Carmela Salladini

Diabetic neuropathy in children and adolescents

Abstract:  Diabetic neuropathy (DN) represents a major complication of type 1 diabetes mellitus (T1DM) but there is considerable uncertainty as to its incidence, prevalence, diagnosis and prognosis in pediatric population.

Ictal cardiorespiratory arrest in Panayiotopoulos syndrome

Panayiotopoulos syndrome (PS) is a syndrome of childhood susceptibility to benign autonomic seizures and affects approximately 6% of children with nonfebrile seizures.1–4 The clinical features are infrequent, often single, focal seizures comprising autonomic symptoms; behavioral changes; and other ictal clinical manifestations. Half of the seizures progress to become generalized; two thirds occur during sleep. The seizures can last 5 to 15 minutes, but some are prolonged, lasting hours, constituting autonomic status epilepticus (ASE).5 Even after severe seizures, the patient recovers within a few hours. Prognosis is excellent. Remission usually occurs within 1 to 2 years from onset. EEG is characterized by multifocal spikes that predominate in the posterior regions.4,6 Ictal EEG shows frontal or posterior onset.4,5,7 Ictus emeticus (nausea, …

Anticonvulsant hypersensitivity syndrome in children: incidence, prevention and management.

Anticonvulsant hypersensitivity syndrome (AHS) is a rare, but potentially fatal, adverse reaction that occurs in patients, including children, who are treated with anticonvulsants. During metabolism of the anticonvulsant, toxic arene-oxide compounds are produced. AHS is associated with both cutaneous and systemic symptoms and is associated with multiorgan involvement. Liver damage, in particular, seems to be associated with fatal outcomes.The pathophysiology of AHS is still uncertain but it may be linked to a genetically determined inability to detoxify reactive drug metabolites.The prompt recognition of the first clinical signs of AHS, and the rapid withdrawal of the anticonvulsant, often avoids the progression of symptoms.Pharmacological treatment is essentially based on systemic corticosteroids in association with enterai nutrition, intravenous fluid augmentation, pain relief and ocular care. Intravenous immunoglobulins may also have a possible therapeutic role in some cases. Diagnostic tests, such as patch tests or in vitro assays, for AHS could help to identify patients at risk of developing the syndrome and could represent a first step of primary prevention when applied to relatives of patients.

Photosensitivity and epilepsy.

Photosensitive epilepsy is a well-known condition characterized by seizures in patients who show photoparoxysmal responses on electroencephalography (EEG) elicited by intermittent photic stimulation. Photoparoxysmal responses can be defined as epileptiform EEG responses to intermittent photic stimulation or to other visual stimuli of everyday life and are frequently found in nonepileptic children. The modern technologic environment has led to a dramatic increase in exposure to potential trigger stimuli; nowadays, television and video games are among the most common triggers in daily life. There is ample evidence for genetic transmission of photoparoxysmal responses; systematic family studies have provided data for an autosomal dominant mode of inheritance with age-dependent penetrance for photosensitivity. The age of maximum penetrance is between 5 and 15 years. The prognosis for control of seizures induced by visual stimulation is generally very good. The large majority of patients do not need anticonvulsant therapy, but, when needed, the drug of choice is valproate. Stimulus avoidance and stimulus modification can be an effective treatment in some patients and can sometimes be combined with antiepileptic drug treatment. (J Child Neurol 2004;19:571-578).

Photosensitivity and epilepsy: a follow-up study

To understand the evolution of photosensitivity and to evaluate if its disappearance is related to the response to anticonvulsant therapy, we performed a long‐term study of 42 patients (17 males, 25 females; age at onset 6 years 9 months, SD 5 years 2 months, range 5 years to 12 years 1 month) who had electroencephalography (EEG) evidence of photosensitive epilepsy. Of the patients, 36 were treated with valproate (VPA) monotherapy and four received VPA in combination with other antiepileptic drugs (AEDs), which were carbamazepine and lamotrigine. Two patients were given no drugs, but treated with stimuli avoidance. All patients were investigated with EEG by using intermittent photic stimulation. The photoparoxysmal response indicated the presence of photosensitivity. At the end of follow‐up, the photoparoxysmal response had disappeared in 25 patients. Thirty‐three patients became seizure‐free. Our study confirms that photosensitive epilepsy has a good prognosis for seizure control that is independent of the persistence or disappearance of photosensitivity.

