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Old 12-19-2011
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Kids Infant with a new onset seziure

A 9-month-old infant is brought to the emergency room by her mother who states that the child experienced a seizure 2 hours ago. For the past week, the infant has been fussy and eating poorly, but she has not had any fever. The infant was born at term by spontaneous vaginal delivery without perinatal complications. Past medical history is unremarkable. Dietary history reveals that she has been breastfed since birth. However, she was introduced to applesauce and other soft, mashed fruits 1 week ago. One day after the introduction of fruit into her diet, the patient started to demonstrate poor oral intake and has continued to be picky with foods since that time. On exam, the child is afebrile but demonstrates tachycardia and tachypnea. Blood pressure is within the normal range. Both sclerae appear mildly icteric. Moderate hepatomegaly is present. The remainder of the physical exam is noncontributory. Finger-stick glucose is 32 mg/dL. Blood chemistries reveal decreased bicarbonate and elevated lactic acid levels. Liver function tests are mildly elevated. Analysis of urine reveals moderate proteinuria, positive glucose, and the presence of a non-glucose reducing sugar.
Which of the following represents the most likely diagnosis?
A. Rotor syndrome
B. Crigler-Najjar syndrome
C. Galactosemia
D. Hereditary fructose intolerance
E. Essential fructosuria
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Old 12-19-2011
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d or e,
icteric 9 month child presenting with seizure 1 or so week after introducing fruits.wow! i could summarize it in 1 line
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Old 12-19-2011
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the answer is hereditary fructose intolerance..
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Old 12-19-2011
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its D. Hereditary fructose intolerance
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Old 12-19-2011
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D. Hereditary fructose intolerance
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The correct answer is D. Hereditary Fructose Intolerance.

This child likely has hereditary fructose intolerance (HFI). HFI is an autosomal recessive disease caused by mutations in aldolase B, an enzyme involved in glycolysis as well as gluconeogenesis. Onset of signs and symptoms coincides with introduction of fructose (fruit sugar) into the diet and includes vomiting, failure to thrive, hepatomegaly, jaundice, coagulopathy, metabolic acidosis, and coma. Patients with HFI demonstrate a drop in blood sugar upon ingestion of fructose, which explains the association of symptoms such as tachycardia and possible seizures with disease. Some soy formulas also contain fructose, so if the child is bottle-fed, symptoms may manifest soon after birth. Clinically, HFI has obvious symptomology, which diferentiates it from essential fructosuria in which patients are asymptomatic. Crigler-Najjar and Rotor syndromes are hereditary inborn errors of bilirubin metabolism that are associated with elevated bilirubin levels and jaundice. Neither of these diseases explains the patient's hypoglycemia following fructose ingestion. Galactosemia is also an unlikely diagnosis given that symptoms would emerge as soon as galactose from breast milk was introduced into the diet. Essential fructosuria is a benign disorder of fructose metabolism characterized by fructokinase (ketohexokinase) deficiency. Diagnosis of HFI can be made by detection of non-glucose reducing sugars in the urine. Treatment for HFI involves dietary fructose avoidance. In HFI, patients are not expected to clinically deteriorate if an appropriate diet is followed carefully. In fact, most symptoms will regress based on dietary control alone. Given the nature of enzyme deficiency, however, it is unlikely that children with the disease will somehow outgrow the disease on their own. Genetic counseling should be of ered to the family, given the autosomal recessive pattern of inheritance and possibility that future children may be affected.
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