A Rare Case of Heerfordt’s Syndrome with Bilateral Facial Palsy

Abstract

Sarcoidosis is a multi systemic granulomatous disorder involving all the organs of the body. Heerfordt’s syndrome is an acute and rare presentation of sarcoidosis. It presents with fever, uveitis and bilateral parotid swelling with unilateral or bilateral facial palsy. It is seen in 0.3 % of cases of sarcoidosis. Typical presentation of Heerfordt’s syndrome is rare. Facial palsy is seen in 25–50 % of Heerfordt’s syndrome. Bilateral facial palsy is very rare contributing to only 0.3–2 % of all cases of facial nerve palsies. The diagnosis is very difficult as the facial features are less obvious compared to unilateral palsy. In this case report, we have presented a rare case of Heerfordt’s syndrome with bilateral facial palsy which was misdiagnosed as mumps. This case highlights the importance of including Heerfordt’s syndrome in evaluating the causes of facial palsy. Bilateral facial palsy unlike unilateral is less obvious. Hence a detailed history, thorough clinical examination and relevant investigations will aid in arriving at diagnosis and better management of the patient.

Introduction

Sarcoidosis is a multisystemic granulomatous disorder. The disease has varied presentation from acute to chronic. Heerfordt’s syndrome is an acute manifestation of sarcoidosis seen in 0.3–1.2 % of the cases of sarcoidosis [1, 2]. It presents with fever, uveitis and bilateral parotid swelling with facial palsy. Facial palsy is seen in 25–50 % of the cases of Heerfordt’s syndrome [3]. Facial palsy may be unilateral or bilateral. The differential diagnosis of facial palsy are many. Hence a detailed history, clinical examination and investigations are essential for diagnosis. Here we report a rare case of Heerfordt’s syndrome with bilateral facial palsy which was misdiagnosed as mumps. Because most patients with Heerfordt’s syndrome present with atypical symptoms at onset, many are misdiagnosed or remain undiagnosed. This case highlights the importance of knowing the rare manifestations of sarcoidosis thereby helping the clinician arriving at the diagnosis and treatment.

Case Report

A 32 year old male patient was referred with a provisional diagnosis of mumps. He complained of fever, headache and bilateral parotid swelling 1 month duration. Over the prior 2 months he noticed a sudden onset of redness and grittiness of both the eyes. The attacks were intermittent and he was treated with topical steroids.

Clinical examination revealed bilateral non tender parotid swelling. He had an expressionless face (mask like). He was unable to blow, whistle and frown. Complete eye closure was not possible (lagophthalmus) suggesting bilateral facial palsy. Slit lamp examination revealed bilateral anterior uveitis with corneal ulceration in the right eye. Fundus examination was normal.

Complete blood counts were normal. The serum C-reactive protein (CRP) levels were elevated. Magnetic resonance imaging (MRI) of the parotid revealed bilateral parotid enlargement (Fig. 1). MRI of the thorax revealed mediastinal and hilar lymphadenopathy (Fig. 2). MRI. Fine needle aspiration biopsy (FNAB) of the parotid revealed numerous non caseating granulomas composed of epithelioid cells, Langhan’s giant cells and lymphocytes (Fig. 3). Special stains for acid fast bacilli and fungus were negative. Serum angiotensin converting enzyme (SACE) levels were 464 u/l (normal = 8–65 u/l).

Fig. 1.

MRI showing bilateral parotid enlargement

Fig. 2.

MRI thorax showing hilar and mediastinal lymphadenopathy

Fig. 3.

FNAB of parotid showing non caseating granuloma

The patient had fever, anterior uveitis and bilateral parotid enlargement with bilateral facial palsy confirming the diagnosis of Heerfordt’s syndrome. The diagnosis was supported by FNAB from the parotid, mediastinal, hilar lymphadenopathy and SACE levels. He was treated with corticosteroids. The patient had symptomatic improvement with resolution of parotid swelling within a week. The facial palsy resolved in a month.

Discussion

Sarcoidosis is a multisystemic granulomatous disorder. The usual organs involved are the lungs and lymph nodes. However it can involve any organ of the body. The acute presentation of sarcoidosis occurs as Lofgren’s syndrome and Heerfordt’s syndrome. Lofgren’s syndrome is characterized by fever, bilateral hilar adenopathy, erythema nodosum and arthralgia.

Heerfordt’s syndrome is a rare presentation of sarcoidosis occurring only in 0.3 % of sarcoidosis [1]. According to Sharma et al. [2], in India Heerfordt’s syndrome is seen in 1.2 % of sarcoidosis. Heerfordt’s syndrome was first described in 1909 by Dr. Christian Fredrick Heerfordt, a Danish ophthalmologist [4]. It is defined as an atypical manifestation of sarcoidosis. It presents with a triad of fever, uveitis and swelling of the parotid glands with facial palsy. Acute onset of facial palsy in Heerfordt’s syndrome is 25–50 % [3]. The facial palsy can be unilateral or bilateral. In one case initially the facial palsy was unilateral which was misdiagnosed as Bell’s palsy [1]. Later the patient developed bilateral facial palsy.

Unlike unilateral facial palsy which in most cases idiopathic, bilateral palsy usually signifies an underlying serious medical illness [5]. The differential diagnosis of bilateral facial palsy include infections such as mumps, infectious mononucleosis, HIV, Guillain–Barre syndrome and auto immune disorders such as amyloidosis. According to Kato et al. [6], a case of Heerfordt’s syndrome was misdiagnosed as Guillain–Barre syndrome. Hence it is of paramount importance to obtain a comprehensive medical history from the patient and detailed investigations to rule out the differential diagnosis of facial palsy.

The diagnosis of Heerfordt’s syndrome is based on a detailed clinical history, radiological findings supported by histologic evidence of non caseating epithelioid cell granulomas in the absence of organisms and particles [7]. The clinical history includes fever, malaise and weight loss with signs of lower motor neuron type of facial palsy. Clinically the parotid glands are enlarged. Fine needle aspiration cytology from the parotid reveal non caseating granulomas. Special stains for acid fast bacilli and fungus are essential to rule out other causes of granulomas [8]. Slit lamp examination and fundoscopy are essential for eye evaluation. The most common ophthal finding is anterior uveitis seen in 65 % of cases [8]. The other findings include posterior uveitis, pan uveitis, bilateral granulomatous uveitis, swelling of both the eyelids and floaters.

Serum angiotensin converting enzyme (SACE)levels will be elevated in sarcoidosis as the granulomas produce the enzyme. SACE levels will be elevated in 60 % of sarcoidosis. However it is neither sensitive nor specific due to ACE gene polymorphism. Hence SACE levels can be used in monitoring the treatment and prognosis of the disease.

The management of Heerfordt’s syndrome is mainly with corticosteroid therapy. In refractory cases immuno suppressants like mycophenolate mofetil, cyclosporine and infliximab can be used. Topical artificial tear drops can be used since complete eye closure is not possible due to facial palsy.

Conclusions

The symptomatology of Heerfordt’s syndrome is variable and the disease presents a diagnostic challenge to the clinicians. This case highlights a rare and an acute presentation of sarcoidosis which was misdiagnosed as mumps. Hence a thorough knowledge of this entity may aid the clinician in making the correct diagnosis and hence the treatment.