Abstract Ref Number = APCP840
MISDIAGNOSE OF CONGENITAL HYPOTHYROIDISM AS HIRSCHSPRUNG DISEASE
Herlina Yusuf,Ratna Dewi Artati,Setia Budi Salekede,Kwari Januar Satriono
Departement of Pediatric Health, Faculty of Medicine, Hasanuddin University DrWahidin Sudirohusodo Hospital Makassar Department Of Pediatric Health, Faculty of Medicine, Hasanuddin University DrWahidin Sudirohusodo Hospital Makassar
Background : Congenital hypothyroidism is the most common endocrine disorder affecting the newborn, incidence 1 : 3000-4000. Hirschsprung disease, the colonization defect of neural crest cell through the colon, is one of the reason for functional obstruction in neonates. Hypothyroidism also presenting clinical manifestasion as pseudoobstruction. Low thyroid hormone levels affect gastrointestinal motility and increase intestinal transtit time. Congenital hypothyroidism manifest 10% as intestinal obstruction.
Case Presentation Summary : A case of congenital hypothyroidism with hirschsprung disease in a girl aged 2 years and 10 months. Diagnosis is based on history taking: constipation since the age of 2 month, abdominal distention since the age of 1 year and 7 months and underwent colostomy without initial biopsy. She was not able to talk fluently, babbling toward any voice, was not able to stand up or sit without help. The child looks more passive. Physical examination showed puffy face, hypertelorism, macroglossia and post colostomy stoma. The child height is below 3rd percentile. Laboratory findings : Hb 7,9 g/dl, WBC 8.700 /mm3, MCV 87 fl, MCH 28 pg, Platelet 297.000/mm3, Ret 1.54%, Ferritine 251,95 ng/ml, FT4 0,51 ng/dl, TSHs > 60 mlU/ml. Bone age appropriate to newborn. Thyroid hormone therapy was initiated, Levothyroxine at a dose of 50 mcq once daily.
Learning Points/Discussion : • Congenital hypothyroidism and hirschsprung disease can presenting same clinical manifestasion as intestinal obstruction • Congenital hypothyroidism must be strongly suspected as a possible differential diagnose in apparent intestinal obstruction in neonates • Early diagnostic and treatment can help growth and neurodevelopmental
Keywords: Congenital hypothyroidism Hirschsprung disease Intestinal obstruction Levothyroxine