An unusual presentation of sarcoidosis
P King & MF Kong
A 20 year of man with cerebral palsy (spastic diplegia and mild learning difficulties) initially presented to the neurologists with a 4 month history of deterioration in mobility and new difficulties in speech, swallowing and incontinence of urine. New proximal muscle weakness, dyskinesia and ataxia were noted bilaterally in all limbs, Myoclonic jerks and absence seizures were also seen. His swallowing deteriorated to the point where 'PEG' feeding was necessary. Exhaustive neurological investigations did not reveal an additional primary neurological diagnosis, but biochemical tests showed a raised calcium (3.8mmol/l) and ALT (82U/l). Subsequent investigations showed normal ALP, phosphate, Vitamin D, suppressed PTH and 24 hour urinary calcium 7.7mmol/l. Serum ACE, immunoglobulins, thyroid function, Chest X-Ray and ultrasound scan of liver were normal. Calcium and ALT normalised immediately after a hydrocortisone suppression test subsequent liver biopsy showed non-caseating granuloma, suggesting sarcoidosis. Gadolinium enhanced MRI of his head showed no evidence of neurosarcoid. After 2 months treatment with prednisolone, the patient's additional neurological symptoms had entirely resolved and the 'PEG' tube removed. While the neurological features have been described in patients with hypercalcaemia, the combination of symptoms, particularly with marked dysphagia is unusual in hypercalcaemia generally and sarcoidosis (without neurosarcoid) in particular.