RESUMO
BACKGROUND: The harlequin syndrome is a rare disorder of the autonomic nervous system characterized by unilateral diminished flushing and sweating of the face following exposure to heat or physical activity. It results from sympathetic dysfunction and most commonly occurs idiopathically. A secondary development due to an underlying pathology (e.g., carotid artery dissection, tumors) must be excluded at first appearance. There is evidence that the cranial autonomic system is involved in the pathophysiology of trigeminal autonomic headaches like hemicrania continua. Therefore, an overlap in the pathophysiology of harlequin syndrome and trigeminal autonomic headache disorders seems plausible. However, the association of a harlequin syndrome with hemicrania continua was never reported. CASE PRESENTATION: This work describes the case of a 42-year-old female patient presenting to our headache unit. The patient reported persisting unilateral headache of the right side of dragging or squeezing character accompanied by trigeminal autonomic symptoms, including lacrimation, nasal congestion, conjunctival injection and Horner's syndrome, and was responsive to treatment with 75mg/d indomethacin. Five months after the initial consultation, the patient noted that the upper right quadrant of her face was pale after jogging. A harlequin syndrome was diagnosed. Further, she developed a short-lasting, bilateral headache of pulsatile character during strenuous exercise consistent with exertional headache. Comprehensive diagnostic evaluations, encompassing cranial and cervical MRI scans, laboratory tests, and biopsies, culminated in the diagnosis of Sjögren's syndrome. This finding suggests that the trigemino-autonomic dysfunction may either be idiopathic or a direct manifestation of Sjögren's syndrome. CONCLUSIONS: This report documents the case of a rare combination of a headache resembling probable hemicrania continua and the harlequin syndrome (and even exertional headache). It illustrates the underlying anatomy of the autonomic nervous system in a clinical context and emphasizes the hypothesis of a pathophysiological link between abnormal sympathetic activity and trigeminal autonomic headaches.
Assuntos
Doenças do Sistema Nervoso Autônomo , Rubor , Hipo-Hidrose , Humanos , Feminino , Adulto , Rubor/diagnóstico , Rubor/etiologia , Hipo-Hidrose/diagnóstico , Hipo-Hidrose/complicações , Hipo-Hidrose/fisiopatologia , Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Cefaleia/etiologia , Cefaleia/diagnóstico , Cefaleia/fisiopatologiaRESUMO
Harlequin syndrome is a rare condition, presenting with unilateral facial flushing and hyperhidrosis in response to physical exercise, heat or emotional stressors and has scarcely been reported in pediatric patients. It is caused by a dysfunction of vasomotor and sudomotor sympathetic fiber activity inhibiting the ability to flush on the affected side, causing the neurologically intact side to appear red. We present three pediatric cases of this uncommon syndrome, each of them of different origin and displaying distinct associated (neurological) symptoms, and review medical literature. Insight into the anatomical structure of the thoracocervical and facial sympathetic nervous system is pivotal as it dictates symptomatology. About half of Harlequin syndrome cases are complicated with ocular symptoms and a minority may be part of more extensive partial dysautonomias affecting facial sudomotor, vasomotor and pupillary responses, such as Holmes-Adie syndrome and Ross syndrome. Etiology is generally idiopathic, however, cases secondary to surgery, trauma or infection have been described. Considering its predominantly self-limiting nature, treatment is usually unnecessary and should be restricted to incapacitating cases.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Sistema Nervoso Autônomo/fisiopatologia , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Pré-Escolar , Feminino , Rubor/fisiopatologia , Humanos , Hipo-Hidrose/fisiopatologiaAssuntos
Síndrome de Horner/diagnóstico , Hiperidrose/diagnóstico , Hipo-Hidrose/diagnóstico , Sudorese/fisiologia , Administração Cutânea , Feminino , Síndrome de Horner/complicações , Síndrome de Horner/fisiopatologia , Humanos , Hiperidrose/etiologia , Hiperidrose/fisiopatologia , Hipo-Hidrose/etiologia , Hipo-Hidrose/fisiopatologia , Iodo , Pessoa de Meia-Idade , AmidoRESUMO
