P42 Delayed diagnosis in paediatric sarcoidosis: lessons we can learn
Authors: Bray Lisa , Leahy Alice 
Published: September 2019

Background

Sarcoidosis is a rare autoinflammatory systemic granulomatous disease that can affect any organ in the body. Paediatric literature does not give a prevalence of neurosarcoidosis. Clinical features can be tricky to identify and piece together to suggest the diagnosis and biochemical markers such as serum angiotensin converting enzyme lack sensitivity.

Methods

This case report of a 13 year-old boy demonstrates his journey to diagnosis as he bounced between multiple private and NHS care teams. Referral was to our paediatric rheumatology department with a single oesophageal granuloma and bilateral uveitis. Symptoms include nausea, vomiting, weight loss which was regained, fatigue, disturbed sleep, chronic dry cough, then worsening headaches. He had been treated privately with steroid eye drops for bilateral uveitis. Histology of the oesophageal granuloma showed no acute inflammation. A private paediatric rheumatologist review concluded idiopathic uveitis with no underlying systemic disease that could be delineated at that time. A private haematologist subsequently diagnosed him with a chronic systemic inflammatory process leading to an iron deficient anaemia.

Results

He represented to his ophthalmologist with a 3 week history of worsening headaches and was found to have papilloedema. He was urgently jointly reviewed in the NHS setting by a paediatric gastroenterologist, neurologist and rheumatologist. Clinically apart from the bilateral pappiloedema there were no signs of disease. Urgent MRI demonstrated widespread inflammation and oedema in both cerebellar hemispheres and within his white matter bilaterally, as well as some cortical patches. Magnetic resonance arteriogram and magnetic resonance venogram were normal. Tonsillar herniation and ventricular tightness due to raised intracranial pressure was noted.

He was admitted urgently. Bloods showed normal inflammatory markers, iron deficient anaemia, ANCA negative, ACE 30 iu/L, Quantiferon negative. CXR was normal as were pulmonary function tests. A raised urinary calcium with raised calcium:creatinine ratio led to a renal tract ultrasound study that showed early nephrocalcinosis bilaterally. Ophthalmology review demonstrated granulomatous pan uveitis with macular oedema. NOD2 genetic testing was negative.

Conclusion

Neurosarcoidosis was diagnosed. He was treated with 2mg/kg IV Methylprednisolone over 3 consecutive days then a slow prednisolone wean starting at 60mg per day orally and 6 times a day Prednisolone eye drops. Weekly methotrexate 15mg subcutaneously and 5mg folic acid were started followed shortly by subcutaneous Adalimumab 40mg fortnightly.

Repeated MRI brain scans after treatment commenced showed resolution of cerebral inflammation. Follow up ophthalmology reviews demonstrate resolution of his uveitis. Bilateral nephrocalcinosis has persisted despite normalised serum and urinary calcium.

It was not until he was seen by an ophthalmologist with expertise in both areas that the severity and nature of the uveitis including it being granulomatous was picked up. The diagnosis was delayed due to the lack of joined up working between private and NHS sectors.

Conflicts of Interest

The authors declare no conflicts of interest.