Hypertensive krise als manifestation eines Leigh-syndroms bei einem 8-jährigen mädchen mit ungewöhnlichem klinischen verlauf und nachweis einer mtDNA nt 8993 (T→C) mutation

Background. Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy or childhood characterized by various clinical presentations. The disease is heterogenous and often results from a wide spectrum of mitochondrial disorders. Case report. We report on an eight year old girl who after a tonsillitis developed progressive ataxia, psychomotor regression and cranial nerve palsy. Brain MRI scans showed diffuse varying lesions in the basal ganglia, the mesencephalon and the thalamus. Mutation analysis demonstrated a T to C mutation at nucleotide 8993 of the mitochondrial DNA. In her second month of illness the patient developed severe hypertension. Relapsing hypertensive crises were hardly controlled by intravenous beta-blockers and ACE-inhibitors. Repeated cardiac assessment and laboratory findings ruled out endocrine, renal or cardiac disease. In the third month of illness the antihypertensive drugs could be adminstered first orally and finally stopped altogether. Blood pressure remained normotensive. The cranial MRI in the forth month of illness showed regression of the mesencephalic lesions. Discussion. The formatio reticularis as part of the mesencephalon plays an important role in maintaining blood pressure. Since the mesencephalon, the basal ganglia and the brainstem are vulnerable sites in Leigh syndrome hypertension should be taken into consideration when managing Leigh syndrome.