BACKGROUND: Harlequin syndrome presents as differences in facial coloring due to unilateral flushing. This is the result of the inability to flush on the affected side due to the disruption of vasomotor and sudomotor sympathetic activity. The neurologically intact side appears flushed. A 2°C temperature difference between the flushed and nonflushed sides of the face has been detected in patients presenting with Harlequin syndrome. This difference in temperature might be detectable even in the absence of unilateral flushing, and this subclinical manifestation of the syndrome may occur more often than realized. AIM: To measure and compare the difference in the change in temperature on both sides of the face in patients with a thoracic epidural. METHODS: Fifteen pediatric patients receiving thoracic epidurals for the correction of pectus excavatum via Nuss procedure were enrolled. Temperature measurements on each side of the face were collected at three time points: prior to epidural placement in the holding area, one hour after epidural analgesia had been instituted, and after the patient awakened in the recovery area. The primary outcome is whether or not a temperature difference occurred between the two sides of the face over time. RESULTS: Comparing the pre-op temperature change to post-op temperature change for each side of the face, patient 2 had a large increase in temperature on the left side of the face with a decrease in temperature on the right side of the face. The largest observed difference between the changes in temperature from pre-op to post-op between the right and left sides of the face was 1.85°C in patient 2. This was more than two standard deviations from the mean difference in the patient population. Patient 15 also had a large difference in change in temperature from pre-op to post-op between the right and left sides of the face with an observed difference of 1.14°C, although this was not more than two standard deviations from the mean. None of the patients had unilateral facial flushing. CONCLUSION: Asymmetric effects or distribution of local anesthetic used in thoracic epidurals may result in asymmetric blockade of efferent sympathetic nervous system activity. This may cause differences in temperature between the two sides of the face without unilateral flushing. This phenomenon has previously been termed subclinical Harlequin syndrome. Subclinical Harlequin syndrome may be more common than anticipated and may be detected by comparing temperature differences in patients.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Temperatura Corporal/fisiologia , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Adolescente , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Face/fisiopatologia , Feminino , Rubor/fisiopatologia , Humanos , Hipo-Hidrose/fisiopatologia , MasculinoRESUMO
PURPOSE OF REVIEW: This article reviews disorders of sweating, including hyperhidrosis and anhidrosis due to central or peripheral autonomic nervous system causes. RECENT FINDINGS: Disorders of thermoregulation and sweating may manifest with hyperhidrosis or hypohidrosis/anhidrosis. Primary disorders of hyperhidrosis may significantly impact quality of life yet tend to be benign. Many sweating disorders present with compensatory hyperhidrosis due to areas of anhidrosis. Anhidrosis may occur due to either central or peripheral damage to the autonomic nervous system. The thermoregulatory control of sweating involves central pathways from the hypothalamus to the brainstem and then spinal cord as well as projections to peripheral structures, including the sympathetic chain ganglia, peripheral nerves, and eccrine sweat glands. Disruption at any point of this pathway may lead to impaired sweating. Characterization of sweating dysfunction helps localize different autonomic disorders to guide diagnosis and may allow for evaluation of treatment effect. SUMMARY: Sweating dysfunction manifests in myriad ways, including essential hyperhidrosis, complete anhidrosis with heat intolerance, and compensatory hyperhidrosis due to anhidrosis, and often indicates involvement of underlying central or peripheral autonomic dysfunction.
Assuntos
Doenças do Sistema Nervoso Autônomo/fisiopatologia , Hiperidrose/fisiopatologia , Hipo-Hidrose/fisiopatologia , Sudorese/fisiologia , Idoso , Doenças do Sistema Nervoso Autônomo/complicações , Regulação da Temperatura Corporal/fisiologia , Feminino , Humanos , Hiperidrose/complicações , Hipo-Hidrose/complicações , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795Gâ¯>â¯T in the NTRK1 gene in blood lymphocytes. Both parents were heterozygous for the mutation. The variant predicts a premature stop codon (p.Gly599Ter) and thus represents a pathogenic variant; the first reported in the Southeastern European population.
