A 15-month-old previously healthy girl child presented to the clinic for developmental regression and hypotonia. One month prior to presentation, she had 1 day of vomiting, which resolved, but subsequently developed worsening fatigue and eventually regression in developmental milestones. Although she talked and walked before, she stopped sitting and walking independently, requiring caregiver assistance. She also stopped eating on her own. On review of systems, she did not have any fever, abdominal pain, bloating, diarrhea, or constipation. She also did not have any preceding injury, toxic exposures, recent travel, or pertinent medical or family history. She ate a balanced diet with no restrictions.On physical examination, she was thin and pale. She was slumped over her caregiver's lap with her mouth open, suggesting poor overall tone. She made minimal sounds and movements. While able to follow a few commands, she was reluctant to engage with the examiner. Notably, she had intact deep tendon reflexes. Review of the growth chart revealed poor growth over the previous 4 months (Figure 1). Given her appearance and neurodevelopmental regression, she was urgently referred to the hospital for expedited workup.A neurologic evaluation was prioritized given the acute regression. Magnetic resonance imaging of the brain and spine was normal. Cerebrospinal fluid studies were negative for any infectious or inflammatory etiologies. Other infectious blood and stool studies were negative. Labs were notable for an elevated stool calprotectin (374 µg/g, ref.<286 µg/g), elevated stool alpha-1antitrypsin (1.13 mg/g, ref. <0.5 mg/g), and low serum albumin (1.8 g/dL, ref. >4.0 g/dL), suggesting proteinlosing enteropathy. Other tests were significant for deficiencies in copper, zinc, vitamin B6, vitamin B9, vitamin E, and vitamin D; but normal levels of vitamin B12 and other essential minerals, including sodium, potassium, calcium, and phosphorous. Thyroid-stimulating hormone was normal. Urine organic acids, plasma amino acids, lactate, pyruvate, and ammonia as well as trio exome sequencing were performed to rule out metabolic and genetic causes, such as leukoencephalopathies and encephalopathies, from inborn errors of metabolism that would result in hyperammonemia and lactic acidemia-all studies were negative. Finally, celiac disease antibody testing, esophagogastroduodenoscopy, and colonoscopy were pursued.
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