Abstract
21-months-old,female patient,screening tests for inborn errors of metabolism performed at 4 months of age showed congenital hypothyroidism and phenylketonuria.Uneventful pregnancy,parents not consaguineous,birth weight 3650 g,height 50 cm.From the beginning hypotonic,calm,sleeping most time,macroglossy,deglutition difficulties,mixedematous facies,pale,dry and cold skin.Constipation,evacuation every 3 days.Cardiac frequency 96p.m.,smooth and generalized,systolic murmur.Thyroid not palpable.Reducible umbilical hernia.Cough with frequent choking.Rhynorrhoea in the first month and bronchopneumonia in the 3rd.month,requiring intensive care, with heart stop followed by recovery and discharge after 48 hours. T-4=1,4 and 0.7mcg%;phenylalaninemia 33 and 36mg%;TSH 88 μV/ml,I-131 captation absent,tyrosinemia 1.3mg%.Treatment:Cynomel(5mcg/day)and Proloide(16mg/day)increasing gradually up to 60 mg/day (without Cynomel)as well as a diet with hypophenylalanine.The symptoms of hypothyroidism regressed rapidly.Normal weight and height development.Presently slight neuro-psycho-motor retardation(lallation,babling of names. “daddy”, “mommy”,etc;able to stand upright with support and to make 2 to 3 steps).The authors are unaware of any similar case report in the literature.The present note stresses again the importance of populational screening tests in the early detection of inborn errors of metabolism.
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Schmidt, B., Solberg, P., Diament, A. et al. 5 Phenylketonuria in patients with congenital hypothyroidism. Pediatr Res 15, 176 (1981). https://doi.org/10.1203/00006450-198102000-00025
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DOI: https://doi.org/10.1203/00006450-198102000-00025
