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Heerfordt-Waldenström syndrome is a rare subacute variant of sarcoidosis, characterized by enlargement of the parotid or salivary glands, facial nerve paralysis and anterior uveitis. Granulomas with a peripheral lymphocyte deficit are found in the anatomic pathology of affected organs. It is normally self-limiting, with cure achieved between 12 and 36 months, but some prolonged cases have been reported. Diagnosis of the syndrome is clinical, and treatment depends on the degree of systemic impairment. Oral corticosteroids represent the first line treatment option. The mortality rate ranges between 1 and 5% of cases.

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Abstract: Heerfordt-Waldenström syndrome is a rare subacute variant of sarcoidosis, characterized by enlargement of the parotid or salivary glands, facial nerve paralysis and anterior uveitis. Granulomas with a peripheral lymphocyte deficit are found in the anatomic pathology of affected organs. It is normally self-limiting, with cure achieved between 12 and 36 months, but some prolonged cases have been reported. Diagnosis of the syndrome is clinical, and treatment depends on the degree of systemic impairment. Oral corticosteroids represent the first line treatment option. The mortality rate ranges between 1 and 5% of cases.

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We report a case of complete Heerfordt syndrome accompanied by the involvement of small fiber neuropathy (SFN) manifesting as refracory facial pain. A 30-year-old man presented with pyrexia, a 2-week history of facial burning pain, and difficulty of mastication. After admission to our hospital, neurological examinations showed bilateral facial pain, trigeminal motor palsy, left facial nerve palsy, bilateral sensory neural deafness, uveitis and swelling of the parotid gland. Other examinations revealed bilateral hilar lymphadenopathy, high serum titer of angiotensin coenzyme, and no response in a tuberculin-tested, non-caseating epithelioid granuloma from lip biopsy, leading to the diagnosis of complete Heerfordt syndrome. Mandibular skin biopsy with immunostaining for PGP 9.5 showed SFN. High-dose corticosteroids proved somewhat effective against SFN as facial pain, but reducing the corticosteroid dose proved difficult, as symptoms were refractory to other immunosuppressants and pain-control drugs such as anti-epileptics and anti-depressants. The patient died of acute pancreatitis 3 years after disease onset. Autopsy showed no granuloma in hilar lymph node, trigeminal nerve, cranial base, nerve root, and muscle. SFN in this case probably represent a cause of refractory facial pain.

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As a subtype of the clinical presentations associated with sarcoidosis, the combination of uveitis, parotid gland swelling, and facial nerve palsy is known as Heerfordt's syndrome. This syndrome is an extremely rare disorder that has been estimated to affect only 4.1-5.6% of patients with sarcoidosis. We present 2 cases of Heerfordt's syndrome associated with radiculopathy in the trunk. The 2 patients experienced unilateral or bilateral radiculopathy in the trunk and in the trigeminal nerve area associated with Heerfordt's syndrome. Radiculopathy is also a rare manifestation in patients with neurosarcoidosis. A literature review revealed that only 51 cases of radiculopathy associated with sarcoidosis have been documented. A diagnosis of Heerfordt's syndrome was observed in 7 out of these 51 cases. Together with our 2 cases, 9 out of 53 patients with radiculopathy associated with sarcoidosis have been diagnosed as having Heerfordt's syndrome (estimated frequency, 16.9%). In conclusion, radiculopathy is a common neurological manifestation in patients with Heerfordt's syndrome. On the basis of our experience, we suggest that physicians consider the possibility of Heerfordt's syndrome in cases of radiculopathy with unknown cause.

