S100B is an astrocytic calcium-binding protein which has been proposed as a biochemical marker of brain damage or dysfunction in acute and chronic diseases. We investigated whether serum S100B levels could be related to systemic lupus erythematosus (SLE) activity. Patients were grouped as having inactive SLE (ISLE), active SLE without central nervous system (CNS) involvement (ASLE), or active S...

gamma-Glutamylcysteine synthetase is one of the enzymes of glutathione (GSH) synthesis. A deficiency of this enzyme has been found only once previously in humans: it was associated with spinocerebellar degeneration and hemolytic anemia. We report the case of a woman, daughter of fifth cousins, who was gamma-glutamylcysteine-synthetase-deficient. Modest decreases in the amount of GSH in cultured...

Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature. History, clinical and radiologic findings and consanguinity are important features to be considered when a specific diagnosis is investigated. Spondyloenchondrodysplasia is a very rare skeletal dysplasia characterized with enchondromas in th...

Tuberculous meningitis (TBM), the most devastating manifestation of tuberculosis, is often missed or overlooked because of nonspecific symptoms and difficulties in diagnosis. It continues to be an important cause of neurologic handicap in resource-poor countries. Owing to the suboptimal performance of diagnostic tests of TBM, diagnosis relies on thorough history, clinical examination, and relev...

Gnathostomiasis is a foodborne zoonotic helminthic infection caused by the third-stage larvae of Gnathostoma spp. nematodes. The most severe manifestation involves infection of the central nervous system, neurognathostomiasis. Although gnathostomiasis is endemic to Asia and Latin America, almost all neurognathostomiasis cases are reported from Thailand. Despite high rates of illness and death, ...

RATIONALE Posterior reversible encephalopathy syndrome (PRES) is a cliniconeuroradiological entity associated with vasogenic edema. Symptoms may include headache, seizures, altered mental status, and visual impairment. Patients with PRES generally present with neurological deficits. PATIENT CONCERNS Here, we report an unusual case of a 42-year-old man who presented with sudden bilateral visio...

RATIONALE Diabetic oculomotor nerve palsies, also called ischemic third nerve palsies, are the most common etiologic subset of oculomotor nerve palsy in adults. Diabetic oculomotor nerve palsies typically present with ptosis and diplopia, but pupillary function is often spared. The oculomotor nerve separates into superior division and inferior division, with the superior division innervating th...

INTRODUCTION Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy. CASE PRESENTATION A 37-year-old Portuguese Caucasian man with ...

Though rare, direct invasion of CNS by the myeloma cells has been reported. Currently, 70 cases of leptomeningeal myelomatosis (LMM) and intraparenchymal plasmacytoma have been published [1,2]. Schluterman et.al. published a case series of 23 patients. They were diagnosed up to 29 months (median, 13 months) after the initial diagnosis of MM. The presenting symptom in 65% of the patients was AMS...

BACKGROUND Parsonage-Turner syndrome is a rare and painful peripheral neuropathy that usually presents as brachial plexus neuritis and also has other nerve involvement. METHODS AND RESULTS Herein, we report the case of a patient with right recurrent nerve palsy as the first clinically isolated manifestation of underlying Parsonage-Turner syndrome. Idiopathic dysphonia was the only symptom pre...