7 tulemused
A 6-month-old, 4-kg, dehydrated girl, an Indian native, was admitted with recurrent episodes of diarrhea that had occurred since age 2 months. She had stopped breastfeeding. She had also had concomitant vomiting and loss of appetite. Later, the mother noticed progressively increasing erythematous
The urea cycle is the major metabolic pathway for excretion of waste nitrogen. Ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. It is a hereditary-X-linked disease with over 150 mutations described. Ornithine transcarbamylase deficiency causes vomiting, lethargy,
A male neonate was born to a sixth-gravida mother with a history of four early-neonatal deaths. On day 21 of life, the patient was admitted for poor feeding, vomiting and encephalopathy. Final diagnosis of propionic acidaemica (propionylcarnitine, 17.67 μmol/L) was made. He was managed by peritoneal
Following a febrile illness with nasal discharge and vomiting a 1.5-year-old girl developed monomorphous erythematous papular lesions on the face, buttocks and extremities. A diagnosis of Gianotti-Crosti syndrome on the basis of an Epstein-Barr virus infection was made. The patient recovered in
Zinc is an essential trace element for the human organism. It acts like cofactor for the metalloenzymes involved in many cellular processes. Its anti-inflammatory activity, which is the basis of therapeutic use, other than acrodermatitis enteropathica, is not well known: production of cytokines,
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.
Eating disorders are significant causes of morbidity and mortality in adolescent females and young women. They are associated with severe medical and psychological consequences, including death, osteoporosis, growth delay and developmental delay. Dermatologic symptoms are almost always detectable in