Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis, caused by impaired hydroxylation of cholesterol side chains due to deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1), leading to accumulation of cholestanol and cholesterol in brain and other tissues. Elevated plasma cholestanol serves as a key marker for the clinical diagnosis of CTX. In the present report we describe a young man with CTX who was on high dose steroids for a misdiagnosed chronic inflammatory demyelinating polyneuropathy (CIDP) and had normal level of serum cholestanol.

[Optic disc drusen and acute vision loss].

Optic disc drusen (ODD) are calcified nodules within the optic nerve head. These are products of degenerated retinal ganglion cells axoplasmic transport, also known as hyaline or colloid bodies. They are mainly encountered as an incidental benign finding, or as a benign cause of swollen discs (in the differential diagnosis of papilledema).

Electrogastrography in patients with Parkinson's disease.

Background: Impaired gastrointestinal motility in Parkinson's disease may affect absorption of levodopa and contribute to the disabling response fluctuations (RF). In this study gastric myoelectric activity was recorded with electrogastrography in patients with PD and correlated with the duration, severity and the presence of RF.

Method: Electrogastrography (EGG) was performed in 36 patients with PD of which 22 were men.

Multiple sclerosis in children.

Multiple sclerosis (MS) is traditionally the domain of adult neurologists due to its characteristic presentation during early adult life. Although descriptions of infants with MS appeared in the beginning of the last century and the first autopsy was described even earlier, it was not until 1980 that childhood onset MS was recognized and subsequently well characterized. In spite of this, the awareness of pediatricians and pediatric neurologists to the occurrence of MS especially in infants and young children is still unsatisfactory.

[Pseudotumor cerebri (PTC--an update)].

Pseudotumor cerebri is a condition of intracranial hypertension without localizing signs except for papilledema with normal intracranial contents and normal cerebrospinal fluid constituents. It is seen more frequently in women than in men (8:1) especially women are of childbearing age, and in 90% of cases of obesity. The most common symptoms are headache and visual obscuration.