1. Saroidosis presenting as a rare constellation of multisystem invovement Najindra Maharjan MD, Bipin Thapa MD, Sanjay Bhandari MD, Anuj Shrestha MD
Discussion:
Introduction:
Sarcoidosis is a multisystem disorder of unknown etiology, characterized by granulomatous infiltration and the development of non-caseating granulomas in many organ systems. Lungs are the most commonly affected organ and most of them are diagnosed incidentally by abnormal chest radiographic findings. Initial presentation with less common organ system involvement can cause diagnostic dilemma as in our case. Bilateral blurring of vision with ptosis took her to an ophthalmologist with no satisfactory results. A thorough evaluation by a neurologist afterwards led to the definite diagnosis.
Sarcoidosis is a granulomatous disorder mostly affecting lungs, eyes and skin but virtually any body organ can be involved. Heart and nervous system are involved in about 25% and 10% of patients with sarcoidosis respectively. Here we report a case of sarcoidosis who developed bilateral blurring of vision and ptosis with hydrocephalus, diabetes insipidus and complete atrioventricular nodal block suggesting both neurological and cardiac involvement in the same patient.
Case Description
Unlike systemic sarcoidosis, there is difficulty in making tissue diagnosis when involvement of central nervous system (CNS) or heart is suspected. MRI and CSF studies are sensitive in the detection of CNS inflammation but lack specificity, making the ascertainment of neurosarcoidosis a clinical challenge.1 Similarly cardiac involvement with sarcoidosis can have a wide variety of presentations ranging from conduction abnormalities, pericardial and valvular heart disease, congestive heart disease and sudden cardiac death.2 Endomyocardial biopsy can confirm the diagnosis but the diagnostic yield of the procedure is low because of the uneven distribution of the granulomatous process.3 Cardiac involvement though uncommon, carries a poor prognosis. Corticosteroids have been the cornerstone of the therapy of cardiac sarcoidosis but other immunosuppressants have also been used along with standard heart failure therapy, antiarrhythmics, pacemakers and implantable defibrillators.2 Cardiac transplantation is an option for patients who do not respond to medical therapy.
Diabetes insipidus from neurosarcoidosis may be a manifestation of panhypopituitarism. In a study by Tabuena et al 4, corticosteroid therapy resulted in the initial improvement of symptoms and gradual decrease in the pituitary tumor size but during a long term follow up, it failed to cure polyuria due to Diabetes insipidus. The use of desmopressin was necessary for a longer period.
A 46 year old lady with a medical history of sarcoidosis presented to Emergency Department with chest pain and shortness of breath. Her symptoms started 4 years ago with bilateral blurring of vision with ptosis. Initial evaluation by an ophthalmologist did not reach a diagnosis. She was then referred to a neurologist at a higher medical centre and work-up including MRI and CT scan of brain suggested the diagnosis of neurosarcoidosis. She was treated with high dose prednisone and her symptoms improved but after she developed significant weight gain, the dose of prednisone was tapered. Two years later she developed more blurring of vision associated with headache and gait instability and was found to have hydrocephalus. Bilateral intraventricular shunts were placed (Fig 1) and she was started on hydroxychloroquine and azathioprine. A year ago, the patient had experienced an episode of third degree atrioventricular node block requiring placement of a temporary pacemaker. A presumptive diagnosis of cardiac involvement with sarcoidosis was made; no cardiac biopsy was perfomed. The temporary pacemaker was eventually removed after clinical improvement with increasing dose of prednisone.
During this visit, she was again found to have third degree atrioventricular node block (Fig 2) and a temporary pacemaker was placed. While waiting for a permanent pacemaker placement, she developed significant polyuria with polydipsia. Serum sodium increased to 160 meq/L with change in serum osmolality and urine osmolality to 340 mosmol/L and 114 mosmol/L respectively. After few hours of administration of Desmopression subcutaneously, serum osmolarity and urine osmolarity changed significantly to 284 mosmol/L and 354 mosmol/L respectively. Both clinical and biochemical improvement with Desmopressin led to the diagnosis of central diabetes insipidus. Patient was discharged on daily desmopressin after placement of permanent pacemaker. .
Figure 1
Figure 2
References
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4. Tabuena RP, Nagai S, Handa T, et al. Diabetes insipidus from neurosarcoidosis: long-term follow-up for more than eight years. Intern Med 2004 oct;43(10):960-6.