Case Presentation: An 8-year-old female with a history of Guillain-Barre syndrome (GBS) presented with chronic weight loss and constipation for seven months. Exam revealed a small for age, developmentally delayed female with aphasia, inability to ambulate, and a distended but non-tender abdomen. CBC revealed normocytic anemia (Hgb 11.1) and iron deficiency. Additional laboratory testing showed normal CMP, Mg, Phos, CRP, ESR, TSH, free T4, B12, folate, and fecal occult blood. A RUQ ultrasound was normal, and an abdominal x-ray showed a non-obstructive gas pattern. Her presentation was initially attributed to constipation and inadequate caloric intake, and she underwent g-tube placement with subsequent weight gain and nutritional improvement.Per mom, patient was meeting all developmental milestones until age 2. At that time, she developed an acute febrile illness and weakness followed by the inability to walk or talk, and the diagnosis of GBS was made. Her clinical status stabilized, but since that time she has been unable to ambulate, speak, feed herself, or grip objects. She moved to the United States at age 4, however her family faced significant barriers to healthcare continuity and diagnostic follow-up.Further inquiry into her history and clinical course prompted concern for other underlying disorders, as the persistent severe neurological deficits and developmental regression were inconsistent with GBS’s usual self-limited course. Additional metabolic and neurologic evaluations, including CPK, ammonia, lactic acid, plasma amino acids, urine organic acids, ophthalmology exam, and MRI brain were normal. Genetic testing revealed a mutation in the MECP2 gene, confirming the diagnosis of Rett syndrome.
Discussion: Rett syndrome is caused by mutations in MECP2 on the X chromosome and occurs in 1 of 10,000 female births. The severity and disease course vary. Generally, patients have failure to meet milestones (6 to 18 months), rapid regression of skills (1 to 4 years), plateau (4 years to adulthood), and late motor deterioration. The average age of diagnosis is 2.7 years for classic and 3.8 years for atypical Rett Syndrome1. This patient was nearly 9 years old at the time of diagnosis, significantly older than the average. Patients and families may have limited access to healthcare services for many reasons. This patient’s family faced many social determinants of health including language barriers, lack of insurance, and poor health literacy, which contributed to not having a primary care provider. As a result, a hospitalist was tasked with evaluating and diagnosing a condition that would typically be addressed much earlier in life in the outpatient setting.
Conclusions: This case highlights the importance of considering diagnoses which would normally be found at a younger age, particularly when seeing patients who have barriers to accessing healthcare. These patients, like ours, may have fragmented care in emergency rooms and hospitals. In those settings, acute concerns are addressed but follow up of chronic conditions and health maintenance screening likely does not occur. When care is fragmented, it becomes more important to re-address prior diagnoses that do not fit the clinical picture. In this case, we were able to step beyond the immediate inpatient concerns and determine that Rett syndrome was the most likely reason for the patient’s underlying developmental delay and regressed milestones.