Anti-NMDA receptor encephalitis presenting with total insomnia — A case report

Fatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement abnormalities.We report the case of a 30 year-old male patient who presented with total insomnia followed by episodes of psychomotor restlessness resembling anxiety attacks. Twenty days later, he developed refractory convulsive status epilepticus with admission to Intensive Care Unit. He progressed to a state of reduced alertness and responsiveness, presenting periods of agitation with abnormal dyskinetic movements, periods of autonomic instability and central hypoventilation. Workup revealed antibodies against N-methyl-d-aspartate receptor (NMDAR). Immunotherapy treatment led to a very significant improvement with the patient presenting only slight frontal lobe dysfunction after one year of recovery.To the best of our knowledge this is the first report of a patient with anti-NMDAR encephalitis first presenting with total insomnia. Our aim is to alert that anti-NMDAR encephalitis must be considered in the differential diagnosis of FI, especially in sporadic cases. Distinguishing the two conditions is very important as, contrarily to the fatal disclosure of FI, anti-NMDAR encephalitis is potentially reversible with adequate treatment even after severe and prolonged disease.     

Lhermitte–Duclos disease presenting with atypical positional nystagmus

We describe a patient with dysplastic cerebellar gangliocytoma (Lhermitte–Duclos disease) who presented with an acute onset of positional disequilibrium. Video-oculography in the right Hallpike position revealed rightward torsional down-beat nystagmus, initially thought to be right anterior canal benign positional vertigo. However, the presence of spontaneous nystagmus, the persistent character of the positional nystagmus and the absence of fatigability indicated central positional nystagmus, attributable to his right-sided Lhermitte–Duclos disease. These findings emphasise the need for clinicians to reconsider a central cause before diagnosing the rare anterior canal benign positioning vertigo variant.     

Familial Creutzfeldt–Jakob disease with a mutation at codon 180 presenting with an atypical phenotype

The clinical features of familial Creutzfeldt–Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD. We describe a patient with pathologically confirmed CJD carrying the V180I mutation who had atypical cerebrospinal fluid and electroencephalography findings. Similar to other prion protein mutations, this report suggests that the V180I mutation is not the exclusive determinant of the phenotype.     

Three cases of Creutzfeldt–Jakob disease presenting with a predominant dysexecutive syndrome

Journal of Neurology - Creutzfeldt–Jakob disease (CJD) is a rare, uniformly fatal prion disease. Although CJD commonly presents with rapidly progressive dementia, ataxia, and myoclonus,...     

Is lumbar spondylosis a cause of urinary retention in elderly women?

Objectives Lumbar spondylosis (LS) is a common spinal degenerative disorder which causes various types of lower urinary tract dysfunction (LUTD). However, it is not certain whether LS may cause urinary retention in elderly women. Methods In a period covering the past 3 years, we retrospectively reviewed: a) urodynamic case records of women with urinary retention (post–void residuals, PVR > 100 ml), b) the records of women with LUTD due to LS (cauda equina syndrome and spinal canal narrowing by MRI), and c) uro–neurological features of women who belonged to both a) and b). Results a) One–hundred women with a mean age of 58 years had urinary retention. The most common underlying disease was multiple system atrophy [19], followed by multiple sclerosis [13] and cervical/thoracic tumours [8]. LS was the fourth most common [5], with the highest age (71 years) of all diseases. b) Nineteen women with LUTD had LS (12, canal narrowing of 50–70%; 7 > 70 %), with a mean PVR volume of 60 ml. A fourth [5] of them had urinary retention, with severe spinal canal narrowing (all 5 > 70%). c) Thus, 5 women belonged to both a) and b). In 4 of these women, LUTD followed or occurred together with typical cauda equina syndrome symptoms such as sciatica and saddle anesthesia. However, one elderly woman presented with painless urinary retention, and absent ankle reflexes were the sole neurological abnormality. The urodynamic abnormalities underlying urinary retention included an underactive detrusor in all 5, bladder sensory impairment in 3, an unrelaxing sphincter in 2, a low compliance detrusor in one, neurogenic sphincter motor unit potentials in 2 of 4 studied, and cholinergic supersensitivity of the detrusor in one of 3 studied. Surgical decompression ameliorated urinary retention in 1 of 2 women who had surgery. Conclusions In our series, only 5 percent of the women with urinary retention had LS, but LS poses a potential risk for retention, particularly in elderly women with severe spinal canal narrowing. Preganglionic somato–autonomic dysfunctions underlie this condition. It may appear as the sole initial complaint in cases in which no other obvious neurological abnormalities are found.     

