Site of autonomic deficit in Harlequin syndrome: Local autonomic failure affecting the arm and the face

The site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweating (2 patients) and supersensitivity to 1% phenylephrine eyedrops (3 patients). One or both pupils constricted excessively to 0.0625% pilocarpine eyedrops (3 patients), consistent with ocular parasympathetic deficit. These findings suggest that pre- or postganglionic cervical sympathetic fibers, and parasympathetic neurons in the ciliary ganglia, are compromised in harlequin syndrome. The finding of cholinergic supersensitivity in the iris muscles of patients with harlequin syndrome indicates a relationship with Holmes-Adie syndrome, Ross's syndrome, and the persistent autonomic deficit occasionally associated with Guillain-Barré syndrome.     

Harlequin syndrome: the sudden onset of unilateral flushing and sweating.

Facial flushing and sweating were investigated in five patients who complained of the sudden onset of unilateral facial flushing in hot weather or when exercising vigorously. One patient probably suffered a brainstem infarct at the time that the unilateral flush was first noticed, and was left with a subtle Horner's syndrome on the side opposite to the flush. The other four had no other neurological symptoms and no ocular signs of Horner's syndrome. Thermal and emotional flushing and sweating were found to be impaired on the non-flushing side of the forehead in all five patients whereas gustatory sweating and flushing were increased on that side in four of the five patients, a combination of signs indicating a deficit of the second sympathetic neuron at the level of the third thoracic segment. CT and MRI of this area failed to disclose a structural lesion but latency from stimulation of the motor cortex and thoracic spinal cord to the third intercostal muscle was delayed on the non-flushing side in one patient. The complaint of unilateral flushing and sweating was abolished in one patient by ipsilateral stellate ganglionectomy. The unilateral facial flushing and sweating induced by heat in all five patients was thus a normal or excessive response by an intact sympathetic pathway, the other side failing to respond because of a sympathetic deficit. The onset in the four cases of peripheral origin followed strenuous exertion, which suggested that an anterior radicular artery may have become occluded at the third thoracic segment during torsion of the thoracic spine.     

Botulinum toxin for treatment of Harlequin syndrome

We described a patient with Harlequin syndrome, a rare neurological condition, characterized by unilateral facial sweating and flushing, who had a good response to botulinum toxin application. She had been submitted to sympathectomy a few years, however she still complained of excessive sweating in the regions mentioned and intense flushing.     

Harlequin syndrome caused by isolated focal parasympathetic neuropathy

Clinical Autonomic Research -     

Unilateral loss of facial flushing and sweating with contralateral anhidrosis: Harlequin syndrome or Adie's syndrome?

A 45-Year-Old woman presented with a 10 year history of asymmetrical facial flushing and sweating after exertion or in hot weather. During these episodes the right side of her face remained dry and white, while the left side normally flushed. Sweating was impaired on the left side in the limbs and trunk. She also had areflexia in the lower limbs and slow pupillary reactions to light and darkness, as seen in Adie's syndrome. The topography of the sweating disorder suggested that the lesion involved the sympathetic pathways at the level of spinal cord. The relationship with the harlequin syndrome and related disorders is discussed.     

Is Ross syndrome a dysautonomic disorder only? An electrophysiologic and histologic study.

OBJECTIVE: To define the involvement of peripheral nerve fibers in Ross syndrome. METHODS: Mechanical pain perception, tactile and thermal thresholds on hand, foot dorsum, thigh, median nerve orthodromic sensory conduction velocity (SCV) and motor conduction velocity (MCV), sural nerve antidromic SCV, peroneal nerve MCV, H-reflex, F-wave, median, tibial nerve somatosensory evoked potentials (SSEPs), perioral, hand CO(2) laser late (LEPs) and ultralate evoked potentials, sympathetic skin response (SSRs), cardiovascular, Minor sweat, silastic imprint, histamine, photopletysmographic and pupil pilocarpine tests, cutaneous innervation immunohistochemical techniques were studied in 3 patients with Ross syndrome. RESULTS: Quantitative sensory testing showed altered results in patients 1 and 2, and patient 3 had a slight impairment of mechanical pain perception. Nerve conduction, except for a median nerve distal reduction of sensory conduction in patient 1, F-wave and SSEP findings were normal; H-reflex was absent at rest in all patients. Hand LEPs were absent in patient 2, ultralate potentials were absent in patients 1 and 2. Skin biopsy showed a disease duration related reduction of unmyelinated and myelinated sensory fibers and a lack of unmyelinated autonomic fibers in all patients. CONCLUSIONS: Our data suggest that Ross syndrome is a degenerative disorder involving progressive sudomotor fibers, and then epidermal sensory unmyelinated and myelinated fibers.     

