Klinefelter syndrome and parkinsonism

Introduction: Klinefelter's syndrome has been associated with neurologic disorders such as epilepsy, essential tremor and others, but not with parkinsonism. We describe to our best knowledge the first case of Kliniefelter syndrome and parkinsonism.

Case: A 27 year old male presented with a three year history of parkinsonism of the equivalence type with rest tremor in the right hand. The patient denied the occurrence of frequent falls, urinary incontinence or orthostatic dysregulation. There was no evidence of substance abuse or antidopaminergic medication in the past. However it was known for some years that the patient was suffering from Klinefelter syndrome, even though he did not show the classical phenotypical features. However, these are described as highly variable. The diagnosis was based on chromosomal analysis.

Family history revealed that his father and also his grandmother were given the diagnosis of Parkinson disease. In addition, two cousins of his father were also known to suffer from Parkinson disease. A family tree is shown in fig. 1

Clinical presentation: The patient showed hypomimia and marked bradykinesia which was more pronounced on the right side with a typical resting tremor. The patient's handwriting was small and illegible, and the patient himself reported a continuous worsening over the past few years. Muscle strength was regular and there were no signs of cerebellar disease. There was no tendency to fall. Sensory examination was within normal limits. The remainder of the examination was also unremarkable.

Examinations to exclude other causes for a hypokinetic rigid syndrome such as acanthocytosis, Wilson's disease and chorea were normal.

Magnetic resonance imaging was performed and diagnosed as unremarkable. This was followed by an FP-CIT examination, which showed a decreased uptake of the radioactive labeled substrate within the putamen. Even though the patient did not show any signs of an atypical Parkinson syndrome, we performed an IBZM-Spect, which showed a regular uptake.

Based on the clinical and diagnostic examination we diagnosed idiopathic Parkinson disease and initiated genetic analysis. In summary, to our best knowledge, this is the first description of a patient with Klinefelter syndrome and idiopathic PD.

Fig. 1: Family tree M.D.