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BACKGROUND & OBJECTIVES: Growing body of literature on sarcoidosis in India has led to an increased awareness of the disease. With the advent of better imaging tools hitherto under-recognized manifestations of sarcoidosis are likely to be better recognized. We sought to study the rare clinical and radiological manifestations (<5%) in patients with sarcoidosis. METHODS: Retrospective review of records of 164 patients with histopathologically proven sarcoidosis seen over six years in a tertiary care centre in north India, was done. RESULTS: Fifty four rare manifestations were observed in 164 patients. Acute presentation in the form of Lofgren syndrome was seen in eight (4.9%) and Heerfordt's syndrome in two (1.2%) patients. Musculoskeletal manifestations included chronic sarcoid arthritis in three (1.8%), deforming arthritis and bone erosion in one (0.6%) each. Rare initial presentation with dilated cardiomyopathy in one (0.6%), complete heart block in two (1.2%), bilateral sequential facial nerve palsy in two (1.2%), and pyrexia of unknown origin was seen in one (0.6%) patient. Other rare manifestations included chronic respiratory failure in one (0.6%), dysphagia in one (0.6%), sicca syndrome in five (3%), massive splenomegaly in one (0.6%), portal hypertension in two (1.2%), hypersplenism, gastric sarcoidosis, ninth and tenth cranial nerve palsies, moderate pericardial effusion and nephrocalcinosis in one (0.6%) each, and pulmonary artery hypertension in two (1.2%) patients. Rare radiological manifestations included moderate pleural effusion in two (1.2%), pleural thickening in five (3%), calcification of intrathoracic lymph nodes in four (2.4%), alveolar (nodular) sarcoidosis in three (1.8%), and myocardial uptake of 18F-fluorodeoxyglucose (F-18 FDG) in two (1.2%) patients. Fourteen patients had airways obstruction and behaved typically like seasonal bronchial asthma with excellent response to corticosteroids. INTERPRETATION & CONCLUSIONS: Increased awareness of rare manifestations will facilitate better management of these patients. With increasing use of modern diagnostic tools, manifestations hitherto considered rare, are likely to be recognized more frequently in the future.

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BACKGROUND: Acute presentation of sarcoidosis with the combination of uveitis, parotid gland enlargement, facial nerve palsy, and fever is called Heerfordt's syndrome. Clinically recognizable involvement of the nervous system occurs in < 10% of patients with sarcoidosis, and polyneuropathy in 24% with neurosarcoidosis. CASE: A 28-year-old woman diagnosed with Guillain-Barré syndrome was admitted and treated for a month in the Department of Neurology, Mie University hospital. Her visual acuity decreased 2 weeks after discharge. She was admitted to the Department of Ophthalmology, Mie University Hospital. She presented typical optic sarcoidosis. As she had uveitis, facial nerve palsy, parotid gland enlargement and fever in the clinical course, we diagnosed her condition as Heerfordt's syndrome. CONCLUSION: On rare occasions a Heerfordt's syndrome patient may present with Guillain-Barré-like symptoms.

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We found no cases of familial sarcoidosis with Heerfordt syndrome in the literature. A 25-year-old woman presented with high grade fever and parotid gland swelling in April 2004. An accompany with Right peripheral facial palsy developed in June, following which she was treated with corticosteroid therapy for 7 days, and her condition temporarily improved. Four months later she came to our hospital complaining of glare, then uveitis was diagnosed. She was referred to our department for work-up for treatment of sarcoidosis in January 2005. TBLB/BALF findings by bronchoscopy for definitive diagnosis were compatible with sarcoidosis. Various clinical symptoms indicated Heerfordt syndrome. Interestingly, pericardial effusion was also detected. In addition, her sister also suffers from sarcoidosis. Our patient had a favorable response to oral corticosteroid therapy (PSL 30 mg/day), gradually tapered 2.5-5 mg every 4 weeks, then stopped at the eighth month after commencing therapy. However, pulmonary lesions have relapsed 3 years after the discontinuation of the therapy. It is well known that relapses can happen when corticosteroids are used, and we should consider the progression of this disease and the indications of further treatment in this case.

