Peroneal mononeuropathy and polyneuropathy in adolescents with Anorexia Nervosa: a case report and literature review.

Peroneal neuropathy and polyneuropathy are displayed with a variable percentage in subjects affected by eating disorders and in particular by anorexia nervosa. Actually, little is known on features of these complications during the paediatric age. We describe the case of a female adolescent with right peroneal palsy and subclinical polyneuropathy associated with anorexia nervosa (AN). We review previous research about peroneal mononeuropathy and polyneuropathy associated with AN, and we develop a diagnostic and therapeutic protocol to help clinicians recognize and treat these disorders.

Neuroimaging Changes in Menkes Disease, Part 2.

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration. Anecdotal findings in our large sample seem to provide interesting clues about the protean mechanisms of brain injury in this rare disease and further highlight the broad spectrum of MR imaging findings that might be expected while imaging a child with the suspicion of or a known diagnosis of Menkes disease.

[Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach]. / Le principali atassie cerebellari autosomiche dominanti a esordio in età pediatrica: aspetti fisiopatologici dei difetti dei canali del calcio e del potassio voltaggio dipendenti e aspetti clinico-terapeutici.

In infancy, the autosomal dominant inherited ataxias are severe neurological diseases, due to inherited mutations of ion channels. The main forms are: episodic ataxia type 1 (EA1), episodic ataxia type 2 (EA2), spinocerebellar ataxia type 6 (SCA6). EA1 is due to a mutation in KCNA1, the gene encoding human Kv1.1 on chromosome 12p13, which contributes as a subunit to the formation of potassium channels in motor nerve terminals and in many central nervous system neurones. To date, there are fifteen different mutations, which affect potassium channel's properties and lead to phenotypic variability and to different responses to therapy. EA2 can result from mutations in the CACNA1A gene, encoding calcium channels on chromosome 19p13.1 and widely distributed throughout the central nervous system. To date, associated with EA2, in the CACNA1A gene thirty different mutations have been described, resulting in altered or truncated protein products and, as a consequence, in nonfunctional calcium channels. There is phenotypic variability, also inside the same family, without correlation genotype-phenotype. SCA6 is a progressive neurodegenerative disease due to mutations of the CACNA1A gene. CACNA1A is responsible for both EA2 and SCA6. Nevertheless, the pathogenesis of the two diseases is different: SCA6 is associated with small expansion of a CAGn repeat, while EA2 is due to point mutations. Clinically, SCA6 is characterized by a slowly progressive development and by an inverse correlation between the number of repeats and the severity of the disease.

Transient chorea in a patient with type 1 diabetes may induce a reduction in insulin demand through increased spontaneous movements.

The importance of physical activity in the management of diabetes is well established. The effect of programmed exercise and measurable skeletal activities on diabetes has been variously studied. Chorea induces an increase in spontaneous movement. Its occurrence in a teenager with type 1 diabetes provides new insights into our knowledge of metabolic outcomes. In our patient, the reduction in daily insulin demand was linked to choreic movement: a 67% decrease in insulin supply was needed to avoid episodes of hypoglycaemia; moreover, improved metabolism (measured as glycated haemoglobin) was obtained. Since no dietary changes were made and clinical events (including fever, drugs, weight loss, voluntary physical activity, psychological opposition or refusal of treatment) interfering with metabolic control of diabetes occurred, it appeared that only increased physical movements due to chorea reduced the patient's insulin requirement. As spontaneous movements declined with healing, metabolic control was lost, requiring an increase in insulin dosage to restore it. This article sheds additional light on our current understanding of hypoglycaemia and the variability of exogenous insulin demand in childhood and adolescent diabetes, when there are spontaneous movements and play. This finding highlights the importance of movement in type 1 diabetes.

Stimulation of endothelial cell migration by vascular permeability factor/vascular endothelial growth factor through cooperative mechanisms involving the alphavbeta3 integrin, osteopontin, and thrombin.

