Congenital Hypothyroidism in a Rwandan Infant: A Case Report
Congenital hypothyroidism (CH) is a preventable cause of severe intellectual disability if detected and treated within the first weeks of life. In Rwanda, the absence of a national newborn screening program means that most cases are diagnosed late, after irreversible neurodevelopmental damage has occurred . This case report describes a 5-month-old Rwandan female infant who presented with classic features of untreated CH, including hypotonia, macroglossia, constipation, and developmental delay. The report highlights the critical need for implementation of newborn screening for CH in Rwanda to prevent lifelong disability.
History & Examination
A 5-month-old female infant was brought to the pediatric endocrinology clinic at a tertiary referral hospital in Kigali, Rwanda, by her mother with complaints of poor feeding, constipation, and delayed developmental milestones.
The infant was born at term via spontaneous vaginal delivery at a district hospital. The mother reported that the pregnancy was uncomplicated and there was no history of maternal thyroid disease or iodine deficiency. The infant passed meconium within the first 24 hours of life but subsequently developed persistent constipation requiring frequent laxative use. The mother noted that the infant was "very quiet" compared to…
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