[Grisel's syndrome causing torticollis in children].

This is a case report of an eight-year-old boy with CT-confirmed changes bringing attention to Grisel's syndrome as a differential diagnosis to torticollis. The syndrome - also known as atlantoaxial subluxation - is a complication to operations or infections in the ear, nose and throat region. It usually presents as a slightly flexed and rotated neck, and characteristic radiographic findings.

[Narcolepsy in a seven-year-old girl].

Narcolepsy is a life-long disease commonly diagnosed in adults. Although the first symptoms often appear during childhood, paediatric narcolepsy is often underrecognised and underdiagnosed. The presentation can be very variable, this making diagnosis difficult.

[Arteriovenous malformation as a cause of intracerebral haemorrhage in a 13 year-old girl].

Spontaneous intracranial haemorrhages in children are rare. The leading cause of spontaneous bleeding is a rupture of arteriovenous malformations (AVM). This case study presents a 13 year-old girl with headache and slightly altered mental status due to bleeding from an unknown cerebral AVM.

[Aicardi syndrome as cause of severe epilepsy and mental retardation].

Aicardi syndrome is a very rare disease. It is characterised by a triad of callosal agenesis, infantile spasms and chorioretinal lacunae. Other congenital defects of the eyes, ribs and vertebrae and other malformations also occur frequently.

[Moyamoya].

The disease moyamoya is rare in Europe, but it is seen more frequently in Japan and other Asian countries. Moyamoya is characterized by progressing occlusion of the cerebral arteries and secondary development of pathological collateral vessels induced by ischaemia. This case report describes a newly diagnosed patient with moyamoya, who was referred to a paediatric clinic because of headache and involuntary movements and sounds.

Autonomic nervous system function in infants and adolescents: impact of autonomic tests on heart rate variability.

Measurement of heart rate variability (HRV) shows information on the functional state of the autonomic nervous system (ANS). In adults there are standardized autonomic tests and well-established ranges of normal values, which is not the case in children. The aim of the present study was (1) to introduce an ANS test battery, especially for children and adolescents; (2) to establish normative HRV parameters; and (3) to determine the impact of ANS tests on HRV parameters compared with baseline measurements.

High incidence of vaproate-induced coagulation disorders in children receiving valproic acid: a prospective study.

Reports have been published on blood coagulation disturbances by valproate therapy. In the present prospective trial, blood samples were drawn before valproate therapy, after 6 weeks of therapy, after more than 6 weeks and after longer than 6 months of valproate therapy from 23 children newly treated with valproate. Two children developed thrombocytopenia, and six children with initial normal von Willebrand factor showed acquired von Willebrand's disease.

Vagus nerve stimulation improves severely impaired heart rate variability in a patient with Lennox-Gastaut-Syndrome.

Vagus nerve stimulation (VNS) is a new therapeutic option for refractory epilepsy. We report a patient with Lennox-Gastaut-Syndrome (LGS) and a severe impairment of heart rate variability (HRV), we could demonstrate in our patient that HRV was improved by VNS.

Reversible hepatotoxicity, pancreatitis, coagulation disorder and simultaneous bone marrow suppression with valproate in a 2-year-old girl.

Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies, including special epileptic syndromes like the WEST-syndrome. The drug is usually well tolerated; rare serious complications may occur in some patients, including haemorrhagic pancreatitis, coagulapathies, bone marrow suppression, VPA-induced hepatotoxicity and encephalopathy. We report a case of combined appearance of several severe VPA-associated side effects in a two- and a half-year-old girl with lissencephaly.

Valproic acid-induced pancreatitis: 16 new cases and a review of the literature.

Background: Acute pancreatitis is rarely seen in children, and, in contrast to cases in adults, it is often drug induced. One possible medication is the antiepileptic drug valproic acid (VPA), which is commonly prescribed for generalized and focal epilepsy, migraine, neuropathic pain, and bipolar disorder. The common side effects associated with VPA are typically benign, but less common but more serious adverse effects may occur.

Effects of valproate on acylcarnitines in children with epilepsy using ESI-MS/MS.

Purpose: To determine the influence of valproate (VPA) treatment on acylcarnitines in children with epilepsy.

Methods: Determination of acylcarnitines (including free carnitine and acylcarnitines from C2 to C18) in dried blood spot specimens using tandem-mass spectrometry. Longitudinal study of changes in acylcarnitines in children under VPA treatment without pretreatment (group 1) or with pretreatment with other antiepileptic drugs (group 2) before the start of VPA treatment at an early and a late treatment interval (12-66, 90-260 days after the beginning of treatment, respectively).

Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003.

Purpose: Valproic acid (VPA) is an antiepileptic drug (AED) commonly used for generalized and focal epilepsies. We provide an update on hepatotoxic side effects in Germany between 1994 and 2003.