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Progressive multifocal leukoencephalopathy (PML) is a severe demyelinating disease of the central nervous system caused by the JC virus; the mortality rate is high and it is usually refractory to treatment. In non-HIV patients, PML occurs as a late consequence of hematologic malignancies or during prolonged immunosuppression for transplantation or autoimmune disease. We describe a 34-year-old PML patient with incomplete Heerfordt syndrome, a rare type of sarcoidosis, who had not received any immunosuppressants, including steroids, at the onset and who was clinically and radiologically responsive to the antiviral drug cidofovir.

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Heerfordt's syndrome is characterized by fever, uveitis, swelling of the parotid gland, and facial nerve palsy and represents a variety of neurosarcoidosis. Since the first description of the syndrome, discussion about the lesion site has been controversial and has included the assumption of direct nerve compression by parotid gland swelling or a lesion within the facial canal in light of observations of accompanying taste disturbance. We report on a 26-year-old man with typical Heerfordt's syndrome who developed bilateral facial nerve palsy. Electrical and magnetic stimulation of the whole facial motor path provided strong evidence for a pathological process that: (i) began in the cerebellopontine angle; (ii) spread distally into the facial canal; and (iii) could be characterized by proximal demyelination. The patient recovered completely within 6 weeks under immunosuppressive therapy with steroids.

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HISTORY AND CLINICAL FINDINGS: A 29-year-old patient complained of recurrent swelling of the eyelids and cheeks, fever, diffuse headaches, night sweat and weight loss (8 kg during 8 weeks). Both parotid glands showed swelling which were solid, plain and non-painful to pressure. Palpation did not reveal enlarged lymph nodes. There were no other pathological findings except for anisocoria and disturbed motoric function of the right eye's pupil. INVESTIGATIONS: Laboratory findings, chest X-ray, abdominal sonography and ilium crest biopsy showed no signs of lymphoma or other tumour. MRT showed enlarged parotid glands and hypointensity of a few small (up to 2 cm) areas. Because of these findings Heerfordt syndrome with involvement of the third cranial nerve and the lacrimal glands was suspected and verified by parotid biopsy. TREATMENT AND COURSE: Under corticosteroid therapy started with 80 mg/d symptoms rapidly ceased. Therapy was continued for one year. 8 months after therapy had been stopped the patient had no complaints and investigations showed no signs of recurrence nor pulmonary or any other organ manifestation. CONCLUSION: If swelling of the parotid glands with night sweat, fever and weight loss occur, parotid biopsy should be performed early to exclude malignancy. With parotid gland biopsy also diagnosis of other diseases which have similar signs, such as Sjögren syndrome and parotid gland sarcoidosis, can be established early.

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Facial nerve palsy is the most frequent neurological presentation of sarcoidosis. It occurs with equal frequency on the right or left side, and equally unilateral or bilateral. When bilateral facial palsy develops in a young adult, sarcoidosis is the most likely cause. In our series of 147 patients with ocular sarcoidosis, facial palsy occurred in 12 per cent and parotid gland enlargement in 10 per cent. Resolution of facial palsy is complete in 80 per cent of patients. It does not recur, unlike orofacial granulomatosis in which facial palsy tends to be recurrent. The differential diagnosis is large (Table I) and needs full investigation in order to provide a better understanding of the treatment and prognosis. A 7-point scheme of management is set out for the patient with idiopathic facial nerve palsy.

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A 30-year-old female developed symptoms consistent with Heerfordt's syndrome (complete type) and was effectively treated with steroid. However, she developed hepatosplenomegaly, bloody pleural effusion, and ascites one year after discontinuation of steroid therapy. The symptoms were considered to be due to sarcoidosis since serum ACE level, and ACE level and OKT4/8 ratio in pleural and peritoneal effusions were significantly elevated, and readministration of steroid normalized these changes. Bloody pleural and peritoneal effusions are very rare complications of sarcoidosis.

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Heerfordt syndrome is an unusual manifestation of systemic sarcoidosis and is characterized by parotitis, uveitis, and facial nerve paralysis. A case is presented and the clinical manifestations are discussed. Angiotensin converting enzyme assays along with tissue biopsy demonstrating noncaseating granulomas confirm the diagnosis.

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