Case Presentation: A 10 year old boy presented to an outside Emergency department with increased seizure activity. The boy was a recent immigrant from Guatemala.  Additional history revealed that the boy was born in the United States and received regular medical care until the age of 4. He was up to date on his vaccines and developmentally appropriate for his age when his mother decided to move back to rural Guatemala to be with family.  Around this time, his mother noticed that he had started to have some difficulty walking. She described that he would frequently trip and fall. In Guatemala he developed difficulty which speech. Over the next 6 years he slowly progressed to not being able to walk, talk, or swallow. When his first seizure occurred at age 8, his Mother sought medical care outside of her rural town in Guatemala at a larger medical facility in Mexico. There, he was started on Keppra 500 mg, but no clear diagnosis was made. The mother left Guatemala just days prior to presenting to a Delaware ER to seek a cure for her son. She, in fact, carried him across the border because he could not walk.  On exam the boy was severely malnourished. He was non-verbal and non-ambulatory. He has purulent clear secretions from his oropharynx causing him to frequently cough. Neurologically, he was able to track past midline, he had increased DTRs with hypotonia. His exam was notable choreiform movements of his extremities, especially in his hands bilaterally.  

Discussion: In summary, a 10 year old immigrant from rural Guatemala presented with worsening seizures, developmental regression since the age of three and severe malnutrition. Leading the differential diagnosis for his constellation of symptoms was a genetic, neurodegenerative disorder, specifically a leukodystrophy or glycogen storage disease. The differential, however, was broad and included traumatic causes, infectious causes such as TB or parasitic infection, and effects of toxic metabolites such as heavy metals.  Initial laboratory workup for infectious and metabolic causes yielded no abnormalities. The genetic workup was initiated with an ophthalmologic exam which was unexpectedly normal.   While awaiting the result of a chromosomal microarray and lysosomal disease testing, an MRI was obtained with the expectation that findings would yield brain changes commonly found in leukodystrophy. However, MRI results showed severe atrophy of the supratentorial brain parenchyma with relative sparing of the brainstem and cerebellum and mild periventricular/deep white matter signal abnormality thought to represent changes of severe protein energy malnutrition (PEM). MR spectroscopy was normal. With this new question of Protein Energy Malnutrition, GI was consulted and recommended further testing for malabsorption, vitamin deficiencies which ultimately were normal. The patient was started on formula via NG tube given swallowing dysfunction. For several weeks he received goal feeds with little improvement in his weight. He received physical therapy and occupational therapy.  Malabsorption workup was also negative. Ultimately, the genetic panel resulted with Juvenile Variant Tay-Sachs disease. 

Conclusions:  This case illustrates a case of a rare genetic disorder presenting in an unusual way.  First,  the diagnosis was complicated by the results of the MRI– a test which, in pediatrics, usually leads to a diagnosis. Finally, the diagnosis of Juvenile Variant Tay-Sachs carries a prognosis which this 10 year old had already outlived.