Treatment of childhood migraine attacks with oral zolmitriptan and ibuprofen.

The authors conducted a double-blind, placebo-controlled, crossover study to investigate the efficacy of oral zolmitriptan in the treatment of migraine in children and adolescents. Patients (n = 32) received placebo, zolmitriptan 2.5 mg, and ibuprofen 200 to 400 mg to treat three consecutive migraine attacks. Pain relief rates after 2 hours were 28% for placebo, 62% for zolmitriptan, and 69% for ibuprofen (p < 0.05). Both drugs are well tolerated with only mild side effects.

[Life-threatening theophylline intoxication: a variant of Munchhausen syndrome by proxy]. / Lebensbedrohliche Theophyllin-Intoxikation im Rahmen eines Münchhausen-by-proxy-Syndroms.

We report of a prematurely born infant, who was admitted to hospital at the age of 6 months due to seizures. The seizures continued despite of an improved electroencephalogram due to varying medications. The boy had episodes of hypokaliaemia, diarrhea, and tachycardia which were treated in critical care unit. Not before 3 months of continued treatment and diagnostic work up in three different hospitals had passed the underlying poisoning with theophylline by the mother was proved. The toxicity of theophylline is well known. Adverse reactions occur frequently during theophylline therapy. There are numerous reports of suicidal intoxications with theophylline. Non-accidental poisoning with theophylline has not yet been reported in the context of Munchausen syndrome by proxy.

Moyamoya syndrome: impaired hemodynamics on ECD SPECT after EEG controlled hyperventilation.

BACKGROUND AND PURPOSE: Ischemic symptoms in children with Moyamoya syndrome are typically provoked by hyperventilation (HV) and are accompanied by the "re-build-up" phenomenon in EEG. The value of scintigraphic detection of HV-provoked perfusion deficits remains to be elucidated. PATIENTS AND METHODS: In seven children with Moyamoya syndrome regional cerebral blood flow was assessed by 99mTc-ethyl-cysteine-dimer (ECD) single photon emission computed tomography (SPECT) after HV and under baseline conditions to identify ischemia prone regions. RESULTS: Regional marked hypoperfusion after HV was found in all patients. Predominant perfusion deficits were detected in the frontal lobes. CONCLUSION: ECD SPECT is a potential tool for the preoperative evaluation of cerebral hemodynamics and for monitoring angiosurgical therapies in Moyamoya disease.

Periventricular cystic lesions in a preterm infant after a car accident during pregnancy.

We report on a preterm infant born at 30+5/7 gestational weeks who developed severe cystic cerebral lesions after exposure to a car accident one day before delivery. The literature on car accidents during pregnancy is reviewed with specific focus on neonatal neurological outcome.

Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations.

Early infantile epileptic encephalopathy (EIEE) is a polyetiologic age-dependent neurological disorder. We present two patients with EIEE whose mothers experienced electric injury during pregnancy. After the accident one mother noticed decreased fetal movements. Neither other prenatal factors nor intrapartal damage or postnatally examined structural, metabolic or infectious causes which might have been responsible for the EIEE in these children could be found. The question of electric accident during pregnancy should be considered when documenting the history of children with Ohtahara syndrome.

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.

Charcot-Marie-Tooth disease type 1 (CMT1) is a demyelinating peripheral neuropathy most commonly caused by a DNA duplication on chromosome 17p11.2 including the peripheral myelin protein 22 (PMP22). Point mutations in the myelin protein zero gene (MPZ) and gap junction protein, beta-1 gene (GJB1) are also found in association with CMT1 or the subclass of CMT type X (CMTX), respectively. Recently point mutations in these genes have been found in patients showing the axonal variant of CMT, CMT type 2 (CMT2). We here describe the clinical and electro-physiological findings caused by two novel and two recently described MPZ mutations and six GJB1 mutations. Different MPZ and GJB1 mutations were associated with different grades of severity in CMT1 and CMTX. The novel MPZ Glu141st op mutation was associated with the axonal CMT2. We conclude that the clinical and electrophysiological heterogeneity among CMT patients carrying point mutations in MPZ and GJB1 is similar. Thus for clinical purposes CMT1 and CMT2 patients should be screened for mutations in these two genes after duplication on chromosome 17p11.2 has been excluded as the disease causing mutation.

[Cockayne syndrome with marked cerebral symptoms]. / Cockayne-Syndrom mit betonter zerebraler Symptomatik.

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

Drug-induced changes in cerebral glucose consumption in bifrontal epilepsy.

