BACKGROUND Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. PHENOMENOLOGY SHOWN Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. EDUCATIONAL VALUE Proper identification of the paroxysmal events and early diagnos...

Chronic iron deficiency can be associated with nail deformities like Koilonychia and Platynychia. It can also be associated with esophageal webs (Plummer-Vinson syndrome or Patterson-Brown-Kelly syndrome) causing dysphagia in the patient. Though the pathogenesis of this association remains anecdotal and presence of these physical findings should prompt the clinician towards considering chronic ...

Background: Iron deficiency anaemia (IDA) and rest leg syndrome (RLS) are two common medical conditions in our population. There is etiologic association between the pathologies which however; has not been investigated local Objective: To determine frequency of iron anemia among patients restless syndrome. Study Design: Cross sectional study. Place Duration Study: Department Neurology, Khairpur...

Introduction: Vitamin D deficiency is a highly prevalent condition, present in approximately 30-50% of the general population. Vitamin D deficiency predisposes to insulin resistance, pancreatic beta cell dysfunction, and the metabolic syndrome. The aim of this study was to determine whether vitamin D deficiency is associated with increased risk of metabolic syndrome among adult hypertensive pat...

Introduction Cystic fibrosis (CF) occurs in approximately 1 in 2000 Caucasian births, but is rare in other races (di Sant'Agnese and Davis, 1976). In Negroes the incidence is 1 in 17 000 (di Sant'Agnese and Davis, 1976), while cases from the Indian sub-continent are even rarer (Reddy et al., 1969). Glucose 6-phosphate dehydrogenase (G-6PD) deficiency, a sex-linked disorder causing haemolysis pr...

In a patient with severe carpal tunnel syndrome and a significant deficiency of vitamin B(6), the evidence for the deficiency was an extraordinarily low basal specific activity of the glutamic-oxaloacetic transminase of the erythrocytes (EGOT). This enzyme was also deficient in pyridoxal phosphate. The patient was treated with the recommended dietary allowance of pyridoxine, 2 mg/day, for 11 we...

Metabolic syndrome has deleterious effects on the CNS, and recent evidence suggests that obesity rates are higher at presentation in children who develop epilepsy. Adiponectin is secreted by adipose tissue and acts in the brain and peripheral organs to regulate glucose and lipid metabolism. Adiponectin deficiency predisposes toward metabolic syndrome, characterized by obesity, insulin resistanc...

Sheehan’s syndrome (SS) or pituitary necrosis of the postpartum is a rare pathology and difficult to diagnose that can be life-threatening [1]. Microcytic anemia frequently associated with iron deficiency, sideroblastic anemia, inflammatory thalassemia [2] but rarely SS.