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

Niemann–Pick disease, a neurovisceral lysosomal lipid storage disorder, is a rare disorder that is unknown to many clinicians. The disease, that often has its onset during childhood or adolescence, shows a polymorphic clinical picture, including psychiatric symptoms. Because of its infrequence, Niemann–Pick disease is diagnosed with an average delay of 6 years. This report presents a case of an adolescent male whose symptoms had led to various hospitalisations and psychiatric diagnoses. When he presented with psychotic symptoms in our department, thorough diagnosis revealed Niemann–Pick disease type C1 as the underlying disease.     

A fatal case of Churg–Strauss syndrome presenting with acute polyneuropathy mimicking Guillain–Barré syndrome

A 64-year-old woman, with asthma and sinusal polyposis in her history, suddenly developed a painful polyneuropathy with diplopia. Nerve conduction studies, performed at the very onset of the neuropathy, could not definitely rule out a Guillain–Barré syndrome (GBS) and high-dose i.v. immunoglobulins were administered. Clinical and laboratory findings subsequently supported the diagnosis of Churg–Strauss syndrome; corticosteroid therapy was started and clinical stabilisation of neuropathy was apparently achieved. No indicators of unfavourable outcome were present at that time. Nevertheless, 30 days after the onset the patient acutely worsened with severe polyneuropathy relapse and fatal systemic diffusion to heart, kidney and mesenteric district, which a single cyclophosphamide pulse failed to control. This case highlights the possibility that a GBS-like onset of Churg–Strauss syndrome neuropathy should be regarded as a part of multiorgan, severe or even life-threatening vasculitic involvement, requiring the most aggressive treatments, regardless of the presence of recognised factors of poor outcome.     

Late onset Rasmussen’s encephalitis with triple pathology

Rasmussen’s encephalitis is a devastating illness characterized by intractable focal seizures due to chronic localised encephalitis. We report on a rare variant of delayed onset Rasmussen’s encephalitis with triple pathology. A 27-year-old male, who was initially diagnosed with seizures when he was 16 years old, presented with focal seizures that became refractory to multiple anticonvulsants. Multiple investigations, including subdural electrode monitoring, revealed foci of onset in the right frontotemporal region. The patient underwent right front-temporal lobectomy. Post-operatively, the seizures became more severe and he developed new epilepsia partialis continua. Treatment with intravenous immunoglobulin was unsuccessful. He subsequently underwent a right hemispherectomy that rendered him seizure free. The three pathologies identified were old ischemic changes, type II cortical dysplasia and stage II Rasmussen’s encephalitis.     

Is EEG useful in assessing patients with acute encephalitis treated with acyclovir?

EEG has been used widely in diagnosing encephalitis, as it demonstrates rather typical abnormalities, especially in herpes simplex virus encephalitis (HSVE). We analysed 204 EEG recordings from 98 consecutive acyclovir-treated patients with acute encephalitis between 1984 and 1994. Periodic complexes (PC) in the acute phase predicted poor outcome (Kendall tau 0.40, P<0.001). However, unlike in many other diseases, e.g. stroke and intracerebral haemorrhage, the diffuse slowing of the background activity at acute phase did not predict outcome (Kendall tau −0.6, P=0.35). At follow-up, the emergence of diffuse slow background activity was significantly associated with a less favourable outcome (Kendall tau 0.33, P=0.0016). Among clinical variables, only epileptic seizures early during the course of the disease correlated significantly with outcome. EEG does have value as a prognostic indicator in acute encephalitides, but it seems that diffuse slowing of background activity or irritative features acutely are not as important as previously thought, based on the experiences of the pre-acyclovir era.     