PURPOSE: Positron emission tomography (PET) using 18F-radiolabeled deoxyglucose (18F-FDG) is a sensitive procedure for detection of epileptogenic foci. Although alterations in glucose consumption are not restricted to the area of seizure generation itself, the magnitude and extent of cerebral metabolic disturbances induced by epileptic discharges can be detected. Despite two decades of epilepsy research using 18F-FDG-PET, little is known about the metabolic changes during therapy of focal epilepsy. We report on a child with frontal epilepsy with severe glucose hypometabolism that was nearly completely normalized during drug therapy. METHODS: Interictal 18F-FDG-PET was performed at the onset of epilepsy and after optimized drug therapy in a 5-year-old boy with behavioral abnormalities and repetitive seizures of frontal origin with bifrontal interictal EEG slowing for 8 weeks. Both scans were anatomically matched; initial and intratherapeutic glucose metabolism were compared. RESULTS: In accordance with the epileptogenic focus as identified by EEG and ictal/interictal perfusion single-photon emission tomography (SPECT), bifrontal hypometabolism was depicted by 18F-FDG-PET. Magnetic resonance imaging (MRI) was unremarkable. After dual-drug therapy (valproate, carbamazepine), the boy became seizure free, and his initial behavioral deficits disappeared. A control PET study after 3 months of therapy showed restored glucose consumption; the frontal EEG slowing was normalized. CONCLUSIONS: This case demonstrates that reduction of glucose metabolism in epileptogenic foci may be a result of reversible neuronal dysfunction that correlates with the electroclinical follow-up.

Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.

AIMS: To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS: The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencephaly (n = 24). RESULTS: Genetic risk factors for thrombophilia were diagnosed in 16 of these 24 patients: heterozygous factor V Leiden (n = 3); protein C deficiency type I (n = 6); increased Lp (a) (n = 3); and protein S type I deficiency (n = 1). Three of the 16 infants had two genetic risk factors of thrombophilia: factor V Leiden mutation combined with increased familial Lp (a) was found in two, and factor V Leiden mutation with protein S deficiency type I in one. CONCLUSIONS: The findings indicate that deficiencies in the protein C anticoagulant pathway have an important role in the aetiology of congenital porencephaly.

Lipoprotein (a): its role in childhood thromboembolism.

PURPOSE: Elevated lipoprotein (a) [LP (a)] concentrations are independent risk factors of coronary heart disease or stroke in young adults. To clarify its role in childhood thromboembolism, Lp (a) was measured in 72 children with thromboembolism. METHODS: In addition to Lp (a), defects of the protein C anticoagulant system, antithrombin, and antiphospholipid antibodies were investigated in children with arterial (n = 36) or venous (n = 36) thrombosis. RESULTS: Enhanced Lp (a) >50 mg/dL was diagnosed in 8 out of 36 children with arterial and 5 out of 36 patients with venous thrombosis. Of the 72 children, 25 showed the factor V Leiden mutation, 10 showed protein C deficiency, 2 showed antithrombin deficiency, and 4 showed primary antiphospholipid syndrome. Three children with increased Lp (a) were heterozygous for the factor V Leiden mutation, and 1 girl showed additional protein C deficiency. CONCLUSIONS: Data of this study indicate that increased concentrations of Lp (a) play an important role in childhood thrombosis.

Regeneration in the optic nerve of adult rats: influences of cultured astrocytes and optic nerve grafts of different ontogenetic stages.

We have studied the effects of transplanted optic nerves of different ontogenetic stages (E19 to adult), and cultured astrocytes from P2 cerebral cortex on the regeneration of axons in the optic nerve of adult rats. Regeneration was visualized by anterograde tracing with rhodamine-iso-thiocyanate. Grafts were identified with Nuclear Yellow. Astroglia within both the cut optic nerve and the transplants were detected by anti-glial fibrillary acidic protein staining. In control animals (cut optic nerve, 2-3 mm behind the optic disc), only a few neurites were found 15 days after the operation which grew randomly for short distances into the surrounding meningeal sheaths. Perinatal (E19 to P2) optic nerves induced a massive outgrowth of RITC-filled axons from the host optic nerve. The regenerating fibres grew for up to 3 mm towards the graft, ahead of glial fibrillary acidic protein-positive astroglia emanating from the host optic nerve that seemed to follow them. Although the regenerating fibres reached the grafts, they did not penetrate them. Optic nerve grafts of increasing age elicited smaller growth responses; e.g. grafts from P8 promoted only a very limited (several 100 microns) growth response, grafts from P12 and later induced outgrowth comparable with that of control animals. Grafted astrocytes from P2 donors that had previously been grown in culture, were also capable of promoting outgrowth of rhodamine-iso-thiocyanate-filled axons from the host optic nerve. These findings suggest that only astrocytes at an immature stage of differentiation are capable of inducing axon growth from the adult optic nerve. Furthermore, the absence of an obvious cellular bridge between host and graft suggests that the graft effect is probably mediated by the release of astroglia-derived diffusible neurite growth promoting factors.