A 22-year-old African-American woman who was 3 months post-partum presented with 2 months history of intractable hiccups and vomiting. She had four emergency room visits at various hospitals. Evaluation revealed normal blood counts and metabolic profile. She was never admitted. She was prescribed various anti-emetics, including thorazine, and advised to follow up with a gastroenterologist. Her initial examination was unrevealing.
On her fifth presentation, she was admitted to our hospital for intractable hiccups and a new complaint of drooling and trouble swallowing. She admitted a weight loss of 20 pounds in 2 months. The patient was hemodynamically stable. On physical examination, the patient looked thin and was constantly having hiccups. Oral examination was normal. Abdominal exam was unremarkable. No neurological deficits were noted. Routine laboratory showed that she had normal liver, kidney, thyroid functions, and cell counts. CT scan of the neck was normal, ruling out mechanical obstruction causing drooling and dysphagia. Myasthenia gravis was considered with bulbar muscle involvement. Serologies, including acetylcholine receptor antibodies, were subsequently negative. Neurologic consultation noted vertical nystagmus. MRI of the brain (T2-weighted and FLAIR) showed a hyperintense non-enhancing lesion in the posterior medulla as well as a hyperintense lesion in the splenium of corpus callosum (Figs. 1 and 2). However, these two lesions were distinct in nature. The medullary lesion was not visible on diffusion-weighted MRI image while the splenial lesion was clearly visible (Fig. 3). This led to further diagnostic dilemma. Lumbar puncture revealed cerebrospinal fluid having pleocytosis with lymphocytic predominance (WBC 160, lymphocytes 96%, monocytes 3%, and neutrophils 1%). No evidence of infections such as tuberculosis, HIV, listeria, herpes simplex, Cryptococcus, histoplasmosis, Lyme, infectious mononucleosis, and West Nile Virus was present. CSF angiotensin-converting enzyme level (for sarcoidosis) was normal. There were a total of three oligo-clonal bands in the cerebrospinal fluid (reference range zero) with zero bands in serum. CSF flow cytometry was negative for lymphoma. MRI of the spine did not reveal any lesions.
The patient was started on methyl prednisone (1 g/day) for possible multiple sclerosis (MS). Due to lack of response on day 4, neuromyelitis optica-spectrum disorder (NMO-SD) was considered as was vasculitis causing stroke or CNS Bechet's disease. A CT angiogram of the brain was normal. Autoimmune workup showed strongly positive Sjogren's antibody (SS-A: 163 units) and weakly positive ANA (1:160). She did not have any sicca symptoms like dry eyes or mouth; hence, CNS Sjogren's was less likely. She was started on IV immunoglobulins (0.4 g/kg/day) for 5 days for potential NMO-SD. NMO antibody levels of blood and CSF were sent out. After two cycles of IV immunoglobulins, her hiccups and vomiting had subsided. Her secretions were decreasing. A PEG tube was placed due to oropharyngeal dysfunction on barium fluoroscopy. Rituximab (1 g infusion) was added to her regimen. NMO titers with ELISA testing were subsequently positive (9.9 Units/ml) (Table 1). A repeat MRI showed resolution of splenial lesion with persistent medullary lesion. A repeat lumbar puncture showed improvement: WBC 79, lymphocytes 99%, neutrophils 1%, and zero oligoclonal bands. The midline splenial lesion was suspected to be posterior reversible encephalopathy syndrome (PRES), which has been associated with NMO. A diagnosis of NMO-SD with isolated medullary involvement without optic neuritis and transverse myelitis was made. She completed two cycles of rituximab. At her 1 month follow-up her dysphagia had significantly improved.