Children and adolescents with chronic diseases suffer from a reduced health related quality of life and a restriction of their age-dependent development of autonomy. As a multisystemic disease is often characterized by an unpredictable trajectory there is an increased risk of secondary emotional and cognitive impairment. Inappropriate paternalistic behavior by caretakers can further reinforce regressive behavioral pattern and should, as other medical interventions, be minimized to the advantage of the growing autonomy. If a legal minor with increasing decision-making capacity declines a diagnostic or therapeutic intervention such a procedure should only be enforced if patients’ interests are served in the best possible way by this intervention. Acknowledging the increasing pluralistic approach of how to attain “good health” an ethical-case deliberation process should be sought in advance involving the patient, the caretakers and the medical personnel. The narrative and the hereby included values of children with chronic diseases should be respected as healthy bystanders can never fully anticipate their wishes or make an authentic decision on behalf of them. A wish-list and a child appropriate form of communication should be employed to help children in formulating their priorities. Seemingly irrational wishes of a dying child should not be disregarded offhand as they retain their importance for the grieving relatives. How far the wish for employing very expensive (orphan) drugs near the end of life should be based on quality adjusted life year is contested and should be discussed in a transparent way.

Aims: Goal setting in Neuropediatrics has not only to take account of what is technically feasible, scientifically proven, and economically possible but also of what is ethically acceptable.

Background: To test for vitamin B6 responsive epilepsies standardized vitamin trials and the use of biomarkers are helpful to guide genetic workup. So far resistance to pyridoxine but response to pyridoxal 5′-phosphate (PLP) was thought to distinguish between mutations of the antiquitin (ALDH7A1) or PNPO gene. We report on six individuals out of five families with partial or complete response to pyridoxine and proven mutations in the PNPO gene. In two families, one sibling had died previously due to neonatal seizures of unclear etiology.

Introduction: Leigh syndrome caused by dysfunction of the mitochondrial metabolism is an inherited, heterogeneous and progressive, neurodegenerative disorder of infancy and early childhood, typically presenting with developmental regression, ataxia and muscular hypotonia.

Introduction: The hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome was described by Gastaut (1960) as predominantly unilateral convulsive seizures of long duration followed by hemiplegia and focal epilepsy. The peak incidence has been observed between 5 months and 2 years. We present a child with an unusual early onset HHE syndrome in the first week of life.

After an uneventful postnatal period a girl was presented at the age of 18 months with progressive bilateral athropathy involving knees, feet, toes and fingers. Painful swelling of the knee joints was seen only once at the age of four, breathing seemed unimpaired, peripheral lymph nodes, liver or spleen were not enlarged. Laboratory investigation and bone x-rays did not point towards a juvenile rheumatoid arthritis (JRA). CD4/CD8 T-lymphozyte ratio was not increased. Due to the development of contractures further investigation lead to an ophthalomologically confirmed uveitis. Muscle biopsy revealed CD4+/CD8+ noncaeseating granuloma suggesting an underlying sarcoidosis. Diagnosis was confirmed by computertomography showing noduli in both lungs and slightly restrictive ventilation parameters in lung-functional examination. An antiinflamatory therapy was initiated.

Introduction: Reversible posterior leucoencephalopathy (RPLS) has rarely been described in young children although its prevalence may be higher than previously thought of.