Severe dysautonomic onset of Guillain-Barré syndrome with good recovery. A clinical and autonomic follow-up study

A 39 year old man with acute panautonomic and mild somatic neuropathy had severe postural hypotension 1 week after onset. Porphyric neuropathy was excluded. The final diagnosis was Guillain-Barré syndrome (GBS). After 2 months he began to recover progressively and after 9 months he presented asymptomatic postural hypotension. We consider the hypothesis of a spectrum of clinico-pathological entities at one end of which lies GBS with autonomic signs and at the other acute pure dysautonomia. The site of the autonomic lesion, might have been in post-ganglionic sympathetic fibers and vagus nerve.     

Severe dysautonomic onset of Guillain-Barré syndrome with good recovery. A clinical and autonomic follow-up study

A 39 year old man with acute panautonomic and mild somatic neuropathy had severe postural hypotension 1 week after onset. Porphyric neuropathy was excluded. The final diagnosis was Guillain-Barré syndrome (GBS). After 2 months he began to recover progressively and after 9 months he presented asymptomatic postural hypotension. We consider the hypothesis of a spectrum of clinico-pathological entities at one end of which lies GBS with autonomic signs and at the other acute pure dysautonomia. The site of the autonomic lesion, might have been in post-ganglionic sympathetic fibers and vagus nerve.

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Sommario Abbiamo osservato un uomo di 39 anni colpito da una severa neuropatia autonomica acuta associata a una lieve neuropatia somatica. La diagnosi di porfiria fu esclusa e la diagnosi finale è stata di sindrome di Guillain-Barré (GBS). Dopo 2 mesi il paziente cominciò a migliorare e 9 mesi dopo presentava solo una lieve ipotensione ortostatica asintomatica. Viene discussa l'ipotesi di uno spettro di entità clinico-patologiche da un lato del quale risiede la GBS e dall'altro le forme di neuropatia autonomica acuta. Nel nostro caso la sede della lesione autonomica potrebbe essere nelle fibre simpatiche post-gangliari e nel nervo vago.

     

Harlequin syndrome (unilateral flushing and sweating attack) due to a spinal invasion of the left apical lung cancer

A 54-year-old man was admitted to our hospital because of a persistent pain of the left cervix and scapular region of three-month duration and an abnormal shadow in the chest roentgenograms. Neurological examinations, chest roentgenograms, chest CT scanning, vertebral tomograms and myelogram revealed Pancoast's syndrome concomitant with Horner's syndrome. Four months later, the patient complained of a sudden onset of unilateral flushing and sweating appearing on the right face, cervix and upper chest. Eye drop tests with cocaine, epinephrine and tyramine indicated the lesion of ciliospinal centers between the 8th cervical and 2nd thoracic spines. The unilateral flushing and sweating attack appearing on the intact side without Horner's syndrome seemed to be an excessive response by an intact sympathetic pathway, the other side failing to respond because of a sympathetic deficit.     

Conversational success in Williams syndrome: Communication in the face of cognitive and linguistic limitations

Williams syndrome (WS) is characterized by apparent relative strengths in language, facial processing and social cognition but by profound impairment in spatial cognition, planning and problem solving. Following recent research which suggests that individuals with WS may be less linguistically able than was once thought, in this paper we begin to investigate why and how they may give the impression of linguistic proficiency despite poor standardized test results. This case study of Brendan, a 12‐year‐old boy with WS, who presents with a considerable lack of linguistic ability, suggests that impressions of linguistic competence may to some extent be the result of conversational strategies which enable him to compensate for various cognitive and linguistic deficits with a considerable degree of success. These conversational strengths are not predicted by his standardized language test results, and provide compelling support for the use of approaches such as Conversation Analysis in the assessment of individuals with communication impairments.     

Conversational success in Williams syndrome: communication in the face of cognitive and linguistic limitations

Williams syndrome (WS) is characterized by apparent relative strengths in language, facial processing and social cognition but by profound impairment in spatial cognition, planning and problem solving. Following recent research which suggests that individuals with WS may be less linguistically able than was once thought, in this paper we begin to investigate why and how they may give the impression of linguistic proficiency despite poor standardized test results. This case study of Brendan, a 12-year-old boy with WS, who presents with a considerable lack of linguistic ability, suggests that impressions of linguistic competence may to some extent be the result of conversational strategies which enable him to compensate for various cognitive and linguistic deficits with a considerable degree of success. These conversational strengths are not predicted by his standardized language test results, and provide compelling support for the use of approaches such as Conversation Analysis in the assessment of individuals with communication impairments.