Acta Neurologica Belgica | 2019
A case of Parkinson’s disease in a patient with Klinefelter’s syndrome
Abstract
Klinefelter’s syndrome is the most common sex chromosomal disorder. Patients with Klinefelter’s syndrome may present with several neurological symptoms. Tremor syndromes are the most frequent movement disorder in Klinefelter’s syndrome [1]. However, parkinsonism has been rarely reported in Klinefelter’s syndrome. Here, we report a case of Parkinson’s disease (PD) in a patient with Klinefelter’s syndrome. A 60-year-old man presented with a 1-year history of bradykinesia. He was previously presented with reduced muscle strength, gynecomastia, and infertility, and was diagnosed with Klinefelter’s syndrome (karyotype 47 XXY in a chromosomal analysis). He had diabetes mellitus and no family history of parkinsonism. On neurological examination, cranial nerves were normal, and no evidence of a pyramidal or sensory disturbance was found. Bradykinesia, cogwheel rigidity was found on both sides and resting tremor was absent. Short-stepping and festinating gait were presented. Constipation and rapid eye movement sleep behavior disorder also existed. Brain magnetic resonance imaging showed several periventricular non-specific high-signal intensities on a T2-weighted image. 18F-N-(3-fluoropropyl)-2beta-carbon ethoxy-3beta(4-iodophenyl) nortropane positron emission tomography study revealed decreased striatal uptake in both basal ganglia, more prominent in the putamen (Fig. 1a). Myocardial 123I-metaiodobenzylguanidine scintigraphy showed decreased heart to mediastinum ratio (Fig. 1b). Bradykinesia and gait were improved with 1 mg of pramipexole and 1 mg of rasagiline. There was a previous report on PD in a patient with Klinefelter’s syndrome, which was a case of familial and young onset PD [2]. The development of PD in Klinefelter’s syndrome might be coincidental in our case. However, there is another possible explanation for the development of PD in terms of melatonin and its effect on neuronal cells in the two diseases. Experimental evidence exists regarding melatonin’s neuroprotective role in animal models of PD and Klinefelter’s syndrome [3]. Melatonin prevents dopaminergic neuronal cell death by blocking different apoptotic pathways and reduces disease burden in animal models of PD [3]. Although the relationship between melatonin and parkinsonism has not been thoroughly investigated in humans, down-regulation of melatonin receptors in the substantia nigra was found in an autopsy study of patients with PD [4]. Melatonin secretion was lower in patients with hypergonadotropic hypogonadism including Klinefelter’s syndrome than those with hypogonadotropic hypogonadism [5]. Therefore, decreased melatonin in Klinefelter’s syndrome may be associated with parkinsonism. In a previous case report, 27-year-old man with Klinefelter’s syndrome developed parkinsonism. The authors suggested that his early symptoms might be related to a reduced melatonin concentration [2]. As our patient was older, neurodegenerative changes might be more involved in the disease progression. However, we did not confirm the treatment effect of oral melatonin for improvement of his parkinsonism. * Yoon-Sang Oh [email protected]