fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes E...

Osteomalacia associated with adult onset Fanconi syndrome is thought to result from hypophosphataemia due to renal phosphate loss and relative 1,25-dihydroxyvitamin D3 deficiency. In this disorder, the impaired renal phosphate uptake occurs as part of a generalized tubular defect in association with other features such as bicarbonuria, glycosuria and aminoaciduria. Fanconi syndrome is either he...

One hundred one azoospermic males were subjected to fine needle aspiration cytology (FNAC) of the testis and 11 of them underwent testicular biopsy as well. In 99 cases, the aspiration was adequate for classifying into different categories, which are as follows: Sertoli cell only syndrome (46), normal spermatogenesis (27), hypospermatogenesis (10), tubular/peritubular sclerosis (10) and maturat...

A 49-year-old man presented with arthralgias and effusion of the knees. His past medical syndrome revealed digital clubbing for 17 years (A) and an idiopathic Raynaud syndrome. Radiographs of the tibias and fibulas showed bilateral, symmetric, extended and multilayered periosteal thickening (B). Thoracic CT and cardiac ultrasound were normal, as well as inflammatory, hepatic and renal tests. In...

The renal defects resulting in a Fanconi syndrome were seen in eight Basenji dogs by measuring renal clearance and in vitro amino acid and sugar uptake and performing histopathologic evaluations. Renal tubular handling of glucose, phosphate, sodium, potassium, uric acid, and amino acids was abnormal, and in vitro uptake of labeled lysine, glycine, and alpha-methyl-D-glucoside by renal cortical ...