Case Study in 2009

Susac syndrome is characterized by a classic triad of symptoms-encephalopathy, branch retinal artery occlusions and hearing loss. Dörr and colleagues present a case of Susac syndrome that highlights how this condition can be easily missed when the triad of symptoms develops successively. Their findings suggest that optical coherence tomography, which detected axonal damage and a reduction of macular volume, could be a valuable complementary tool for the follow-up of patients.

Complete brachial plexus injury leads to paralysis and loss of sensation in the affected arm and hand. Carlstedt et al. present a long-term follow-up assessment of a 9-year-old boy who underwent spinal cord surgery after sustaining such an injury in a motorcycle accident. The patient showed recovery of hand motor function without restoration of sensation.

Chik et al. describe the case of a woman who developed a severe 'thunderclap' headache, followed by generalized tonic–clonic seizures, shortly after giving birth. A head CT scan revealed a subarachnoid hemorrhage, and an angiogram showed areas of vasoconstriction in the cerebral arteries that were consistent with a diagnosis of postpartum cerebral angiopathy.

Rasmussen encephalitis is a chronic inflammatory disease that results in progressive degeneration of one cerebral hemisphere. Immunotherapies for this condition have traditionally targeted T-cell-mediated immunity, but Thilo et al. now report a case in which effective seizure control was achieved through use of the anti-B-cell antibody rituximab.

The neuroendocrine tumor pheochromocytoma is usually detected via measurement of levels of catecholamines and their metabolites in plasma and urine. In patients with Parkinson disease, however, the results of these tests can be confounded by dopaminergic medications. Mehtaet al. present the case of a 59-year-old man with Parkinson disease in whom a diagnosis of pheochromocytoma was confirmed by means of structural and functional imaging.

Sips and colleagues describe the onset of intravascular lymphomatosis (IVL) of the brain in a 77-year-old retired research pharmacologist with a history of anemia, pancytopenia, and a recently confirmed diagnosis of myelodysplastic syndrome (MDS). The authors discuss the mechanisms of IVL and MDS and possible relationships between the conditions, as well as a beneficial effect of treatment of IVL with high-dose combination chemotherapy and rituximab

Biebl et al. describe the case of a 12-year-old boy who presented with fever, malaise and fatigue, and was diagnosed with Epstein–Barr virus (EBV) encephalitis when his cerebrospinal fluid tested positive for EBV. Despite intensive care and antiviral treatment, the patient died 1 month after the initial presentation. The authors suggest that EBV encephalitis should be considered in the differential diagnosis when a young patient presents with acute neurological illness of uncertain etiology.

Posterior reversible leukoencephalopathy syndrome (PRES) is a complex disorder with many hypothesized mechanisms. Here, Bhatt and colleagues present a patient who developed PRES subsequent to administration of chemotherapy. The authors discuss in detail the potential causative mechanisms for PRES, emphasizing the need for early recognition of the syndrome and prompt withdrawal of the offending agent in affected patients

Dinakar and Höke report on the case of a woman who presented to a neuromuscular clinic with a history of progressive stiffening and painful spasms of the lower extremities. The patient was diagnosed with paraneoplastic fasciitis–panniculits syndrome associated with recurrence of gastric adenocarcinoma. The symptoms improved on initiation of chemotherapy and worsened on discontinuation of chemotherapy.

Zinc overload is an unusual cause of copper-deficiency myeloneuropathy, in which affected patients have low serum copper and ceruloplasmin levels and high serum zinc levels. This Case Study describes a patient whose copper-deficiency myeloneuropathy was secondary to long-term use of a denture cream that contained high levels of zinc.

Maternal herpes simplex virus encephalitis is a life-threatening condition for the mother and fetus. To treat the maternal disease and prevent infection in the neonate, a multidisciplinary approach is needed. In this Case Study, Sellner and colleagues demonstrate how with early diagnosis, prompt initiation of antiviral treatment, and suitable neurocritical care, a favorable outcome can be achieved in both mother and child.