Methods: We mailed a questionnaire to all members of the German Section of the International League Against Epilepsy, asking for VPA-induced side effects, especially severe side effects such as hepatopathy.

Oral rapid loading of valproic acid--an alternative to the usual saturation scheme?

Valproic acid (VPA) is considered to be a drug of first choice for the therapy of generalized and focal epilepsies. Due to its broad field of application and its good compatibility, VPA is one of the most frequently prescribed antiepileptic drugs (AED) worldwide. Previous studies have examined the safety and tolerability of rapid intravenous-loaded VPA in the treatment of epilepsy and status epilepticus, but rapid oral loading has not been evaluated in paediatrics systematically in the past.

Capillary microscopy and hemorheology in children during antiepileptic monotherapy with carbamazepine and valproate.

The interactions of epilepsy and antiepileptic therapy an one hand and cardiovascular system on the other hand are multiple and complex. Antiepileptic drugs (AEDs) cause alterations of serum lipids and of the fatty acid composition of the membranes. Homocystein, known to induce vascular endothelial damage was found to be elevated in patients on valproate (VPA) and carbamazepine (CBZ) therapy.

Valproate-associated coagulopathies are frequent and variable in children.

Purpose: Valproic acid (VPA) is an antiepileptic drug (AED) commonly used for generalized and focal epilepsies. The clinical relevance of coagulopathies, known as side effects of VPA therapy, especially thrombocytopenia, von Willebrand disease, and a decrease of factor XIII, is still unclear.

Methods: In our institute, we noticed a high incidence of clinically relevant coagulation problems related to VPA in eight patients within 1 year only and a further seven children with significant coagulopathy were identified in the context of planned surgery.

Maturation of the autonomic nervous system: differences in heart rate variability in premature vs. term infants.

Aims: Heart rate variability (HRV) reveals information on the functional state of the autonomic nervous system (ANS). This study was initiated to assess the physiological- and maturational development of the ANS by comparing HRV data of healthy prematures with term infants.

Methods: Short-term recordings of HRV in 39 premature healthy infants (29-35 weeks' gestation) were performed and compared with normative data of term infants.

Valproic acid induced encephalopathy--19 new cases in Germany from 1994 to 2003--a side effect associated to VPA-therapy not only in young children.

Valproic acid (VPA) is a broad-spectrum antiepileptic drug and is usually well-tolerated. Rare serious complications may occur in some patients, including haemorrhagic pancreatitis, bone marrow suppression, VPA-induced hepatotoxicity and VPA-induced encephalopathy. The typical signs of VPA-induced encephalopathy are impaired consciousness, sometimes marked EEG background slowing, increased seizure frequency, with or without hyperammonemia.

Heart rate variability during extracorporeal membrane oxygenation and recovery in severe neonatal disease.

Background: Heart rate variability (HRV) reveals information on the functional state of the autonomic nervous system (ANS) in neonates. During severe illness, heart rate variability is impaired.

Aim: This study was initiated to measure the changes in HRV in neonates during extracorporeal membrane oxygenation (ECMO) and recovery from severe respiratory and circulatory failure.

Short term heart rate variability in healthy neonates: normative data and physiological observations.

Background: The measurement of heart rate variability (HRV) reveals information on the functional state of the autonomic nervous system (ANS). Moreover, several diseases are known to be accompanied by a reduction in HRV. Currently, there are no data on HRV within larger samples of healthy neonates.

Factor XIII deficiency associated with valproate treatment.

Purpose: We present two children who developed a deficiency of factor XIII with valproate (VPA) treatment. This coagulation disorder has not been described in association with VPA treatment in children, and only very recently in one adult patient.

Results: Both patients showed recurrent epistaxis as major clinical sign of a combination of decreased coagulation parameters (factor XIII deficiency with thrombocytopenia and decreased von Willebrand factor, respectively).

Effects of valproic acid, carbamazepine, and phenobarbitone on the fatty acid composition of erythrocyte membranes in children.

Purpose: To investigate a possible relation between antiepileptic drugs (AEDs) and the fatty acid composition of membranes.

Methods: Fatty acid (FA) composition of erythrocytes was studied in children with epilepsy receiving AED monotherapy. Children taking valproate (VPA, n = 28), carbamazepine (CBZ, n = 17), or phenobarbitone (PB, n = 14) were compared with healthy controls (n = 25).

Topiramate enhances the risk of valproate-associated side effects in three children.

Purpose: We present three children with severe therapy-refractory epilepsy who tolerated valproate (VPA) well in various combinations with other antiepileptic drugs (AEDs) but developed typical VPA side effects in combination with topiramate (TPM).

Methods: The clinical symptoms began with apathy in all three children; two of them also had hypothermia. Furthermore all children had elevated blood ammonia levels, one child in combination with increased liver transaminases and one with thrombocytopenia.