Relapsing polychondritis presenting with sero-negative limbic encephalitis.

The presented case highlights a rare instance of relapsing polychondritis (RP) manifesting as seronegative limbic encephalitis, an uncommon neurological complication. A 70-year-old female patient with a history of RP-related inflammation, along with neuropsychiatric symptoms, was diagnosed through multidisciplinary collaboration. Swift administration of steroid therapy, followed by azathioprine, led to remarkable physical and cognitive recovery. This case emphasises the importance of a multidisciplinary approach in diagnosing and treating complex autoimmune disorders with neurological manifestations.

A case of Parry-Romberg syndrome and alien hand.

Parry-Romberg syndrome (PRS) is a rare condition characterised by progressive hemi-facial atrophy. Here we present a PRS case with alien-hand syndrome, which has not previously been described in adult onset disease. On the basis of the presumed auto-immune pathology of PRS we justify the treatment strategy we successfully used in this patient. A review of the literature was extensively done for understanding the history of alien hand sign over the years.

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting.

Background. Periodic lateralised epileptiform discharges (PLEDs) are EEG patterns consisting of periodic or pseudoperiodic unilateral, focal or hemispheric epileptiform discharges at a rate of 1-2 Hz. PLEDs may be triggered by acute brain injuries or systemic metabolic changes such as fever, hyperglycaemia or electrolyte imbalance and may result in disturbance of consciousness and/or neurological deficits. Case report. A 58-year-old female with a history of focal epilepsy and deep brain haematoma presented with acute change in awareness, associated with EEG evidence of PLEDs, three days after a left internal carotid artery stenting procedure. Clinical examination, laboratory testing and MRI were unchanged with respect to pre-stenting investigations. Conclusion. In this patient, PLEDs may have been triggered by local haemodynamic changes due to reperfusion after stenting in a previously damaged brain area.

Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem.

The supranuclear paresis of the abducens system, also known as posterior internuclear ophthalmoplegia of abduction, is a very rare disorder clinically characterized by unilateral or bilateral abduction paresis sometimes associated with nystagmus of the contralateral adducting eye, slowing of abduction saccades, and intact horizontal vestibulo-ocular reflex. Here, we report a 35-year-old woman who presented transient left side abduction deficit in conjunction, as the only symptom of self-limited viral encephalitis of the brainstem. Brain MRI including DWI and ADC maps showed an area of abnormal signal intensity in the mid-right ponto-mesencephalic junction. PCR analysis of cerebrospinal fluid showed an enterovirus infection. Spontaneous clinical recovery rapidly occurred 2 days after onset. The brainstem lesion was undetectable at 5-week brain MRI follow-up.

A case of dystonia with onset during pregnancy.

We report the clinical and therapeutic approach of a case of 'dystonia gravidarum'. The patient came to our observation with neck and bilateral feet dystonia, appearing after the onset of pregnancy. She was treated with clonazepam, 0.5 mg three times a day, during the pregnancy. After delivery of a healthy full-term child by caesarean section, she was completely able to turn her neck to either side.

Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.

Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the beta-subunit of beta-hexosaminidase A and B, resulting in ganglioside GM(2) accumulation in the brain. We now demonstrate that phospholipid metabolism is altered in both cultured neurons and in brain tissue from a mouse model of Sandhoff disease, the Hexb-/- mouse. Metabolic labelling using [methyl-(14)C]choline and l-[3-(3)H]serine demonstrated reduced incorporation of [methyl-(14)C]choline into phospholipids in brain tissue but not in liver or spleen. Phospholipid mass was also reduced in brain. The activities of CTP : phosphocholine cytidylyltransferase (CCT) and phosphatidylserine synthase were also reduced in brain tissue from Hexb-/- mice, probably because of post-translational modification as no changes were observed in levels of enzyme expression. The relevance of these findings to Sandhoff disease in human patients is strengthened by observations made over 30 years ago on autopsy tissue of Tay Sachs and Sandhoff disease patients, in which reduced phospholipid levels were observed. We suggest that changes in phospholipid metabolism are not simply because of loss of neuronal tissue as a result of degeneration but rather may cause degeneration, and we discuss the possible effects that changes in phospholipid metabolism could play in the neuropathophysiology of Sandhoff disease.

The roles of ceramide and complex sphingolipids in neuronal cell function.

The roles of sphingolipids, and particularly of the complex glycosphingolipids (GSLs), the gangliosides, have been studied for many years in neurons, glia, and cell lines derived from these tissues, due to their abundance in tissues of neuronal origin. More recently, significant attention has been paid to the simple sphingolipids, particularly ceramide, glucosylceramide (GlcCer), and sphingosine-1-phosphate (S1P), each of which appears to be involved in the regulation of specific aspects of neuronal proliferation, differentiation, survival and apoptosis. In this review, we will summarize studies performed in our laboratory over the past few years using cultured hippocampal neurons in an attempt to define the precise roles of these lipids, and to define their mechanisms of action by identifying down-stream targets with which they interact. We will also discuss work suggesting that complex GSLs, such as gangliosides GM2 and GD3, can also regulate neuronal development, although the down-stream targets with which they interact are less well defined. Our work will be reviewed in light of studies from other laboratories, with particular emphasis on the use of models of sphingolipid storage diseases to determine how these lipids affect neuronal function.

The role of sphingolipids in neuronal development: lessons from models of sphingolipid storage diseases.

The study of sphingolipids has undergone a renaissance over the past decade due to the realization that these lipids are involved in a variety a biological processes, such as differentiation, apoptosis, cell growth, and cell migration. In the nervous system, sphingolipids, particularly gangliosides, have attracted particular attention as they occur at high levels and their levels change in a developmentally regulated program. Despite the fact that a large body of data has accumulated on the expression and metabolism of individual gangliosides within specific brain regions, the role of individual gangliosides in neuronal development is still poorly understood, and their specific functions are only now beginning to be elucidated. In the present article, we discuss various aspects of our current knowledge concerning the involvement of sphingolipids and gangliosides in neuronal development, and then discuss some recent findings that shed light on the role of sphingolipids and gangliosides obtained with animal models of sphingolipid and other lysosomal storage diseases.