Fragile X syndrome (FXS) is a rare genetic disorder. FXS patients is nearly always characterized in affected males by developmental delay and intellectual disability along with a variety of behavioral issues. FXS premutation females could have increased risk for other comorbidities as well as autoimmune diseases. Multifocal motor neuropathy (MMN) is a rare chronic progressive immune-mediated motor neuropathy, clinically characterised by progressive asymmetric weakness and electrophysiologically by partial motor conduction block. Anti-ganglioside antibodies are supportive for MMN diagnosis.
Case report: Twenty three years old male presented with slowly progressive weakness in left hand, without complains about sensory disturbances. In childhood patient was diagnosed (with genetic confirmation) with FXS due to mild psychomotor development delay and behavioral alterations.
Clinical findings: On examination patient had decreased muscle strength and muscle atrophy in left palm muscles within n.ulnaris innervation without sensory deficits. Otherwise without focal neurologic deficit.
Diagnostic assessment: Nerve conduction studies revealed decreased motor action potential as well as prolonged latency and velocity in n.ulnaris sin. motor fibres indicating axonal-demyElīnating neuropathy, however without conduction block. Magnetic resonance imaging for spinal cord cervical-thoracal part was performed and showed no pathological findings. Blood analysis showed increased levels of anti-GM1 and anti-GM2 antibodies.
Discussion: FXS and MMN both are rare diseases, however, could be present simultaneously as presented in our case report. Male patients with FXS does not have increased risk for immune-mediated diseases, although could present with other disease coexistence. Diagnosis of MMN was made and therapy with subcutaneous immunoglobulin was started. Due to recent initiation of therapy the effect is not known yet.
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