Max R. Lowden

Familial Creutzfeldt-Jakob disease presenting as epilepsia partialis continua

Creutzfeldt-Jakob disease (CJD) is a rare disorder caused by prions that can affect any part of the central nervous system. It is characterized by a long incubation period, but once symptoms start there is a progressive neurological decline. Clinical features include dementia, ataxia and myoclonus (startle), among others. We report a biopsy-proven case of familial CJD (fCJD) presenting with continuous focal seizures, epilepsia partialis continua (EPC), as the initial presentation. CJD is an unusual neurological disorder with an incidence of approximately one case per million population (Prusiner 2001). The disorder is due to neuronal degeneration resulting from the accumulation of a pathological isoform (PrP) of the prion protein (PrPc). Patients with fCJD have mutations in the gene encoding PrPc (PRNP) (Vercueil 2006, Collins et al. 2004). This fCJD represents 10-15% of CJD cases making the sporadic form more common 85-95% (Parry et al. 2001). During the course of the disease myoclonus has been reported in 88% of cases, and epileptic seizures (partial seizures, generalized status epilepticus) in 8% (Vercueil 2006). Periodic sharp wave complexes (PSWC) are uncommon in fCJD and occur in about 10% of patients (Wieser et al. 2006).

Looks like a Stroke, Acts like a Stroke, but It's More than a Stroke: A Case of Cerebral Mucormycosis

Mucormycosis is a fungus that exhibits angiocentric growth and can cause a thrombotic arteritis. Infection with this organism is uncommon and cerebral involvement is most often secondary to direct invasion through the paranasal sinuses. Here, we present a case of mucormycosis with cerebral involvement without sinus disease, which resulted in ischemic stroke with rapid progression resulting in death.

Pyridoxine Toxicity Small Fiber Neuropathy with Dysautonomia: A Case Report

Pyridoxine (vitamin B6) toxicity is a well-known cause of primary sensory, length-dependent, axonal polyneuropathy. Although sensory symptoms predominate, autonomic symptoms have also been reported in some cases. To date, there is no objective evidence of autonomic dysfunction reported in the literature. We present the case of a 41-year-old woman with 2 years of progressive burning pain, numbness, tingling, and weakness in a stocking-glove distribution who was found to have severe pyridoxine toxicity. Concurrent presence of large and small fiber nerve dysfunction was noted in the form of abnormal electromyography/nerve conduction study demonstrating a chronic sensory polyneuropathy and autonomic testing demonstrating abnormal responses to quantitative sweat testing and cardiovagal function testing. This case highlights the need for consideration of small fiber nerve damage by obtaining autonomic testing in cases of pyridoxine toxicity.

Teaching NeuroImage: Idiopathic hypertrophic spinal pachymeningitis

A 42-year-old woman had progressive numbness from both feet to mid chest for 2 weeks. Examination showed a sensory level at T8, no weakness, and brisk reflexes throughout. MRI showed T2–T5 dural thickening (figure 1). Testing revealed an elevated …

Atorvastatin as novel treatment for neuropathic pain: a case report.

Introduction:Managing neuropathic pain can be very challenging, with standard medical therapies often providing inadequate relief. It has recently been reported in the literature that statins alleviate neuropathic pain in the rat model. We present a case report in which an above-the-knee amputee achieved relief of his neuropathic stump pain with atorvastatin. Case Report:We describe the case of a 50-year-old man with a 12-year history of chronic neuropathic stump pain and sporadic phantom limb pain following an above-the-knee amputation. For 11 years the pain was managed with gabapentin 300 mg 3 times daily plus oxycodone 10 mg twice daily. He autonomously weaned himself to gabapentin 300 mg once daily and oxycodone 10 mg once daily, exacerbating his stump pain in the process. After starting atorvastatin 20 mg once daily for hypercholesterolemia, he immediately experienced decreased intensity of his stump pain, but his phantom pain persisted at its usual intensity. Conclusions:More studies are needed to characterize the analgesic effects of statins better. In patients who have neuropathic pain refractory to traditional treatment options or, rather, decline traditional treatment options, statin therapy may be helpful.

Images in Neuroscience: QuestionA patient with new onset seizures

MRI and the electroencephalogram were abnormal as already mentioned. Her cerebrospinal fluid analysis was positive for herpes simplex virus type 1 (HSV-1) polymerase chain reaction. The patient was treated with acyclovir and, at the time of discharge, had no headaches or periods of confusion. Herpes encephalitis is the most common cause of fatal sporadic encephalitis in the USA in all age groups. The etiological agent beyond the neonatal period is HSV-1. The clinical presentation can include headache, fever, focal neurological deficit, and seizures. The development of symptoms often occurs over a few days, but they may be stroke-like in evolution. As the process develops, progressive obtundation takes place, and focal disturbances in the form of

A monofocal pontine lesion

The patient was admitted for confusion and a resultant tracheal laceration sustained after her fall which was complicated with subcutaneous emphysema and infection. Diagnostic studies revealed normal serum electrolytes, cerebrospinal fluid study, vitamin B12 level, and tests for rheumatological diseases. Chronic alcoholism was felt to be the cause of the central pontine myelinolysis (CPM). The patient improved significantly with antibiotics and surgical tracheal repair and was discharged with minimal memory residual deficits. Repeat MRI of the brain more than 6 months later showed decreased but persistent hyperintensity in the midpons (Fig. 1). CPM is most commonly associated with: alcoholism, 39.4% of patients; rapid reversal of hyponatremia, 21.5%; and liver transplantation, 17.5%. Prognosis for CPM is reported to be invariably fatal but patients with complete recovery with mild impairment have been seen. Three subtypes of these brain demyelinating diseases are known: (i) CPM, confined to the pons; (ii) extrapontine myelinolysis (EPM); and (iii) osmotic demyelinating syndrome (ODS), in which CPM and EPM are both present. Adult pontine gliomas are rare tumors that usually present clinically with gait disturbance, headaches, weakness of limbs, and cranial nerve involvement. MRI findings include a non-enhancing diffusely infiltrative mass, enhancing localized mass, and isolated tectal tumor. The absence of these findings in our patient made the diagnosis of a pontine glioma unlikely. Pontine infarctions usually present with findings that may include ipsilateral peripheral cranial nerve palsies, contralateral movement disorders, sensory disturbances, and pure motor hemiparesis or hemiplegia. MRI findings typically include a well-demarcated hyperintensity in the pons on T2-weighted MRI with a corresponding hypointensity on T1-weighted MRI. Multiple sclerosis is a chronic, persistent inflammatory–demyelinating disease of the central nervous system that typically presents as an acute clinically isolated syndrome attributable to a monofocal or multifocal demyelinating lesion,

Teaching NeuroImages: Superficial siderosis

A 47-year-old man had progressive lower extremity weakness and incoordination for 2 years. Examination showed bilateral proximal lower extremity weakness, cerebellar ataxia, and brisk reflexes throughout. Cranial nerve examination showed hearing impairment. MRI showed …

Chronic Non-Exertional Myalgia and Myoadenylate Deaminase Deficiency: a Possible Association

Myoadenylate deaminase deficiency is noted in skeletal muscles. It generally presents with exertional myalgias, fatigue and weakness. We present a patient who complained of constant pain unrelated to activity with biopsy finding consistent of myoadenylate deaminase deficiency. Keywords Myoadenylate deaminase deficiency; Myalgia; Pain