The Light at the End of the Tunnel: A Case of Dysautonomia Associated With Melkersson-Rosenthal Syndrome
Melkersson-Rosenthal Syndrome (MRS) is a rare neurocutaneous disorder characterised clinically by non-pitting facial oedema, relapsing lower motor neuron facial palsy, and a fissured dorsal tongue1. The incidence of MRS is unclear and the literature is limited to isolated case reports and small case series2. Autonomic dysfunction has been reported in MRS patients3, but reliable data on the prevalence of the association is limited. Here, we describe a case of dysautonomia in a patient with MRS presenting with visual disturbance, headache and ataxia.
A 56-year-old, right-handed, retired army officer was admitted following an acute episode of visual disturbance, occipital headache, diaphoresis and imbalance. His symptoms began while driving home in the evening. He felt startled by the lights of the vehicle behind him and his vision became blurred. The visual disturbance was associated with acute onset occipital pressure. He described the visual disturbance as like a “light at the end of a tunnel”. He pulled in to the side of the road and realised he was drenched in sweat. On getting out of his car he became unbalanced and fell to the left-hand side. The visual disturbance persisted, and he continued to feel that the lights of passing vehicles were too bright and the two lines on the road were converging together. Upon arrival home, he attempted to call his local doctor, but was unable to make out any numbers on his phone and decided to go to bed. The following morning his symptoms had improved but not resolved.
Examination on admission revealed dilated (8mm), minimally reactive pupils. Visual acuity was 6/9. Eye movements and fundoscopy were normal. Heel-toe walking was mildly impaired and he had evidence of bilateral facial weakness, which was felt to be old. CT brain showed no acute intracranial pathology, and angiography revealed no evidence of dissection. He underwent a lumbar puncture, which showed normal protein, glucose, cell count, and negative xanthachromia. MRI was contraindicated due to patient having a PPM.
The patient’s pupils remained dilated and minimally reactive for 12 hours and then gradually returned to normal with resolution of the visual disturbance, ataxia and occipital pressure. Symptoms completely resolved within 24 hours of admission and there has been no further dysautonomic episodes in the three months since discharge.
Our hypothesis was that a loss of parasympathetic tone to the pupillary sphincter resulted in unopposed sympathetic driven pupillary dilation and loss of accommodation. This manifested clinically as bilateral internal ophthalmoplegia. We feel this loss of accommodation led to the sensation that the lights from the car behind were suddenly brighter. The visual disturbance then led to the headache and ataxia. This hypothesis is supported by the diaphoresis, which may have represented systemic autonomic dysfunction, and normal imaging studies and negative ancillary investigations for intracerebral haemorrhage or infarction. In addition to the current episode, we felt that autonomic dysfunction may explain his recent diagnosis of sick sinus syndrome, which led to PPM insertion4. This case highlights that MRS is a multisystem disease and physicians managing patients with this condition need to be aware that autonomic dysfunction is a potential complication.
EA Donlon1, K O’Connell1, R Varini1, MG Khan and J Lynch1,2
1Department of Neurology, Galway University Hospital, Galway, Ireland.
2Department of Medicine, National University of Ireland, Galway.
Dr Eoghan Donlon, Department of Neurology, Galway University Hospital, Galway, Ireland.
1. Elias MK, Mateen FJ WC. The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases. J Neurol. 2013;260(1):138–43.
2. Tilakaratne, W., M., Freysdottir, J., Fortune F. Orofacial granulomatosis: review on aetiology and pathogenesis. J oral Pathol Med. 2008;37:191–5.
3. (NINDS). NI of ND and S. NINDS Melkersson-Rosenthal Syndrome Information Page. [Internet]. 2007 [cited 2017 Feb 21]. Available from: https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome
4. Goldstein, David S, Holmes, Courtney, Cannon, Richard Eisenhofer, Graeme, Kopin IJ. Sympathetic cardioneuropathy in dysautonomias. N Engl J Med. 1997;336(10):696–702.