Unilateral Tongue Fasciculation Associated with Genetic Paraganglioma Syndrome

Introduction

A 16-year-old previously healthy female patient presented with persistent unilateral fasciculation and numbness of the right tongue. Also, she complained about headache with pulsatile character. Blood pressure was elevated at 148/93 mm Hg (>95th percentile). Magnetic resonance imaging of the brain revealed a 15 × 13 × 14 mm gadolinium-enhanced right-sided glomus tumor ([Fig. 1A]). Catecholamine levels were elevated during 24-hour urine excretion: norephedrine at 1,782 µg (normal: < 100) and normetanephrine at 3,937 µg (normal: < 300). ¹⁸F-dihydroxyphenylalanine PET-CT showed an additional retroperitoneal mass with increased dopamine uptake ([Fig. 1B]). Numbness ceased after the introduction of oxcarbazepine (15 mg/kg of body weight, twice daily). Resective surgery for the retroperitoneal tumor was performed. Histopathological evaluation of the surgical specimen was indicative for pheochromocytoma. Blood pressure normalized and headaches ceased after surgery. Tongue fasciculation resolved after 4 weeks of proton radiation of the right glomus tumor ([Video 1]). Genetic analysis revealed a sporadic mutation of the succinate dehydrogenase complex confirming the diagnosis of genetic paraganglioma syndrome (c.337_340delGACT; p.Asp113METFSx21).

Video 1 Right-sided tongue fasciculation on admission and resolution after radiation therapy. Online content including video sequences viewable at: www.thieme-connect.com/ejournals/html/doi/10.1055/s-0037-1607281.

Fig. 1 (A) Coronal T1-weighted magnetic resonance imaging slices revealing a 15 × 13 × 14 mm gadolinium-enhanced mass located at the right carotid sinus (arrows). (B) ¹⁸F-dihydroxyphenylalanine PET-CT detecting a retroperitoneal lesion with increased dopamine uptake (arrow).

Unilateral tongue fasciculation is a rare clinical condition. It might be caused by mechanical irritation of the hypoglossal nerve due to a glomus tumor in the context of a genetic paraganglioma disorder.[1] [2]

• References

• 1 Blondin NA, Huttner A, Baehring JM. Unilateral tongue atrophy and fasciculation. Arch Neurol 2011; 68 (11) 1478-1479
• 2 Martins R, Bugalho MJ. Paragangliomas/pheochromocytomas: clinically oriented genetic testing. Int J Endocrinol 2014; 2014: 794187