Assuntos
Artropatia Neurogênica/genética , Predisposição Genética para Doença , Ossificação Heterotópica/genética , Receptor trkA/genética , Adulto , Artropatia Neurogênica/fisiopatologia , Feminino , Humanos , Hipo-Hidrose/genética , Hipo-Hidrose/fisiopatologia , Ossificação Heterotópica/fisiopatologia , Dor/genética , Dor/fisiopatologia , Adulto JovemRESUMO
Harlequin syndrome is a rare combination of symptoms, characterized by unilateral facial anhidrosis and paleness on the affected side, becoming obvious by contralateral flushing mainly during sports activity. The syndrome is mostly idiopathic, however it is also described as a complication of thoracic surgery, i.e. superior lobectomy. Here, we report on two cases of Harlequin syndrome following scoliosis surgery at the cervicothoracic junction.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Escoliose/cirurgia , Adolescente , Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Criança , Rubor/complicações , Rubor/fisiopatologia , Humanos , Hipo-Hidrose/complicações , Hipo-Hidrose/fisiopatologia , MasculinoRESUMO
We describe a 60-year-old woman with medically refractory left mesial temporal lobe epilepsy accompanied by Ross syndrome. The patient had a partial triad of Ross syndrome with hypohydrosis only on her right side (contralateral to the epileptic seizure focus), Adie's tonic pupil on the right, and areflexia while her seizures used to be medically refractory. However, her hypohidrosis and Adie's tonic pupil have completely changed in terms of laterality following nearly complete seizure freedom resutling from left temporal lobectomy. This unique change in laterality in Ross syndrome is most likely caused by remote effects of the near-absent epileptic acitivity, and it also may contribute to understanding the pathophysiological mechanism of Ross syndrome.
Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Epilepsias Parciais/cirurgia , Epilepsia do Lobo Temporal/cirurgia , Lateralidade Funcional , Hipo-Hidrose/etiologia , Hipo-Hidrose/fisiopatologia , Procedimentos Neurocirúrgicos/métodos , Lobo Temporal/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Reflexo Anormal , Síndrome , Pupila Tônica/etiologia , Pupila Tônica/fisiopatologiaRESUMO
Harlequin's syndrome is a rare dysautonomic syndrome of the face characterized by sweating with flush of one side and anhidrosis of the contralateral side. Mostly idiopathic although several secondary cases have been reported in the literature, the purpose of the treatment is mainly aesthetic and functional. We report the case of a patient having harlequin syndrome in its idiopathic form with a literature review.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Face , Rubor/fisiopatologia , Humanos , Hipo-Hidrose/fisiopatologia , Masculino , Adulto JovemRESUMO
Harlequin syndrome is a disorder of the autonomic nervous system. It clinically presents as a distinct line of hemifacial sympathetic denervation. We describe a case of Harlequin syndrome with co-existing central first-order Horner syndrome in the setting of a large thalamic hemorrhage with intraventricular extension.
Assuntos
Doenças do Sistema Nervoso Autônomo/etiologia , Rubor/etiologia , Síndrome de Horner/etiologia , Hipo-Hidrose/etiologia , Hemorragias Intracranianas/complicações , Tálamo/irrigação sanguínea , Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Feminino , Rubor/diagnóstico , Rubor/fisiopatologia , Síndrome de Horner/diagnóstico , Síndrome de Horner/fisiopatologia , Humanos , Hipo-Hidrose/diagnóstico , Hipo-Hidrose/fisiopatologia , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/fisiopatologia , Pessoa de Meia-IdadeRESUMO
A 47-year-old man presented with left shoulder pain and muscle weakness in the left limbs on November 2017. On the next day, he experienced dysesthesia of the right limbs and hypohidrosis of the left limbs and developed thermal hypoalgesia in right side of body and muscle weakness of the left upper and lower limbs progressed. He was diagnosed with acute myelitis and Brown-Séquard syndrome, based on cervical MRI scan. Muscle strength improved after steroid therapy and plasma exchange. He experienced complications of intraabdominal abscess in the right side during immunological therapy, although he only had a symptom of left abdominal pain, without pain in the right side. It is noteworthy that abdominal hypoalgesia can be associated with Brown-Séquard syndrome. Characteristically, MRI revealed bilateral lesions at the C3/4 cervical spine level. This report shows that in Brown-Séquard syndrome associated with bilateral spinal lesions, the abdominal visceral sensory pathway, in addition to the somatosensory pathway, could be impaired bilaterally, resulting in aggravation of abdominal hypoalgesia.
