Relapsing polychondritis with features of dementia with Lewy bodies

We describe a 72-year old man with clinical features suggestive of dementia with Lewy bodies (DLB) who proved neuropathologically to have degeneration induced by relapsing polychondritis (RP), an autoimmune inflammatory disorder of cartilaginous tissues. There was lymphocytic infiltration of the leptomeninges, perivascular cuffing, reactive astrocytosis, and activation of microglia in multiple brain areas all consistent with an immunologically mediated process. There was widespread neuronal loss within the hippocampus, entorhinal cortex, and amygdala as well as diffuse myelin pallor of cortical pathways. Elevated levels of complement proteins and endothelial markers of inflammation were observed, which are similar to previous reports in DLB. This study demonstrates that qualitatively similar inflammation-associated neurodegeneration is present in widespread regions of the brain in a RP case presenting clinically as DLB.Senior authors Arnold Starr and David H. Cribbs contributed equally to this project.Funding supported by ADRC P50 AG16573, NIA-AG-20241 P50 AG000658, and NINDS-NS50895 (DHC)     

Relapsing polychondritis associated with meningoencephalitis: case report

Polychondritis is a disease manifesting as an episodic inflammation of cartilagenous structures throughout the body with progressive course. We describe a patient with a presentation picture of two episodes of meningoencephalitis and after the outcome with polychondritis. Neurological involvement is rare in this disease as neurologic presenting symptoms do. The diagnostic precision was determinant for a satisfactory outcome with corticosteroids and methotrexate.     

Relapsing polychondritis with an intracranial granuloma: a case report]

We report a case of relapsing polychondritis (RP) with an intracranial granuloma. A 67-year-old man developed progressive disorientation during the course of RP with left auricular chondritis and episcleritis. He had history of sinusitis and rupture of an aneurysm in middle cerebral artery. Laboratory examinations revealed high erythrocyte sedimentation rate and positive C-reactive protein. Head CT and MRI with contrast enhancement showed a mass adjacent to the falx cerebri and lesions in the frontal skull base. The mass was surrounded by extensive perifocal edema that spread mainly into the frontal white matter on both sides. Histologically, the mass displayed an inflammatory granuloma. By removal of the mass, edema decreased around the granuloma, and his disorientation improved markedly. Surgical findings revealed the granuloma was separated from sinusitis. There are a few reports on RP with an intracranial granuloma.     

Unusual association of Eales disease with multifocal neurological deficit

A man who had suffered from Eales disease at the age of 20 presented an acute Brown-Séquard spinal syndrome when he was 30, followed shortly after by paralysis of the right abducens and recurrent laryngeal nerves. Steroid treatment apparently relieved the myelopathy while the neurological deficits have remained unchanged for the past 14 years. In view of the clinical and CSF findings the neurological deficits are attributed to the same disease process as that underlying the peripheral retinal abnormalities characteristic of Eales disease rather than to multiple sclerosis.

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Sommario In un uomo, colpito all'età di 20 anni da malattia di Eales, si sono manifestate acutamente all'età di 30 anni una sindrome midollare del tipo Brown-Séquard e poi una paralisi dell'abducente e del laringeo superiore destri. La mielopatia è migliorata, apparentemente dopo terapia cortisonica, ma i deficit neuritici sono rimasti invariati a distanza di 14 anni. Gli autori, sulla base del reperti clinici e liquorali, non attribuiscono i sopradetti deficit neurologici multifocali alla sclerosi multipla ma li considerano conseguenti allo stesso processo patologico nei vasi periferici della retina caratteristico della malattia di Eales.

     

Relapsing neurological disorder associated with rubella virus infection in two sisters.

A disseminated relapsing neurological disorder presented simultaneously in two sisters. Encephalitic features were present in one case. The illness was associated with a significant increase in rubella specific IgM in both sisters. Despite the absence of a rubella rash, this increase would be compatible with a recent infection by the rubella virus as a basis for the illness, and the persistent elevation, with active antigenic stimulation. It is suggested that both patients might represent the clinical manifestations of perivenous demyelination caused by the rubella virus, which, in view of the relapsing nature of the illness, has progressed to plaque formation.     

Clinical neurological abnormalities in young adults with Asperger syndrome

Children with Asperger syndrome (AS), a neurodevelopmental disorder falling in the autism spectrum disorders, have an increased rate of neurological abnormalities, especially in motor coordination. While AS is a lifelong condition, little is known about the persistence of neurological abnormalities in adulthood. Twenty young adults with AS were compared with 10 healthy controls using a structured clinical neurological rating scale. The score for neurological abnormalities was higher in the AS group. In addition, a subscore for neurological soft signs indicating defective functioning of the central nervous system with a non-localizing value was significantly higher in the AS subjects. This preliminary study indicates that neurological abnormalities, soft signs in particular, represent a non-specific vulnerability factor for AS. Consistent with other features of AS, neurological abnormalities seem to persist into adulthood.     

