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Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone., (© 2012 Wiley Periodicals, Inc.)

Eleven-year-old Stephanie was admitted to a child and adolescent psychiatry day hospital with symptoms of an anxiety and panic disorder, and compulsive and self-harmful behavior. The patient described detailed threatening scenic sequences that caused her to feel panicky. They symptoms could be classified as epilepsy with visually dominated seizures of the occipital lobe. In addition to pharmacological treatment with oxcabazepine, extensive multimodal interventions as part of the child and adolescent psychiatric day hospital treatment program helped all family members to understand and handle the seizures. Eight weeks after initiation of treatment, Stephanie was seizure-free. Complex partial epilepsy can be mistaken for primary child-psychiatric disorder.

Febrile seizures are most common seizures in childhood (2-4%). Children with simple febrile seizures only have a slightly increased risk of epilepsy. Recurrences are common. Diagnostic ascertainment is easy, most evaluations simple, diagnostic routine schedules almost not necessary. Prophylactic antipyretic or anticonvulsant therapies are not recommended. Administration of rectal diazepam at home in case of recurrence is useful. Adequate therapeutical approach also includes physicians guidance and information for the dramatically frightened parents who think their child was about to die. Only complex febrile seizures with high risk of subsequent epilepsy may indicate intermittent diazepam prophylaxis or even continuous anticonvulsant treatment in case of a beginning epileptic syndrome.

Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families., Methods: We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed., Results: The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136., Conclusions: Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.

Unlabelled: The congenital syphilis is an infectious fetopathy which is able to affect the whole organism. In most cases symptoms are not obvious before week fourth to twelve of life. The infection of the mother is the precondition for the child's disease. The placental transfer takes place after the fifth to sixth month of gestation. We report about an eight week old baby with congenital syphilis. The positive maternal laboratory findings in the 4th month of pregnancy have been interpreted as a completely cured earlier infection causing a sero scar. The diagnosis became evident by serological tests detecting reactivation of maternal infection in late pregnancy and the clinical signs of acute infection of the child., Conclusion: There is a high risk of reactivation of maternal syphilis in the third trimenon even if the mother does not show any symptoms. In this case further serological tests in the prenatal care and careful examination of the newborn must be initiated.

The objective of this study was to prove the superiority of doxapram compared to theophylline therapy in apneas of prematurity in very low birth weight infants. Therefore all VLBW infants (gestational age < 35 weeks) were randomized if they had in a 2 hours-interval more than 2 apneas, 4 bradycardias or 4 oxygen desaturations. They received either theophylline (loading dose 5 mg/kg b. w., 3 mg/kg b. w. bid) or doxapram by continuous infusion of 0.5 mg/kg/h. Apneas, bradycardias and desaturations were recorded from the trend analysis of our monitoring system over the first 3-days and a 7 days period and compared statistically (Mann-Whitney U-test). Plasma levels of both drugs and a polysomnographic recording were obtained during steady state conditions in parallel to a behavioral observation according to Prechtl. The recorded events were again compared using the Mann-Whitney U-test. Twenty patients were treated with theophylline, 14 with doxapram. In 9 patients of each group we could perform a polysomnography and behavioral observation. The incidence of apneas, bradycardias and desaturations in a 7 days-interval was not significantly different between both groups. Analyzing the first 3 days of treatment, however, we could detect a significantly lower rate of apneas in the doxapram group (2.5 apneas compared to 7 in the theophylline group, p < 0.037). In the polysomnographic recording and in our behavioral observations we could not record any significant differences between both groups. Therefore we can conclude that theophylline and doxapram are comparable in the treatment of apneas of prematurity, however, doxapram is superior to theophylline in reducing the rate of apneas in the first 3 days of treatment.

The factitious disorder is a deliberately induced, hidden self-mutilation based on a psychic conflict. We present a previously healthy nine-year old girl with initially obscure symmetric skin lesions. Family history, psychological exploration, special tests like pictural expression and scenial exhibition revealed the child's fear of a divorce of her parents and her own identity problem. These examinations aroused the suspicion that the girl could only express her conflict of ambivalence by self-injury behavior in the meaning of artificial disease. Guided by this impression, an intensive conversation with both parents was undertaken, focussing the familiar crisis. Afterwards, the skin lesions disappeared the girl admitted the self-mutilation. A family therapy was initiated.