ESPE2023 Poster Category 2 Late Breaking (77 abstracts)
Case Report: Untreated Congenital Hypothyroidism associated with hypertrophic pyloric stenosis
Nihad Selim 1 , Foued Abdelaziz 2 , Lotfi Boustil 1 , Yahia Chebini 1 & Nadira Bouchair 1
1Saint Therese clinic, Pediatrics department, University hospital of Annaba, Annaba, Algeria. 2Medical Practice, Annaba, Algeria
Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns, in Algeria newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. We report the case of a girl of 12 years old reffered for a failure to thrive, speech deficit and persistant vomiting, On clinical examination her height was –3 SDs with a very delayed bone age and a BMI of 35kg/m2 associated with severe musculoskeletal deformities and cognitive deficits. TSH > 100 mIU/L and free T4 very low with athyreosis on thyroid Ultrasound, Upper Abdominal ultrasonography confirmed hypertrophic pyloric stenosis (elevated pyloric muscle thickness). treatment with levothyroxine was started with improvement in BMI (weight loss). Vomiting and ultrasonography signs of hypertrophic pyloric stenosis disapeared after 3 months of treatment. Cognitive and speech deficits is persistant after 18 months of treatment. In conclusion untreated CH presents with a spectrum of clinical signs, persistant vomiting may indicate an association with hypertrophic pyloric stenosis with good improvment after levothyroxine treatment. We equally have to consider the severity of growth stunting and severe mental retardation in CH when diagnosis is missed or treatment delayed.
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