[Pathomechanism and clinical presentation of neurobehavioral disturbances in a patient with MELAS syndrome].
The authors present the results of a longitudinal study of the neurobehavioral disturbances seen in K.S., a 22-year-old female patient with a mitochondrial cytopathy (MELAS) caused by the novel mutation C8293T. K.S. became ill in 1994 at the age of 16. She was referred for diagnosis to several different clinics. Four years after onset, the clinical diagnosis was established in the Department of Medical Rehabilitation at the Cracow Rehabilitation Center; the diagnosis was not confirmed until six years after onset, following the discovery of the mutation in the patient's mtDNA at Columbia University. Since 1996 the patient has presented with progressive dementia and periodic stroke-like episodes that produced fluctuating neurological symptoms. The essential pathomechanism of the neurobehavioral disturbances consists in the fragmentation of complex cerebral processes into their constituent elements; individual functions are frequently correctly executed on a lower level of cerebral organization, but the patient is unable to combine them into a sensible whole. The authors discuss the theoretical and clinical significance of the results presented here.
Pachalska
M
M
Oddziału Rehabilitacji Medycznej, Krakowskie Centrum Rehabilitacji, Kraków.
DiMauro
S
S
MacQueen
B D
BD
Tłokiński
W
W
Jeleńska-Szyguła
I
I
D000293:Adolescent; D001921:Brain / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000175:diagnosis / Q000503:physiopathology* / Q000523:psychology*; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000175:diagnosis / Q000209:etiology*
Patomechanizm i obraz kliniczny zaburzeń neurobehawioralnych u pacjentki z zespołem MELAS.