Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who presented during early infancy with severe motor retardation, hypokinesia, and truncal hypotonia. CSF homovanillic acid and 5-hydroxyindoleacetic acid as well as tetrahydrobiopterin and neopterin were decreased. Diagnosis of recessive GTPCH deficiency was confirmed biochemically, and a novel homozygous mutation was identified in one patient and a compound-heterozygous mutation of GCH1 in the other. Treatment with Levodopa/Carbidopa resulted in striking clinical improvement, with age-appropriate development at follow-up at 6 years. Autosomal recessive GTPCH deficiency should be considered in infants with severe truncal hypotonia even if hyperphenylalaninemia or classical extrapyramidal symptoms are missing. Neurotransmitter analysis followed by enzyme or mutation analysis can confirm the diagnosis, and Levodopa treatment should be started at high-doses.

Dissections of the cervical arteries are among the most frequent causes of juvenile strokes. The etiology and pathogenesis of spontaneous dissections remain elusive. Best treatment remains to be defined. Here, we analyzed 71 consecutive patients from the Department of Neurology, University Hospital of Jena. We asked if immediate anticoagulation or alternative treatment with ASA would affect outcome. Patients treated initially with i.v. ASA tended to have a better outcome than patients who were anticoagulated (r=0.3; p<0.05). In heparin treated patients, an initial i.v. bolus shortened the interval before the target PTT was reached by 1.3 days (p<0.05), yet did not affect neurological outcome. Low NIHSS (National Institute of Health Stroke Scale) (r=-0.71; p<0.01) and high Barthel scores (r=0,77; p<0.01) at presentation predicted a good outcome. In 14 of 52 patients, low TSH (thyroid-stimulating hormone) indicated hyperthyreosis, while no patient was hypothyreotic. In 33 of 64 patients CRP (C-reactive protein) was elevated. These findings merit validation in larger trials.