Assuntos
Dor Abdominal/etiologia , Abscesso/etiologia , Agnosia/etiologia , Síndrome de Brown-Séquard/complicações , Doenças do Ceco/etiologia , Hipo-Hidrose/etiologia , Doenças do Íleo/etiologia , Mielite/complicações , Parestesia/etiologia , Doença Aguda , Lateralidade Funcional , Humanos , Hipo-Hidrose/fisiopatologia , Masculino , Pessoa de Meia-Idade , Parestesia/fisiopatologiaAssuntos
Amiloidose Familiar/complicações , Herpes Zoster/complicações , Hipo-Hidrose/etiologia , Líquen Plano/complicações , Dermatopatias Genéticas/complicações , Administração Tópica , Adulto , Amiloidose Familiar/tratamento farmacológico , Amiloidose Familiar/patologia , Biópsia por Agulha , Fármacos Dermatológicos/uso terapêutico , Seguimentos , Herpes Zoster/tratamento farmacológico , Herpes Zoster/patologia , Humanos , Hipo-Hidrose/tratamento farmacológico , Hipo-Hidrose/fisiopatologia , Imuno-Histoquímica , Líquen Plano/tratamento farmacológico , Líquen Plano/patologia , Masculino , Doenças Raras , Medição de Risco , Estudos de Amostragem , Dermatopatias Genéticas/tratamento farmacológico , Dermatopatias Genéticas/patologia , Resultado do TratamentoAssuntos
Neuropatia Alcoólica/complicações , Glândulas Écrinas/inervação , Hipo-Hidrose/diagnóstico , Idoso , Neuropatia Alcoólica/patologia , Neuropatia Alcoólica/fisiopatologia , Glândulas Écrinas/patologia , Glândulas Écrinas/fisiopatologia , Humanos , Hipo-Hidrose/etiologia , Hipo-Hidrose/patologia , Hipo-Hidrose/fisiopatologia , Masculino , Sudorese/fisiologiaRESUMO
No disponible
Assuntos
Humanos , Feminino , Sistema Nervoso Autônomo/diagnóstico por imagem , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Sistema Nervoso Autônomo/fisiopatologia , Rubor/fisiopatologia , Hipo-Hidrose/fisiopatologia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XAssuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Rubor/diagnóstico , Hipo-Hidrose/diagnóstico , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Feminino , Rubor/fisiopatologia , Humanos , Hipo-Hidrose/fisiopatologia , Pessoa de Meia-IdadeRESUMO
NGF is a well-studied neurotrophic factor, and TrkA is a receptor tyrosine kinase for NGF. The NGF-TrkA system supports the survival and maintenance of NGF-dependent neurons during development. Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder due to loss-of-function mutations in the NTRK1 gene encoding TrkA. Individuals with CIPA lack NGF-dependent neurons, including NGF-dependent primary afferents and sympathetic postganglionic neurons, in otherwise intact systems. Thus, the pathophysiology of CIPA can provide intriguing findings to elucidate the unique functions that NGF-dependent neurons serve in humans, which might be difficult to evaluate in animal studies. Preceding studies have shown that the NGF-TrkA system plays critical roles in pain, itching and inflammation. This review focuses on the clinical and neurobiological aspects of CIPA and explains that NGF-dependent neurons in the peripheral nervous system play pivotal roles in interoception and homeostasis of our body, as well as in the stress response. Furthermore, these NGF-dependent neurons are likely requisite for neurobiological processes of 'emotions and feelings' in our species.
Assuntos
Encéfalo/fisiopatologia , Emoções/fisiologia , Hipo-Hidrose/fisiopatologia , Fator de Crescimento Neural/fisiologia , Neurônios/fisiologia , Insensibilidade Congênita à Dor/fisiopatologia , Animais , Humanos , Hipo-Hidrose/complicações , Hipo-Hidrose/psicologia , Interocepção , Insensibilidade Congênita à Dor/complicações , Insensibilidade Congênita à Dor/psicologia , Sistema Nervoso Periférico/fisiopatologia , Receptor trkA/fisiologiaRESUMO
A 58-year-old women developed unilateral facial flushing and sweating on the left side of her face immediately after a right thoracotomy upper lobectomy and paravertebral block. She was diagnosed with Harlequin syndrome in the absence of any other neurological signs or symptoms. She had recovered completely from this episode on follow-up.