Contrast enhancement of brainstem tracts in Zellweger spectrum disorder: evidence of inflammatory demyelination?

Zellweger spectrum disorder, resulting from mutations in the peroxisome assembly mechanism, is genetically heterogeneous and phenotypically varied in disease characteristics and severity. In addition to manifesting gyration anomalies, affected individuals typically have white matter abnormalities ranging from hypomyelination in infancy to a more diffuse demyelinating leukoencephalopathy pattern in those surviving into childhood. Here we report a unique presentation in a 2/-year-boy with acute neurological deterioration and MRI demonstrating avid contrast enhancement suggesting inflammatory demyelination in the brainstem.

A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy.

AIM: The aim of the study was to analyze the clinical and laboratory characteristics of Indian patients having dysferlinopathy. METHODS AND MATERIAL: Patients with limb girdle muscular dystrophy (LGMD) were prospectively studied. History, examination, and laboratory evaluation, including creatine kinase, electrophysiology, and muscle biopsy with immunocytochemistry, was carried out. RESULTS AND CONCLUSIONS: Fourteen patients (14.58% of patients with LGMD) had dysferlin deficiency. The mean age at onset was 19.9 years. Nine patients had distal presentation and in the remaining 5 patients, it was proximal. Asymmetry of muscle weakness was seen in 6 patients. Three patients experienced initial calf pains with transient hypertrophy. Gastrocnemius and tibialis anterior muscles were almost similarly affected. The brunt of proximal weakness was on iliopsoas, hip adductors, hamstrings, and quadriceps muscles. Upper limbs were mildly affected. Biceps lump was seen in 4 patients. The phenotype was mild and ambulation was maintained in all patients, many years into the illness.

A study of prostane in the treatment of benign prostatic hyperplasia.

A clinical trial was conducted in a study group of 70 males diagnosed with symptomatic benign prostatic hypertrophy (BPH) (synonym of benign prostatic hyperplasia). They were administered Prostane, a herbal formulation, at a dose of two tablets a day for 1 year and monitored every 4 months during the study period. Analysis of the results showed an improvement in the symptom score of the American Urological Association symptom index rating. There was total relief in pain and haematuria in all the patients (100%); dribbling of urine decreased in 67%, dysuria in 50%, urgency in 60% and hesitancy in 40%. Blood urea levels were within the normal range in 70% of the patients and in the range 31-40 mg/dL in the remaining patients of the study group. Serum prostate specific antigen levels returned to normal in 56% of patients and were in the range 4.1-5.0 ng/mL in 25% of patients. There was a decrease in prostate specific antigen values which were >6 ng/mL in 9 patients at the commencement of the trial. Uroflowmetry studies showed that the peak flow increased from 12.6 to 30.7 s (p<0.001) and the void volume from 60.72 to 660 mL (p<0.001), the latent period reduced from 12.78 s to 2.61 s; the flow time from 57.01 s to 20.17 s and the residual volume from 620 mL to 20 mL (p<0.001). From these results, it is evident that Prostane was effective in alleviating symptoms, reducing prostate specific antigen values and normalizing uroflow dynamics in patients with benign prostatic hypertrophy.