Background: Infection with Mycoplasma pneumoniae causes peripheral or central inflammatory demyelinating disease. Simultaneous affection of peripheral and central nervous system has been described only in few case reports. Early diagnosis seems to be difficult, frequency of occurrence might be underestimated.

Aims: Thiamin (vitamin B1) is transported into the cell and then phosphorylated to thiamin pyrophosphate (TPP) by thiamin pyrophosphokinase (TPK). TPP is an essential cofactor of five enzymes, such as pyruvate dehydrogenase. The object is to show main symptoms of patients with TPK deficiency.

Case 1: 12 year old girl, 2nd of 4 children of consanguineous Iraqi parents with bilateral, dyskinetic, spastic paresis. Until 4 years of age normal development, than increasing tremor and dystonia, rigor and spasticity of the lower, later of the upper extremities. Progressively scoliosis, loss of gait, loss of speech, hypertrophic cardiomyopathy and symptomatic epilepsy developed. Therapy with intrathecal Baclofen slightly stabilized the situation.

Hintergrund: Das „Expert Committee on the Diagnosis and Classification of Diabetes Mellitus“ hat vorgeschlagen, zur Diagnosestellung eines Diabetes den HbA1c-Wert zu verwenden. Daten zur Wertigkeit der HbA1c-Bestimmung bei Diagnose eines Typ-1-Diabetes im Kindes- und Jugendalter liegen nicht vor.

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.

Introduction: An anti-NMDA-receptor encephalitis is a severe, more and more diagnosed form of encephalitis with characteristic clinical features. Anti-NMDA-receptor encephalitis had initially been described in young women with ovarian teratoma, but is also common in children and without neoplasm.

Parechoviruses are enteroviruses, which have only recently been detectable with PCR and can be described as a causative agent for neonatal encephalitis. We are reporting on a newborn with encephalitis and extensive white matter injury, a type of case on which there are very few publications to date.

Introduction: Pyridoxine-dependent convulsions (PDS) are a rare inherited metabolic disease. The mutation in the antiquitin gene (ALDH7A1) leads to a defect of the enzyme alpha-aminoadipinsemialdehyd-dehydrogenase in the degradation of lysine. As a consequence pipecolic acid (PA) and piperideine-6-carboxylate are increased. Vitamin B6 is irreversibly bound, which leads to a deficiency of vitamin B6. Characteristically, infants are early affected at 2–3 days of age, suffering from seizures not responding to any therapy. Medication of vitamin B6 results in prompt cessation of seizures. Despite of a lifelong treatment with vitamin B6, in some patients mental retardation occurres. The prognosis of PDS convulsion seems to be dependent from the start of therapy as well as from toxic metabolites. We report about a girl with PDS. In her case, a repeatedly dose of vitamin B6 was necessary to get her seizure-free. Additionally she was treated by a lysine balanced diet.

Most cases of pyridoxine dependent epilepsy (PDE) (MIM #266100) are caused by mutations of the antiquitin gene (ALDH7 A1), leading to α-aminoadipic acid semialdehyde dehydrogenase deficiency This enzyme is involved in the cerebral lysine degradation pathway. The accumulating compound piperideine 6-carboxylate (P6C) inactivates pyridoxalphosphate, causing severe cerebral pyridoxine deficiency. We report on biochemical and molecular findings in 31 Caucasian PDE patients with neonatal seizure onset, 13 of whom have not been reported previously. Pipecolic acid (PA) was measured by GCMS and α-aminoadipic acid semialdehyde (α-AASA) determined by LC-MS/MS. Mutation analysis was done by complete sequencing and confirming restriction fragment polymorphism analysis. In all patients with ALDH7 A1 mutations urinary α-AASA and plasma PA were elevated 1.6 to 62- fold and 1.5 to 38– fold, respectively. AASA and PA concentrations were higher in the 3 patients with pre-treatment sampling. Within 60 of the 62 alleles a total of 16 different mutations were identified. Several mutations had increased prevalence, as p.Glu399Gln (exon 14; 34%), c.1482–1G>T acceptor splice site mutation (intron 17, 12%), Arg82X (exon 4; 10%) and a „silent mutation“, p.V250V (exon 9; 9%). In 7 patients of 6 unrelated families 6 novel mutations were found: an insertion in exon 1, c.57insA (p.Arg20ThrfsX8), a donor splice site mutation, c.689+2T>C (intron 8), and 4 missense mutations (p.Arg82Gly (exon 4), p.Asn167Ser (exon 6), p.Asn420Lys (exon 15) and p.Gln425Pro (exon 15). All these mutations showed familiar cosegregation and were not present in 120 control alleles.

Objectives: The Hashimoto's encephalopathy is a rare cause of an encephalopathy in childhood. We report of a 12-year-old boy with recurrent paroxysmal episodes of unconsciousness who was diagnosed with Hashimoto's encephalopathy.