Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 ± 51.4) than in the adult patients (450.0 ± 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children.

The neutrophil-to-lymphocyte ratio as a marker of peripheral inflammation in progressive supranuclear palsy: a retrospective study.

BACKGROUND AND PURPOSE: To evaluate the neutrophil-to-lymphocyte ratio (NLR) levels in the peripheral blood of patients with progressive supranuclear palsy (PSP), and to compare them with levels in patients with idiopathic Parkinson's disease (PD) and healthy controls. METHODS: Twenty-one patients with probable PSP, 42 with PD, and 40 age-matched healthy volunteers were enrolled in the study. Demographic data and duration of disease, comorbid systemic disease, and smoking status were recorded. NLR was calculated by dividing neutrophil count by the lymphocyte count. RESULTS: The mean age of patients with PSP was 68.28 ± 8.7 years and the mean duration of disease was 5.09 ± 2.52 years. The mean age in PD group was 66.59 ± 9.54 years and 65.05 ± 6.52 years in the healthy volunteer group. There were no significant differences in ages between the PSP group and the other two groups (p = 0.498; p = 0.107, respectively). The PSP group consisted of four female and 17 male patients. The PD group comprised 19 female and 23 male patients. There were 18 female and 2 male in the healthy volunteer group. The mean NLR value in the PSP group was significantly higher than in the PD group and healthy controls (p = 0.023; p = 0.001, respectively). The mean NLR value in the PD group was not significantly different from the healthy controls (p = 0.593). CONCLUSION: NLR values were found higher in the PSP group. The result of this study revealed the existence of peripheral inflammation in patients with PSP.

Stereological Evaluation of the Optic Nerve Volume in Alzheimer Disease.

Optic nerve damage occurs in Alzheimer disease (AD) related to the loss of the retinal ganglion cells that contribute fibers to the optic nerve and reduction of the density of axons of the optic nerve. In this study the authors evaluated optic nerve volume changes and the relation between the cerebrum and optic nerve volumes in AD patients. The study evaluated the volumetric measurements of optic nerve by applying the stereological method on magnetic resonance images (MRI). It included age-matched study and control groups, which were composed of 20 patients with probable AD and 20 healthy subjects, respectively. MRIs were analyzed by using the point-counting approach holding Cavalieri principle. There were statistically significant optic nerve volume reduction and cerebral atrophy in AD patients when compared with the age-matched control subjects (P = 0.013, P < 0.001, respectively) but there was no correlation between the optic nerve volume and cerebral volume in AD patients (r = 0.326, P = 0.160). There was a difference between optic nerve volumes of AD and control subjects. The stereological evaluation of optic nerve volume is of importance for both clinicians and anatomists and it can provide valuable information in the evaluation of morphological changes of AD in vivo.