SHM Converge Scientific Abstract ePoster Gallery-A Rett-Rospective Diagnosis: Reevaluating Neurologic Symptoms

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This case describes an 8-year-old girl with chronic constipation, severe malnutrition, weakness, loss of speech, and inability to ambulate. She had previously been diagnosed with Guillain-Barré syndrome, but her neurologic findings did not fit that diagnosis: she was nonverbal, had decreased tone, limited movement, inability to sit independently, and brisk reflexes. Her workup showed iron deficiency but normal CMP, magnesium, phosphorus, thyroid studies, and B12/folate.<br /><br />Because of the mismatch between symptoms and the prior diagnosis, Neurology and Genetics were consulted. They considered Rett syndrome, cerebral palsy, and heavy metal toxicity. Nutrition and speech-language pathology were involved for poor intake and malnutrition, and a modified barium swallow suggested aerophagia. Due to persistent oral intolerance, a gastrostomy tube was placed. Social work and case management helped arrange home feeding supplies, insurance, follow-up care, and medications.<br /><br />A few months later, genetic testing confirmed an MECP2 mutation, establishing the diagnosis of Rett syndrome. The authors note that Rett syndrome is an X-linked neurodevelopmental disorder that typically presents with early developmental delay followed by regression between 1 and 4 years of age. Diagnosis is usually made around age 2.7 years, but this patient was not diagnosed until age 9, likely because of fragmented care and lack of consistent primary care access.<br /><br />The case emphasizes the danger of anchoring on an old diagnosis, especially when symptoms do not match. It also highlights how social determinants of health—language barriers, lack of insurance, and poor health literacy—can delay diagnosis and appropriate treatment.

Asset Subtitle

Akriti Jalla

Meta Tag

Author List Akriti Jalla, Ashley Perry, Melinda Murphy

Category Clinical Vignettes

Concept Rett syndrome

Concept Developmental regression

Concept Speech loss

Concept Motor skill loss

Concept MECP2 mutation

Distinguished Non-Finalist

Presenter Organization University of South Florida

Presenting Author Akriti Jalla

Track Pediatric

Keywords

Rett syndrome

MECP2 mutation

neurodevelopmental disorder

developmental regression

chronic constipation

severe malnutrition

gastrostomy tube

anchoring bias

social determinants of health

genetic testing

Rett syndrome

Developmental regression

Speech loss

Motor skill loss

MECP2 mutation