Pre-Transplant Clinical Characteristics
The salient patients’ characteristics pre-transplant are summarized in Table 1. All our patients were diagnosed before the age of 22 years. All had gastrointestinal symptoms at the time of HSCT, which included underweight (patients 1-4) and extreme thinness (patients 5-6). All six patients had abdominal pain as well as recurrent vomiting, which occurred only rarely for patient 4. Only patient 3 had bowel obstruction, necessitating surgical intervention and partial bowel resection. Patients 2 and 3 had a gastrostomy placed for more than a year prior to HSCT to allow decompression of the dilated stomach and symptom relief. Patients 4 and 6 underwent gastrostomy insertion only one month prior to transplantation, for the same indication. Patients 1-3 were on complementary parenteral feeding for nutritional support prior to transplantation. All patients had normal liver transaminases. Pre-transplantation abdominal ultrasound performed in patients 2-6 revealed normal liver size and appearance except for patient 3 who had hepatomegaly with sonographic findings suggestive of fatty liver.
All patients had some degree of clinical signs suggestive of demyelinating polyneuropathy with motor and sensor involvement. Patients 1 and 2 underwent brain MRI before transplant, with abnormal white matter changes (Figures 1.C-E).
All patients had a thorough evaluation for infectious disease risk factors and organ function in relation to HSCT, as per standard practice.