Bimanual mirror movements in a patient with Kallmann Syndrome

Introduction: Kallmann (olfactogenital) syndrome results from a congenital defect of the migration of GnRH-producing neurons and those of the olfactory bulb; a symptom combination of hypogonadotropic hypogonadism and hyposomia/anosmia is obligatory. Further optional symptoms may include a movement disorder, optic atrophy, color blindness, deafness, cleft lip and palate or renal agenesis.

Kallmann syndrome is more frequent in boys (1:7500) than in girls (1:50,000). Sporadic as well as familial cases with different inheritance modalities have been described. The X-linked type represents about 11–14% of the cases. Synkinesia or mirror movements appear in 85% of patients with X-linked Kallmann syndrome (2)

Case report:: We report a 16 year old patient who was presented to the ENT-department as a small child due to lack of taste sense; by the review of delayed sexual development later in his teenage years low levels of FSH, LH und Testosterone led to the suspicion of Kallmann syndrome. The presentation in the neurologic clinic took place because of peculiar mirror movements, which he had since he could remember. During the examination we noticed involuntary simultaneous mirror movement of the contralateral hand each time he purposely moved the other hand. Consistent with Kallmann syndrome his cranial MRI demonstrated hypoplasia of the olfactory bulb. Two possible Mutations in KAL1 and KAL2 (FGFR1) genes were examined and found to be negative.

Discussion: Congenital or beyond the 10th year persisting mirror movements occur as a rare isolated form or in the context of neurogenetic syndrome like Klippel-Feil- and Kallman syndromes; these are different from acquired/symptomatic mirror movements occurring after damage to the central nervous system (3). Electrophysiological studies suggest that congenital mirror movements could be the result of simultaneous activation of crossed corticospinal pathways with origin in both right and left motor cortices (4,5). Ipsilateral corticospinal connections seem to be normal in the ontogenity; persistence of mirror movements is attributed to a defect in the transcallosal inhibition, which normally correlates with completed myelination of the corpus callosum (6). It is hypothesized that the migration of inhibitory transcallosal fibres in patients with Kallmann syndrome and synkinesia could be defective (7).

References: [1] Kallmann, F. J., et al. (1944) The genetic aspects of primary eunuchoidism. Am J Ment Deficiency 48: 203. [2] Krams, M. et al (1997) Mirror movements in X-linked Kallmann's syndrome. Brain 120: 1217. [3] Jelasic, F. und Ott, B. (1969) Kontralaterale Synkinesien: klinische und elektromyographische Untersuchungen bei idiopathischen und symptomatischen Formen. Dtsch. Z. Nervenheilk. 195: 187. [4] Mayston, M. J. et al (1999) A neurophysiological study of mirror movements in adults and children Ann Neurol. 45: 583. [5] J. D. Allison et al (2000), Functional MRI cerebral activation and deactivation during finger movement; Neurology 54:135. [6]. Müller K., et al (1997) Ontogeny of ipsilateral corticospinale projections: a developmental study with transkranial magnetic stimulation. Ann Neurol. 42 (5): 705. [7] Danek, A, et al (1992) cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers. Ann Neurol 31 299.