We have identified several mechanisms by which the angiogenic cytokine vascular permeability factor/vascular endothelial growth factor (VPF/VEGF) likely regulates endothelial cells (EC) migration. VPF/VEGF induced dermal microvascular EC expression of mRNAs encoding the alphav and beta3 integrin subunits resulting in increased levels of the alphavbeta3 heterodimer at the cell surface, and VPF/VEGF also induced mRNA encoding osteopontin (OPN), an alphavbeta3 ligand. OPN promoted EC migration in vitro; and VPF/VEGF induction of alphavbeta3 was accompanied by increased EC migration toward OPN. Because thrombin cleavage of OPN results in substantial enhancement of OPN's adhesive properties, and because VPF/VEGF promotes increased microvascular permeability leading to activation of the extrinsic coagulation pathway, we also investigated whether VPF/VEGF facilitates thrombin cleavage of OPN in vivo. Consistent with this hypothesis, co-injection of VPF/VEGF together with OPN resulted in rapid cleavage of OPN by endogenous thrombin. Furthermore, in comparison with native OPN, thrombin-cleaved OPN stimulated a greater rate of EC migration in vitro, which was additive to the increased migration associated with induction of alpha v beta 3. Thus, these data demonstrate cooperative mechanisms for VPF/VEGF regulation of EC migration involving the alphavbeta3 integrin, the alphavbeta3 ligand OPN, and thrombin cleavage of OPN. These findings also illustrate an operational link between VPF/VEGF induction of EC gene expression and VPF/VEGF enhancement of microvascular permeability, suggesting that these distinct biological activities may act accordingly to stimulate EC migration during angiogenesis.

IgG2 deficiency in children with febrile convulsions: a familial study.

The IgG subclasses were investigated in children with febrile convulsions (FC) and in their first degree relatives in the search for a selective immunological deficiency associated with FC and its occurrence in the relatives of affected subjects. The results of the study show lower IgG2 concentrations in FC patients than in controls. But it was not possible to demonstrate familial transmission of the IgG2 subclass deficiency, since it was present only in children with FC and tended to normalize in adulthood. The immunoglobulin subclass deficiency might be responsible for the recurrent infections connected with FC.

Effects of carbamazepine and valproate on immunological assessment in young epileptic patients.

Serum immunoglobulin levels and peripheral blood lymphocyte subsets were determined in 25 epileptic children treated with anticonvulsant drugs [carbamazepine (CBZ) or sodium valproate (VPA)], 17 untreated patients and 18 healthy subjects. The treated and untreated patients did not differ significantly from the controls with respect to the mean IgA, IgG, IgM values or lymphocyte subsets. The patients on carbamazepine had lower serum concentrations of IgG (though not significantly lower) than the untreated patients and children on valproate. OKT8 subset, in absolute terms and as a percentage of total lymphocytes, was significantly higher in generalized than in partial epilepsy, but this was probably due to the antiepileptic treatment. We found a sex difference in serum immunoglobulins (Ig M, IgG) in the epileptic group. Our data do not seem to argue for major changes in immune status related to clinical type of epilepsy or to VPA or CBZ treatment.

Lymphocyte subsets in schizophrenic disorders. Relationship with clinical, neuromorphological and treatment variables.

Peripheral blood lymphocyte subsets and serum immunoglobulin levels were assessed in 42 patients and 37 healthy controls. 24 patients were free from neuroleptic medication and 15 had never been treated with neuroleptics. 31 patients had a diagnosis of schizophrenia (DSM-III criteria) and 11 a diagnosis of a disorder of the schizophrenic spectrum. As compared to healthy subjects, the drug naive schizophrenic patient group showed an increase of T suppressor lymphocytes, while the drug-treated schizophrenic group showed an increase of T helper lymphocytes. The drug-treated schizophrenic group differed from the drug naive one relative to a decrease of T suppressor lymphocytes. As compared to healthy subjects, the drug naive spectrum disorder patients showed an increase of absolute number of lymphocytes, while the drug treated spectrum group showed an increase of B lymphocytes. These findings did not correlate with any clinical or neuromorphological variables taken into account.

Circulating levels of catecholamines and cyclic AMP during the handgrip test in borderline hypertension.

Systolic and diastolic blood pressure, heart rate, and circulating levels of catecholamines and cyclic AMP were measured during the handgrip test in 18 borderline hypertensive patients, 22 stable hypertensive patients, and 20 normotensive control subjects. No difference was observed, at rest, for plasma levels of noradrenaline, adrenaline, dopamine, and cyclic AMP among the three groups. During the handgrip test in borderline hypertensive patients, the percentage of increase of plasma levels of noradrenaline, adrenaline, dopamine, and cyclic AMP were significantly more elevated with respect to the levels of control subjects but not when compared with those of stable hypertensive patients. These results are in agreement with the hypothesis that in both borderline and stable hypertension there is an exaggerated sympathetic response to the handgrip test.