A 5-year-old boy is brought to the clinic with complaint of violent outbursts and temper tantrums for 1 year. He was born full term; birth weight was 2.43 kg (5.35 lbs.), and he had feeding problems. He had been fed with a nasogastric tube initially and then with a cup and spoon. He is not performing well in school and struggles to study. Physical examination shows a height of 95 cm (37.4 inches), weight of 38 kg (83.7 lbs.), almond-shaped eyes, and thin upper lip. He does not reply to the questions appropriately and is constantly arguing with the parents to go home. Of note, both hands are free of creases. Which of the following is the most likely diagnosis in this child?
Prader Willi syndrome is correct as children usually present in infancy with feeding problems, hypotonia, low birth weight, and later gain a lot of weight. This child is obese, with typical features (almond-shaped eyes, thin upper lip, temper issues) suggestive of Prader Willi syndrome. They have mild to moderate mental retardation, hypotonia, violent outbursts, and temper issues. It is a genetic disorder caused by a defect on the long arm of chromosome 15.
Hypothyroidism is incorrect as it presents with developmental delay, constipation, weight gain, dry skin, and poor academic performance. This child has symptoms and signs suggestive of Prader Willi syndrome and will need management for it. Children with Prader Willi syndrome have short stature, hypogonadism, and have deficiency of growth hormone, adrenal insufficiency, and hypothyroidism.
Down syndrome is incorrect as it is characterized by typical facies small chin, flat nasal bridge, slanted eyes, protruding tongue, single palmer crease, and developmental delay, which are absent in this patient. It is a genetic disorder also known as trisomy 21, and children have intellectual and physical delays. Many Down syndrome patients are noted to have a single palmer crease in hands.
Russell Silver syndrome is characterized by intrauterine growth retardation, low birth weight, feeding difficulties, poor growth and weight gain after birth, clinodactyly, prominent forehead, small jaw, narrow chin, triangular face, and developmental delay. This child has signs and symptoms of Prader Willi syndrome and will need confirmation with genetic analysis.
Angelman syndrome is incorrect as it is characterized by developmental delay but the child?s personality is excitable and happy, which is not the case with this child. Children with angelman syndrome also have intellectual disabilities, seizures and problem with speech. This child has symptoms and signs suggestive of Prader Willi syndrome and will need confirmatory diagnosis by genetic analysis.