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Sarcoidosis Presenting with Acute Hydrocephalus in a New Zealand European Female Arjun Chandna, Christopher Todd, David Murphy, Ronald Boet, Roderick Duncan

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Sarcoidosis Presenting with Acute Hydrocephalus in a New Zealand European Female Arjun Chandna, Christopher Todd, David Murphy, Ronald Boet, Roderick Duncan NEW ZEALAND MEDICAL JOURNAL http://www.nzma.org.nz/journal/read-the-journal/all-issues/2010-2019/2015/vol-128-no-1408/6420 CASE REPORT Sarcoidosis presenting with acute hydrocephalus in a New Zealand European female Arjun Chandna, Christopher Todd, David Murphy, Ronald Boet, Roderick Duncan Abstract Hydrocephalus as the presenting feature of sarcoidosis is extremely rare. We report the case of a 41-year-old New Zealand European female who presented with acute hydrocephalus as the first manifestation of systemic sarcoidosis. Sarcoidosis is a multisystem granulomatous disorder of unknown aetiology. Neurosarcoidosis is reported in only 5–10% of cases. 1 If neurological involvement occurs, it tends to happen early in the natural history of the disease: diagnosis can be challenging and neurosarcoidosis is frequently under- recognised.2,3 We present a case of acute hydrocephalus as the first manifestation of systemic sarcoidosis. To our knowledge this is the first such case described in New Zealand. Case report A 41-year-old New Zealand European female was admitted to hospital after the incidental finding of a blurred right optic disc margin during routine diabetic retinal screening (Figure 1). CT brain scan demonstrated “acute hydrocephalus and multiple enhancing lesions consistent with intracerebral and leptomeningeal metastases”. Figure 1. Right retinal photograph. Blurred right optic disc margin detected during routine retinal photography performed as part of diabetic screening service NZMJ 30 January 2015, Vol 128 No 1408; ISSN 1175-8716 Page 110 Subscribe to the NZMJ: http://www.nzma.org.nz/journal/subscribe © NZMA NEW ZEALAND MEDICAL JOURNAL http://www.nzma.org.nz/journal/read-the-journal/all-issues/2010-2019/2015/vol-128-no-1408/6420 On admission to neurosurgery she reported a 2-month history of lethargy, anorexia and intermittent early morning vomiting. More recently she had become unsteady on her feet, developed diplopia and right-sided weakness. Her past medical history included diabetes mellitus type 2, hypertension and asthma. On examination she had mild weakness in her right leg, with spasticity, sustained clonus and upgoing plantar reflex. She reported diplopia in all directions of gaze. Gadolinium-enhanced MRI scan of her brain and spine showed “acute hydrocephalus with diffuse nodular enhancing lesions throughout the neuraxis including at the cerebral aqueduct” (Figure 2). Differential diagnoses included carcinomatous meningitis, tuberculosis and sarcoidosis. Figure 2. Gadolinium-enhanced post-contrast T1-weighted MRI scan of brain and thoracic spine. Sagittal sections of T1-weighted MRI scan demonstrating acute hydrocephalus and diffuse nodular enhancing lesions throughout the neuraxis, including at the cerebral aqueduct and foraminae of Luschka and Magendie A chest radiograph and subsequent CT scan confirmed bilateral hilar and mediastinal lymphadenopathy. Serum calcium was 2.5mmol/L (range 2.2–2.6), angiotensin converting enzyme 30IU/L (range 12–52). Quantiferon-TB® test, and tumour marker panel were negative. She was commenced on 8mg oral dexamethasone and referred to oncology to investigate a possible malignant cause, where mediastinal lymph node biopsy confirmed granulomatous inflammation consistent with sarcoidosis (Figure 3). With a diagnosis now ascertained, neurology were consulted and advised 1g intravenous methylprednisolone followed by 60mg oral prednisone. During the following 8 days the patient deteriorated with imaging confirming progression of hydrocephalus. An external ventricular drain was inserted and later replaced with ventriculoperitoneal shunting. Subsequent improvement in her systemic and neurological symptoms was accompanied by interval reduction in ventricular size and the patient was discharged. NZMJ 30 January 2015, Vol 128 No 1408; ISSN 1175-8716 Page 111 Subscribe to the NZMJ: http://www.nzma.org.nz/journal/subscribe © NZMA NEW ZEALAND MEDICAL JOURNAL http://www.nzma.org.nz/journal/read-the-journal/all-issues/2010-2019/2015/vol-128-no-1408/6420 