Risk factors for recurrence of epilepsy and withdrawal of antiepileptic therapy: a practical approach

In epileptic patients, treated with anticonvulsant drugs (AEDs), the question when and how an attempt should be made to withdraw therapy is a crucial point in the management of these patients. In recent years, many studies have identified the main risk factors for seizure recurrence after discontinuation of AEDs. Patients are more likely to have recurrences if there is a definite symptomatic aetiology, two or more different types of seizures, an abnormal neurological examination and a seizure onset at adolescence or later. In contrast, abnormal EEG has not been proved as a risk factor for recurrence. Moreover, the classification of epilepsy syndromes is another important predictor of the outcome for these patients. In practice, most authors suggest that medication is discontinued after a seizure-free period of two years. In this review we analyse data from the literature and we suggest a practical approach for safe anticonvulsant withdrawal, although the decision should always be made individually, weighing risks and benefits.

Extended-Release Formulations in Epilepsy

In the past years, the extended-release antiepileptic drug formulations have been developed and then approved for the treatment of many types of epilepsy. Among these extended-release formulations of antiepileptic drugs, the main drugs are valproic acid, carbamazepine, and phenytoin. This review analyzes the chemical and structural characteristics of the extended-release formulations of these 3 antiepileptic drugs, analyzing their bioequivalence and the studies about their clinical use. The results of these studies are encouraging and suggest a good tolerability and efficacy of these extended-release formulations, although larger studies are needed.

Preventing microvascular diabetic complications in children and adolescents: looking beyond glycaemic control.

Type 1 diabetes mellitus is associated with the development of micro- and macrovascular disease, and diabetic angiopathy in children and adolescents. It is represented mainly by microangiopathy, characterised by structural changes in the eye, renal glomeruli and peripheral nerves. The pathogenesis of the vascular complications of diabetes is controversial, but without any doubt, endothelial dysfunction play an important role in the pathogenesis of glomerulosclerosis and atherosclerosis. Preventive strategies for these three major complications are discussed in this review. Appropriate surveillance for the earliest evidence of microvascular disease should begin at the onset of puberty, and after 3 – 5 years of diabetes. Therapeutic interventions, particularly excellent metabolic control, may be almost effective in preventing complication onset, or significantly retarding the rate of progression.

Genital swelling in an adolescent patient

A 16-year-old-boy was referred to the Department of Pediatrics, University of Chieti, Italy, with a 2-month history of persistent, asymptomatic, painless penile and scrotal swelling. His medical history was relevant for diarrhea over the preceding 2 months, associated with hemorrhoids,minimal bowel bleeding andweight loss.On physical examination, the penis and scrotum were tender, edematous and showed a slight erythematous hue. There were no evidence of trauma; skin tags or ulcerations were absent; no inguinal lymphadenopathy was recognized (Fig. 1). Results of repeated serological tests for syphilis or other venereal diseases were negative. Results of urethral special stains, including Ziehl–Neelsen, periodic acid–Schiff andGram, revealed nomicroorganisms. Viral cultures and serology for Chlamydia spp., Mycoplasma spp., Toxoplasma spp., and Epstein–Barr virus were negative. Tuberculin skin test was non-reactive. Laboratory studies did not reveal evidence of systemic disease; serology for systemic lupus erythematosus and other autobodies was negative. Behçet’s disease was excluded because of the absence of clinical criteria and negativity of pathergy test. Chest X-ray was normal and did not reveal evidence of sarcoidosis. Skin examination revealed chronic lymphedema of the genitalia. Ultrasound of the penis and scrotum showed no abnormalities. Abdominal computed tomography (CT) showed no evidence of abdominal mass or retroperitoneal lymphadenopathy. Full blood count, routine laboratory investigation and urine examination were within normal limits. Abnormal laboratory values included only erythrocyte sedimentation rate 13 mm/h (normal values 0–12 mm/h), C-reactive protein 1.96 mg/dl (normal values 0.00–0.50 mg/dl) and a persistent positive test for fecal occult blood. Because of the presence of perianal fissures, cutaneous genital and perianal biopsies were performed.

Discontinuation of Anticonvulsant Therapy and the Electroencephalogram

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