Secondary abnormalities of neurotransmitters in infants with neurological disorders

Neurotransmitters are essential in young children for differentiation and neuronal growth of the developing nervous system. We aimed to identify possible factors related to secondary neurotransmitter abnormalities in pediatric patients with neurological disorders. We analyzed cerebrospinal fluid (CSF) and biogenic amine metabolites in 56 infants (33 males, 23 females; mean age 5.8mo [SD 4.1mo] range 1d-1y) with neurological disorders whose aetiology was initially unknown. Patients were classified into three clinical phenotypes: epileptic encephalopathy, severe motor impairment, and non-specific manifestations. All patients showed normal results for screening of inborn errors of metabolism. We report clinical, neuroimaging, and follow-up data. Among the patients studied, 10 had low homovanillic acid (HVA) levels and in four patients, 5-hydroxyindoleacetic acid (5-HIAA) was also reduced. Patients with neonatal onset had significantly lower levels of HVA than a comparison group. HVA deficiency was also associated with severe motor impairment and the final diagnosis related to neurodegenerative disorders. 5-HIAA values tended to be decreased in patients with brain cortical atrophy. The possibility of treating patients with L-Dopa and 5-hydroxytryptophan, in order to improve their neurological function and maturation, may be considered.     

Chromosome abnormalities in neurological diseases.

The current status of research into chromosomal abnormalities in neurological diseases is reviewed. The only possible association between chromosome aberration and neurological disorder is found in ataxia telangiectasia and in tumours of the nervous system. In the remaining diseases reviewed, no specific association was confirmed. This was expected to some extent, since the majority of these diseases (spinal muscular atrophies, muscular dystrophies, etc.) are due to single gene defects.     

POMGnT1 gene alterations in a family with neurological abnormalities

Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel POMGnT1 gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population.     

Termination of pregnancy for fetal neurological abnormalities

Introduction Prenatal screening for fetal abnormalities may identify conditions likely to result in perinatal death or in survival with a risk of handicap, for which termination of pregnancy is legal in many countries.Discussion When considering termination of pregnancy, it is crucial that prenatal diagnosis be as accurate as possible and that the prognosis of the condition diagnosed in utero is thoroughly understood by the parents. Our ability to predict postnatal outcome in borderline cases should not be overestimated. Parents should not precipitate their decision, and in some European countries, the absence of a gestational age limit at which a termination may be performed is viewed as a guarantee against hasty terminations. Maternal morbidity potentially associated with termination should be kept as low as possible. This includes maternal analgesia, and avoiding uterine trauma to preserve fertility and to prevent obstetrical complications in subsequent pregnancies. Bereavement should also be taken into account. Tests that could contribute to confirming the diagnosis or to establishing the aetiology of the abnormality, such as fetal karyotype or platelet count, should be implemented when appropriate, since post-termination genetic counselling relies on such data. Post-mortem examination is often crucial for genetic counselling and should include X-rays and gross examination of the fetus as well as brain and spine examination by a neuropathologist with expertise in the field of fetal medicine. Specific post-mortem procedures sometimes need to be planned before termination, for instance, in fetal akinesia sequence. First trimester surgical techniques and second or third trimester medical techniques of termination of pregnancy are reviewed.     

Diffusion MRI abnormalities in pediatric neurological disorders

Diffusion-weighted imaging (DWI) makes it possible to measure early changes in cellular function in the central nervous system. The purpose of this article is to discuss the diagnostic value of diffusion-weighted and diffusion tensor imaging (DTI) in different pediatric cerebral disorders. First, the principles of DWI and DTI are briefly reviewed. The clinical usefulness of these imaging techniques is then discussed using cases with pediatric neurological disorders, such as hypoxic-ischemic encephalopathy in neonates, trauma (shaken baby syndrome), encephalopathy or encephalitis in infants, posterior reversible encephalopathy syndrome and congenital brain anomaly (callosal dysgenesis). In addition, using DTI, we evaluate normal brain development, particularly in the corpus callosum and cortico-spinal tract, and discuss the application of DTI to the study of white matter in the developing brain.     

Hypoxic ischemic encephalopathy associated with neonatal seizures without other neurological abnormalities

We reported three term or near-term infants with parasagittal infarcts. Their Apgar scores were low and the amniotic fluid was meconium-stained. Resuscitation was necessary immediately after birth, but they were not stuporous and no neurological abnormalities were recognized on admission. They showed metabolic acidosis and transient hypoglycemia, and two showed hematoemesis. Seizures were observed between 2 and 15 h of age in all of them. Electroencephalography demonstrated moderate or severe depression, and CT demonstrated bilateral abnormal low densities in the border zones of the middle and posterior cerebral arteries. Two of them had mental retardation and epilepsy, although the other exhibited normal development. Our infants suggest that neonatal seizures can also occur in infants with hypoxic ischemic encephalopathy without apparent neurological abnormalities.