroxy (MHD) metabolite and laboratory analysis. RESULTS: At T1, 21/36 patients (58.3%) were seizure-free, 3/36 patients (8.3%) showed an improvement higher than 50%, 3/36 (8.3%) lower than 50%, while 2/36 worsened (5.6%). In 7/36 (19.5%) patients, no improvement was reported. At T2 13/18 patients (72.2%) were seizure-free, 1/18 showed a response to therapy higher than 50% while 2/18 worsened (11%). In two patients no improvement was reported. A correspondence between MHD plasmatic levels and clinical response (r=0.49; p<0.05) was only registered at T1. An EEG normalization was observed in 25% of cases. Side effects were reported in 25% of cases, but symptoms progressively disappeared at follow-up. CONCLUSIONS: We can therefore conclude that OXC can be considered, for its efficacy and safety, as a first line drug in children with epilepsy.

Clinical features of benign infantile convulsions: familial and sporadic cases.

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.

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

Linkage analysis was performed in a previously described family segregating for an X-linked progressive neurological disorder [Bertini et al., 1992]. In three generations, the disease was inherited from the mothers in seven affected males (Fig. 1). Five had severe congenital hypotonia and died during the first year of life. Two other boys (maternal cousins) were found to have severe congenital ataxia, late-onset progressive myoclonic encephalopathy, and selective macular degeneration; brain CT-scan showed moderate cerebellar vermis hypoplasia. Linkage analysis was carried out in 12 informative relatives using 35 microsatellite markers (Généthon) evenly distributed on the X chromosome. A multipoint analysis showed a significant linkage (Z > 2) between the disease and three markers in the Xp22.33 region: DYS403 (Z = 2.37, theta = 0) which maps in the pseudoautosomal region, DXS7099 (Z = 2.45, theta = 0), and DXS7100 (Z = 2.48, theta = 0). Further linkage analysis with more telomeric markers will refine the location of this severe X-linked encephalopathy.