Forestier’s disease presenting with dysphagia and dysphonia

Forestier’s disease, also known as diffuse idiopathic skeletal hyperostosis (DISH), is a pathology of the vertebral bodies characterised by exuberant osteophyte formation. Symptoms range from negligible back discomfort to, less commonly, debilitating dysphagia and airway disturbances. Conservative management including analgesia, chiropractic and diet modification are common and effective treatments. However, when conservative management fails to alleviate symptoms, particularly compressive symptoms, surgical management is indicated. We report a 55-year-old man presenting with 6 months’ progressive dysphagia and dysphonia. He was managed successfully with an anterior cervical osteophytectomy without fusion. A literature review is included.     

Patients with chronic inflammatory demyelinating polyneuropathy initially diagnosed as Guillain-Barré syndrome

Progression periods for Guillain-Barré syndrome (GBS) differ from those of chronic inflammatory demyelinating polyneuropathy (CIDP), but physicians could classify patients with CIDP within 4 weeks of onset as GBS. We studied and report the frequency of GBS patients who were later diagnosed as CIDP (11/663, 2%). Plasmapheresis or intravenous immunoglobulin transiently improved all the 11 patients, who 11 progressed slowly or had a relapse beyond the 8 weeks, and the other 2 suffered a relapse between 4 and 8 weeks from the onset. Three patients had had an antecedent infectious illness. CSF albumino-cytological dissociation was detected in 6 patients within 2 weeks of onset. Recognition of the existence of such patients is important for the early diagnosis and treatment of those patients with CIDP for whom GBS has been diagnosed at onset.     

p-ANCA pachymeningitis presenting with isolated “optic neuropathy”

Isolated bilateral optic neuropathy is an exceedingly rare presentation of perinuclear-antineutrophil cytoplasmic autoantibody (p-ANCA) vasculitis. We report one such case with MRI documentation of a compressive mechanism mediated by pachymeningitis. A 69-year-old woman had a 6-month history of progressive visual failure caused by bilateral optic neuropathy. Cranial MRI showed diffuse contrast enhancement of the dura mater extending to the perioptic sheaths bilaterally with encasement of the optic nerves. Extensive laboratory study showed increased levels of p-ANCA titres and autoimmune markers. Corticosteroid treatment improved both visual acuity and the neuroradiological signs of active pachymeningitis. In conclusion, our case demonstrates that bilateral optic neuropathy may be the presenting symptom of p-ANCA-associated pachymeningitis, whose causative role may be demonstrated by MRI.     

Temporal–occipital glioblastoma presenting with Alice in Wonderland Syndrome in a patient with a long-time history of migraine without aura

ABSTRACT

Alice in Wonderland Syndrome (AIWS) is a rare perceptual disorder characterized by an erroneous perception of the body or the surrounding space. AIWS may be caused by different pathologies, ranging from infections to migraine. We present the case of a 54-year-old man, with a long-time history of migraine without aura, diagnosed with AIWS due to a glioblastoma located in the left temporal–occipital junction. To date, this is the first case of AIWS caused by glioblastoma. This case suggests that to exclude aura-mimic phenomena, a careful diagnostic workup should always be performed even in patients with a long-time history of migraine.     

Autoimmune encephalitis associated with Graves’ disease: a case report

Almost all patients who developed autoimmune thyroid disease associated with encephalopathy were diagnosed to have Hashimoto’s thyroiditis, but a few patients with Graves’ disease who developed encephalopathy have been reported. A 36-year-old female with a 10-year history of Graves’ disease had experienced three episodes of tonic–clonic seizure. At admission, the patient’s status was confused, and she also developed tactile and visual hallucinations. The cranial MRI confirmed white-matter lesion and showed subcortical high signal lesions on T2-weighted images. In EEG record, diffuse slow activity was noticed in both sides. T3 and TSH were decreased, T4 remained normal and thyroid peroxidase antibody (TPO) was evaluated to be more than 2,000 (T4 = 8.4, T3 = 12/9, TSH = 0/14, TPO >2,000). The diagnosis of autoimmune thyroid disease is probable in all patients with signs of encephalopathy with unknown origin, while they have a previous history of thyroid disease.