9 полученные результаты
We report a hypertrophic pyloric stenosis case with an unusual initial presentation of seizures and Bartter's syndrome like symptoms. This case suffered from vomiting, diarrhea and poor appetite for several days, and seizures developed after these symptoms. From laboratory tests, hypochloremic and
One infant with congenital hypertrophic pyloric stenosis developed severe hypoglycemia with lethargy, irritability, cyanosis, and convulsions in the immediate postoperative period after Fredet-Ramstedt pyloromytomy. A likely hypothesis for this mechanism has been reported as hepatic glycogen
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures. Co-existence of MoCD and pyloric stenosis is previously reported as a coincidence or common etiology. The etiology of the two conditions is unclear;
Initially described as a rare MCA/MR syndrome occurring only in boys, due to a recessive mutation on the X chromosome [Opitz and Kaveggia, 1974], the FG syndrome (FGS) now emerges as a more common disorder also occurring in girls. Based on over 50 reported cases, FGS is associated with developmental
Toriello Carey syndrome is a rare recessive autosomal disease whose clinical manifestations are more evident in males. Some authors report that the general characteristics of this disease are agenesis of the corpus callosum, mental disability, convulsions, atrial septal defect, pulmonary artery
Terminal deletions of chromosome 2 with breakpoints at or within band 2q37, ranging from visible abnormalities to cryptic, subtelomeric deletions, have been recognized with increasing frequency among children with mild-moderate mental retardation, characteristic facial appearance, and behavioral
Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease. We report on a family with typical OSCS in the mother, a maternal aunt and the grandmother, and multiple
A 60-year-old man was diagnosed with Stage IV gastric cancer with pyloric stenosis, peritoneal dissemination and multiple bone metastasis. One course of low dose CDDP and 5-FU, and 3 courses of S-1 and CDDP were carried out. Although a partial response was obtained, a large amount of ascites
Urea Cycle Disorders (UCD) is an inborn error of urea synthesis in which ammonium and other nitrogenous precursors of urea accumulate leading to episodic coma and a high mortality rate. Therapy with peritoneal dialysis, essential amino acids or their nitrogen-free analogues has increased survival.