Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration

Autor: I. Vansteenkiste, Marina A. J. Tijssen, W.A. van Gool, D. J. Hofstee
Přispěvatelé: Neurology, Amsterdam Neuroscience
Jazyk: angličtina
Rok vydání: 2011
Předmět:
Zdroj: Journal of Neurology, 258(1), 152-154. SPRINGER HEIDELBERG
Journal of neurology, 258(1), 152-154. D. Steinkopff-Verlag
ISSN: 0340-5354
Popis: We present a patient with the atypical form of PKAN (pantothenate kinase-associated neurodegeneration, previously called the syndrome of Hallervorden and Spatz) that was caused by a new mutation in the PANK2 gene, with a peculiar type of bradykinesia. A 28-year-old woman was referred after several evaluations by psychiatrists and neurologists for her alleged conversion disorder. She was born after an uneventful pregnancy and delivery in Turkey and came to Holland at the age of 8 years. Since the age of 11 years she suffered from progressive speech problems. Currently, she was almost mute and communicated by typing on her mobile telephone. Furthermore, she suffered from continuous involuntary movements of her arms, difficulties walking, clumsiness of the hands, and frequent falls. History revealed many social problems, including severe domestic violence. Family history revealed consanguine parents, but was negative for neurological or psychiatric conditions. Neurological examination showed an alert woman with unprovoked laughing, who answered by typing on her mobile phone. She was unable to speak except for a single whispered word. She showed frequent repetitive stereotypical movements: stretching, touching the nose, waving and squeezing the hands. The movements appeared as complex motor tics, but no tics were seen in her face. She described the movements as unpleasant and there was no relief after the movements. Requested repetitive hand movements showed an unexpected marked bradykinesia and some dystonic posturing (see online resource for video). Palmomental reflexes were positive. Further neurological examination showed no abnormalities. Neuropsychological examination showed mild impairment of executive functions with decreased mental flexibility and information generation, increased impulsiveness, emotional lability and loss of initiative. A CT scan of the brain showed subtle hyperdensities in the basal ganglia, interpreted as calcifications (Fig. 1), while an MRI scan of the brain showed the ‘eye of the tiger’ sign (Fig. 2) [1]. Genetic analysis revealed a mutation in the PANK2 gene (c.712-714del). We present a patient with atypical PKAN with stereotypical obsessive compulsive movements, mild parkinsonism, severe mutism and a new deletion in the PANK2 gene. Mutism fits well in the clinical spectrum of atypical PKAN. Speech difficulty is either the sole presenting feature or part of the constellation of problems. This includes palilalia, tachylalia/tachylogia, dysarthria to anarthria, hypophonia and difficulty initiating speech [1–3]. In our patient, marked bradykinesia was noted only on specific testing, as she could type remarkably well and quickly. We could not find similar case reports. One patient has been described with stuttering and perseveration in which the speed of verbal neuropsychological tests improved with a laptop [4]. In general, extrapyramidal signs in atypical PKAN cases are less severe than in typical Electronic supplementary material The online version of this article (doi:10.1007/s00415-010-5688-z) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE
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