Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.

OBJECTIVE: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS). Because high-fat diet raises serious compliance issues, we investigated if oral L,D-3-hydroxybutyrate administration could be as effective as ketogenic diet in PDHD and GLUT1-DS. METHODS: We designed a partial or total progressive substitution of KD with L,D-3-hydroxybutyrate in three GLUT1-DS and two PDHD patients. RESULTS: In GLUT1-DS patients, we observed clinical deterioration including increased frequency of seizures and myoclonus. In parallel, ketone bodies in CSF decreased after introducing 3-hydroxybutyrate. By contrast, two patients with PDHD showed clinical improvement as dystonic crises and fatigability decreased under basal metabolic conditions. In one of the two PDHD children, 3-hydroxybutyrate has largely replaced the ketogenic diet, with the latter that is mostly resumed only during febrile illness. Positive direct effects on energy metabolism in PDHD patients were suggested by negative correlation between ketonemia and lactatemia (r 2 = 0.59). Moreover, in cultured PDHc-deficient fibroblasts, the increase of CO2 production after 14C-labeled 3-hydroxybutyrate supplementation was consistent with improved Krebs cycle activity. However, except in one patient, ketonemia tended to be lower with 3-hydroxybutyrate administration compared to ketogenic diet. CONCLUSION: 3-hydroxybutyrate may be an adjuvant treatment to ketogenic diet in PDHD but not in GLUT1-DS under basal metabolic conditions. Nevertheless, ketogenic diet is still necessary in PDHD patients during febrile illness.

[Tick-borne encephalitis in a child in a nonendemic country: A case report]. / Méningo-encéphalite à tiques chez l'enfant en France : à propos d'un cas.

Tick-borne encephalitis (TBE) is an arbovirus induced by tick-borne encephalitis virus (TBEV) transmitted by tick bite. The disease is rare in France (two to three cases per year) but endemic zones extend from Western Europe to the east coast of Asia (10,000-15,000 cases per year). An 8-year-old boy was admitted to our pediatric ward in Strasbourg (France) for febrile headache with diplopia. Four days after a tick bite, he declared a febrile headache together with maculopapular rash on the elbows, knees, and cheeks. Fourteen days after the outbreak of symptoms, he showed confusion, drowsiness, and binocular diplopia. Brain MRI was normal and the electroencephalogram found diffuse slow activity with no discharge. Lumbar puncture found meningitis with 92 cells (60% neutrophils, 40% lymphocytes). The diagnosis was made with specific IgM and IgG antibody isolation in the serum (Elisa). Lyme serology was negative. The evolution was slowly favorable and the child remained hospitalized for 8 days. The neurological control examination 2 weeks later was normal except for a moderate left deviation during tandem walk and left Romberg manoeuver. Meningitis or meningoencephalitis in a child must raise the diagnosis of TBE in children, even in nonendemic countries, given the recent increased incidence of TBE and the development of tourism. Recent travel in endemic areas, a history of tick bite, and a clinical course in two phases must be sought. The diagnosis is serologic and prevention is based on vaccination.