protein-losing enteropathies/癲癇性発作

A 7 yr old, male, castrated, Yorkshire terrier was presented on emergency for an acute onset of seizure activity. The owner also reported that the dog had previously exhibited other symptoms, including intermittent vomiting, diarrhea, and anorexia for several yr. The initial workup revealed a marked

A 12-year-old girl presented with a protein-losing enteropathy. Symptoms started 4 weeks after undergoing the Fontan procedure at the age of 1.5 years for mitral atresia, ventricular septal defect, and double-outlet right ventricle. Upon referral for 3 weeks of rehabilitation after multiple

Celiac disease (CD) is Gluten sensitive enteropathy with a wide spectrum of severity and protean clinical manifestations. Patients with atypical (non-diarrhoeal) presentations are missed as the diagnosis of Celiac Disease is not considered. We present three young girls (ages 18, 19, 23 at

OBJECTIVE To report the first case of a patient with bilateral multiple exudative retinal detachments and macular edema after smoking Bonzai. METHODS A 17-year-old girl presented with a complaint of a sudden onset of reduced vision in both eyes. She was admitted to the emergency service 3 days ago

OBJECTIVE To describe the clinical course and successful management of a dog suspected to have central nervous system (CNS) Cuterebra larval migration and concurrent protein-losing nephropathy (PLN). METHODS A 1-year-old castrated male mixed breed dog was diagnosed with presumptive CNS cuterebriasis

MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing enteropathy, hepatopathy, and thrombotic events, whereas neurologic development remains unaffected. Dietary supplementation of mannose can reverse clinical symptoms by

A 48-year-old male patient had two episodes of fever, headache, confusion and seizures following an upper respiratory tract infection. Electroencephalography (EEG) revealed diffuse slowing of background activity. Plasma free carnitine and serum lipid levels were low; fecal fat content and serum

We describe a baby admitted with convulsions, fever, low protein level and coagulation abnormalities where congenital intestinal lymphangiectasia was confirmed by endoscopy and histology. Treatment with a low fat diet, supplemented with medium chain triglycerides (MCT), resulted in a disappearance

We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia, which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropathy. The patient presented with a grand mal seizure caused by malabsorption-derived

Coeliac disease (CD) is a gluten dependent enteropathy with genetic predisposition. The introduction of the gluten with the diet leads to a damage of the intestinal mucosa losing the ability of absorption. Together with the "classic forms", in wich the intestinal symptomatology is prevalent, there

We describe two young adult patients with seizures and cerebral calcifications since childhood, diagnosed as Sturge Weber syndrome, who also had gluten enteropathy. Although the calcifications were located in regions similar to calcifications of Sturge Weber cases, many of the features of the

Lead subacetate (0.5g) and 1000 units of vitamin D were given three times a week to four newly-weaned rhesus monkeys. In addition, two animals received only the vitamin D. The poisoned animals had an increase in the urinary excretion of delta-aminolevulinic acid, an elevated content of lead in the

BK virus is a known cause of renal failure in kidney transplant recipients, but there is little data regarding its effect on native kidneys in heart transplant patients. Here, we describe the case of a child who underwent heart transplantation and was later diagnosed with BK virus with multiorgan

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the

OBJECTIVE Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. METHODS Clinical findings at diagnosis, GBA mutations, and clinical