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protein-losing enteropathies/epileptisk anfald
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Seizures Associated With Hypocalcemia in a Yorkshire Terrier With Protein-Losing Enteropathy.
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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
Protein-losing enteropathy following the Fontan procedure in a child with intestinal lactase deficiency treated with lactose-free diet.
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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
Intractable seizures and metabolic bone disease secondary to celiac disease.
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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
Bilateral multiple exudative retinal detachments and macular edema in a patient diagnosed with synthetic cannabinoid (Bonzai) intoxication.
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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
Presumptive central nervous system cuterebriasis and concurrent protein-losing nephropathy in a dog.
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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
Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).
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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
Encephalopathy due to carnitine deficiency in an adult patient with gluten enteropathy.
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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
Hypocalcaemic seizures: sign of intestinal disease?
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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
How to treat an extensive form of primary intestinal lymphangiectasia?
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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
[Headache as atypical presentation of celiac disease: report of a clinical case].
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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
Celiac disease associated with epilepsy and intracranial calcifications: report of two patients.
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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
Experimental acute lead encephalopathy in the juvenile rhesus monkey.
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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 nephropathy and multiorgan involvement in a child with heart transplantation .
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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 blood glycoprotein syndrome].
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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
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.
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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
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