Case presentation
A 49-year-old woman was admitted to the neurology department of a teaching hospital with progressive complaints of gait disturbance, urinary incontinence, apathy, bradyphrenia and short-term memory impairment. Within 5-6 weeks she became unable to walk. Her medical history revealed hypertension, dyslipidemia, transient ischemic attacks (TIA’s) and a pontine stroke three years earlier. She never fully recovered from her pontine stroke with persistent complaints of cognitive impairment, fatigue and some difficulty walking. Computed tomography (CT) was performed (fig 1 matter lesions and suspicion of vasculitis related findings) showing quadriventricular hydrocephalus compared to imaging one year earlier, as well as confluent white matter changes, most notably in the deep white matter of both frontal lobes. Repeated lumbar punctures with normal opening pressures (10-13 mmHg) temporarily improved her clinical condition, which was objectified with a gait analysis and the cognitive complaints and incontinence improved subjectively as well. The cerebral spinal fluid (CSF) analysis showed a mild lymphocytic pleocytosis (16*10E6/l), with an erythrocyte count of 0, normal glucose (2,2 mmol/l), slightly elevated proteins (0,94 g/l), albumin (655mg/l) and IgG (98 mg/l), intrathecal igG was 0mg/ml, with 5 IgG oligoclonal bands in CSF and 2 in serum. Cell count showed 0% polymorphonuclear cells and 100% mononuclear cells. Infectious and immunologic screening in CSF was negative.
Magnetic resonance imaging (MRI) of the brain confirmed the hydrocephalus and frontal white matter changes, but also showed progressive white matter changes in the other lobes, basal nuclei and cerebellum compared to earlier imaging. On sagittal imaging, CSF pulsation artifacts could be appreciated in the Sylvian aqueduct, but not in the foramen magnum or around the median or lateral apertures of the fourth ventricle. Together with dilatation of the fourth ventricle and ‘ballooning’ of both lateral apertures, this suggested an obstruction of the fourth ventricle CSF-outflow (fig 2). Contrast-enhanced MRI was performed later, showing linear and patchy enhancement within the posterior cranial fossa and basal regions of the brain (fig 3). The patient was referred to the neurosurgery department for ventriculoperitoneal shunt (VPS) placement. Intracranial pressure appeared to be slightly elevated during surgery, although not measured.
Analysis of peroperative obtained CSF showed no malignant cells; a fluorescence-activated cell sorting (FACS) -analysis could not be performed due to the low cell-count. Due to the differential diagnosis of leptomeningeal metastases, basal leptomeningitis (including granulomatous disease), vasculitis, lymphoma, auto-immune or paraneoplastic pathologies, a PET-CT was performed. The PET-CT showed supraclavicular, mediastinal and parailliacal lymphadenopathy. An ultrasound-guided puncture was performed in the supraclavicular lymph node. Histological examination showed a granulomatous disease with a strong preference for sarcoidosis (fig 4). This was confirmed by a second puncture of one of the PET-positive lymph nodes. Both a Mantoux test and a PCR for Mycobacterium tuberculosis proved negative and tuberculosis was thus excluded.