| Autor: |
Meneses V; Division of Developmental-Behavioral Pediatrics, Department of Pediatric Developmental Disabilities, Texas Scottish Rite Hospital for Children, University of Texas Southwestern Medical Center; †Department of Neurology, Texas Scottish Rite Hospital for Children; ‡Division of Developmental-Behavioral Pediatrics, University of Texas Southwestern Medical Center; §Department of Pediatrics, Boston Medical Center/Boston University School of Medicine., Gonzalez-Castillo Z, Edgar VB, Augustyn M |
| Abstrakt: |
Case: Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia.At age 2, Zoe saw a neurologist and brain MRI revealed cerebellar atrophy. She recently saw a geneticist and genetic studies are pending. Parents report receiving "little" information regarding prognosis; through their own research, they read about individuals having similar symptoms in adulthood, with a degenerative pattern. They worry that Zoe is "still very young and we do not know what her future will be like."Despite ongoing speech and feeding challenges, the parents report difficulty finding a speech and language therapist in their area. Zoe does see an otolaryngologist for frequent otitis media and hearing loss and an ophthalmologist for vision problems. Still, she continues to fall further behind in school. Furthermore, she is intensely afraid of falling at school and has few friends, resulting in the family being at a loss regarding "what to do about school."She lives with both parents and 2 healthy older sisters. Her mother has Crohn's disease and has been unable to work. Her maternal aunt is close to Zoe and has hypothyroidism. Her father works as an insurance agent and resources have been "tight." Zoe's mother describes "making" Zoe go out to the movies, "otherwise she just stays home." Zoe usually needs assistance to walk in public, to keep from stumbling. Parents share that simply being in a public place or meeting a new physician may trigger emesis. Zoe does enjoy interacting with neighborhood children and says she wants to be "normal," wear nail polish, and date. She seeks independence, often refusing to use her wheelchair. Parents feel she requires more intensive occupational and physical therapy.On examination, she is very slender with hypertelorism and nystagmus. Holding an emesis bag, she gags intermittently, producing clear secretions. She has a notable tremor and walks slightly stooped with wide-based gait. Her few words demonstrate articulation differences and cognitive expression characteristic of a younger child. She wears light make-up and age-appropriate clothes. She asks, "When can I go home?"At the end of the visit, parents share their worry that Zoe is "so young and we do not know anything, what to expect, or what to tell her." As the family's new medical home, they ask you to weigh in on what to do next to best support her? Where do you begin? |
