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- Amita Ghuman, MD*
- Allison Close, MD†
- Lynn Malec, MD, MSc‡
- *Department of Pediatrics and
- †Division of Hematology/Oncology, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA
- ‡Blood Research Institute, Blood Center of Wisconsin, Milwaukee, WI; Division of Hematology/Oncology, Departments of Medicine and Pediatrics, Medical College of Wisconsin, Milwaukee, WI
AUTHOR DISCLOSURE
Dr Ghuman’s current affiliation is Division of Oncology, Children’s Hospital of Philadelphia, Philadelphia, PA. Dr Close’s current affiliation is Division of Hematology/Oncology, Helen DeVos Children’s Hospital, Grand Rapids, MI. Dr Malec has disclosed a financial relationship with Bioverativ and is a consultant to Shire. Drs Ghuman and Close have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.
Presentation
A 15-year-old Caucasian boy with autism, global developmental delay, chronic constipation, and oral aversion presents to the emergency department with parental concerns for worsening fatigue, weakness, and gait instability. Symptoms have been slowly progressive and accompanied by weight loss over the past 6 months. Whereas he used to run and jump, he is now unable to stand independently. His long-standing feeding difficulties have been refractory to intensive feeding programs, yet he continued to feed orally (with no previous attempts at enteral/parenteral nutrition). His daily diet consisted only of 50 to 60 oz of whole milk and 25 to 30 individual servings of butterscotch pudding per day (1,680–1,880 calories per day, 0.7 mg of iron per day).
On presentation he is afebrile, with normal blood pressure and respiratory rate for age. His heart rate is 118 beats/min. Growth parameters are at the 2nd and 25th percentiles for weight and height, respectively. On physical examination the patient is well-appearing, thin with coarse facial features, and nonverbal but cooperative. Conjunctival pallor is present. Cardiovascular, respiratory, gastrointestinal, and dermatologic examination findings are normal other than mild tachycardia. On neurologic examination he has increased tone with extension in his upper and lower extremities, decreased muscle bulk, 3/4 deep tendon reflexes, and narrow-based gait with valgus deformity of the right leg, along with difficulty with dorsiflexion of his feet when walking. He …
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