5 полученные результаты
Infants with athyrotic hypothyroidism usually manifest signs and symptoms of hypothyroidism prior to or during the period in the newborn nursery. These features are variable and include: prolonged gestation with large size at birth, large posterior fontanel, respiratory distress, hypothermia,
An infant with congenital hypothyroidism (CH) is described who in the course of thyroxin replacement therapy developed cow's milk protein intolerance (CMPI) and subsequently coeliac disease (CD). The presence of these two pathologies interfered with the intestinal absorption of L-thyroxin (L-T4) and
A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. Her findings were umbilical hernia, xerosis, dry hair, and short stature. After thyroxine treatment, she also had headache, vomiting, and palpitation, lack of
We report a female newborn baby who presented with vomiting and abdominal distension on day 21 of life. Examination revealed facial puffiness, open posterior fontanelles, dry skin, cold peripheries and prominent abdominal veins with visible peristalsis. Barium enema revealed dilated proximal colon,
We describe three patients with congenital disorder of glycosylation (CDG) type Ia, all of whom had persistent hyperinsulinaemic hypoglycaemia responding to diazoxide therapy as a common feature. The first patient, an infant girl, presented with recurrent vomiting, failure to thrive, liver