Two days post-discharge she represented with tachypnoea. A CT pulmonary-angiogram confirmed extensive bilateral pulmonary emboli with features of right heart strain. Sadly, resuscitation attempts, including intravenous thrombolysis, were unsuccessful and the patient died. Figure 3: Haematoxylin and eosin stained section of mediastinal lymph node. Histology from mediastinal lymph node demonstrating non-caseating granulomatous inflammation consistent with sarcoidosis Discussion Neurosarcoidosis is often considered in the differential diagnosis for patients who present with neurological symptoms in the context of a known history of sarcoidosis. Unfortunately however, neurosarcoidosis rarely has a systemic harbinger, rendering diagnosis difficult. 2 This case highlights the importance of obtaining a histological diagnosis in patients with suspected neoplastic disease. Involvement of the nervous system is reported in 5–10% of cases of sarcoidosis, 1 however post- mortem studies suggest this is an underestimate. 3 A recent Australian study reported neurological involvement in 26% of patients with sarcoidosis. 4 Hydrocephalus as the first manifestation of sarcoidosis is rare: a review of the literature reveals six previous documented cases. 5 Five of these patients were male and none were Caucasian (2 African- American, 2 Korean, 1 Japanese and 1 Malian). The only case of neurosarcoidosis described in the New Zealand medical literature is that of a 48-year-old woman presenting with a vagal 6 mononeuropathy. NZMJ 30 January 2015, Vol 128 No 1408; ISSN 1175-8716 Page 112 Subscribe to the NZMJ: http://www.nzma.org.nz/journal/subscribe © NZMA NEW ZEALAND MEDICAL JOURNAL http://www.nzma.org.nz/journal/read-the-journal/all-issues/2010-2019/2015/vol-128-no-1408/6420 Sarcoidosis carries significant morbidity. 7 Patients with neurological manifestations, particularly hydrocephalus, have increased mortality and are more likely to relapse on treatment. 8 However new treatments are emerging 9 and hence early diagnosis is crucial. Criteria are available to assist with the diagnosis of neurosarcoidosis 10 but a high index of suspicion is required in patients with otherwise unexplained neurological symptoms. Increased awareness amongst clinicians may lead to earlier diagnosis and treatment. Author information: Arjun Chandna 1*; Christopher Todd 1; David Murphy 1; Ronald Boet 2; Roderick Duncan 1. 1) Department of Neurology, Christchurch Public Hospital, Christchurch, New Zealand 2) Department of Neurosurgery, Christchurch Public Hospital, Christchurch, New Zealand Acknowledgements: The authors are grateful to the pathology and neuroradiology departments at Christchurch Public Hospital for their assistance in figure preparation. Correspondence: Dr Arjun Chandna. Email: [email protected] References 1. Stern BJ, Krumholz A, Johns C, et al. Sarcoidosis and its neurological manifestations. Arch Neurol. 1985 Sep;42(9):909–17. 2. Zajicek JP, Scolding NJ, Foster O, et al. Central nervous system sarcoidosis--diagnosis and management. QJM Mon J Assoc Physicians. 1999 Feb;92(2):103–17. 3. Manz HJ. Pathobiology of neurosarcoidosis and clinicopathologic correlation. Can J Neurol Sci J Can Sci Neurol. 1983 Feb;10(1):50–5. 4. Allen RKA, Sellars RE, Sandstrom PA. A prospective study of 32 patients with neurosarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis Off J WASOG World Assoc Sarcoidosis Granulomatous Disord. 2003 Jun;20(2):118–25. 5. Tabuchi S, Uno T. Hydrocephalus with panventricular enlargement as the primary manifestation of neurosarcoidosis: a case report. J Med Case Reports. 2013;7. 6. Jardine DL, Melton IC, Bennett SI, et al. Baroreceptor denervation presenting as part of a vagal mononeuropathy. Clin Auton Res Off J Clin Auton Res Soc. 2000 Apr;10(2). 7. Wilsher ML. Psychological stress in sarcoidosis. Curr Opin Pulm Med. 2012 Sep;18(5):524–7. 8. Luke RA, Stern BJ, Krumholz A, Johns CJ. Neurosarcoidosis: the long-term clinical course. Neurology. 1987 Mar;37(3):461–3. 9. Pereira J, Anderson NE, McAuley D, et al. Medically refractory neurosarcoidosis treated with infliximab. Intern Med J. 2011 Apr;41(4):354–7. 10. Joseph FG, Scolding NJ. Sarcoidosis of the nervous system. Pract Neurol. 2007 Aug;7(4):234–44. NZMJ 30 January 2015, Vol 128 No 1408; ISSN 1175-8716 Page 113 Subscribe to the NZMJ: http://www.nzma.org.nz/journal/subscribe © NZMA .
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