A 16-months old girl presented to the University children hospital with acute hypotonia and suspected Guillain-Barre syndrome.
Two months before admission, she developed vomiting and watery diarrhea, which lasted for few days and had been treated with probiotics. Two weeks afterwards, acute symmetrical weakness of upper and lower limbs was occurred, so the patient was admitted to regional hospital. Her past medical history was irrelevant. She had normal growth and normal milestones development. According to parents, she was able to walk before her first birthday. There was no history of honey and canned food use and she had negative family history of a similar conditions. Her physical examination showed a floppy, irritable child with body weight of 9900 g (25-50th percentile). Both upper and lower limbs were very weak with no reflexes. After her laboratory tests, abdominal ultrasound and brain CT, the diagnosis of GB was established and the treatment with IVIG was initiated. Her neurological symptoms improved slightly after five doses of IVIG. One week after, the patient was discharged to rehabilitation center, but her neurological condition deteriorated with appearance of pretibial and dorsal pedal edema. The laboratory findings showed hypoproteinemia and hypoalbuminemia, and she was sent to our hospital.
On admission, she was 16-month old girl, body stature 82cm (90th percentile), body weight 8450 g (10th percentile), BMI 13.7kg/m2. Thickness of the skin fold was not measured. She lost 15% of weight for two months. Subcutaneous fatty tissue was significantly reduced, she also had severe periorbital, pretibial and dorsal pedal and palmar edema. Her abdomen was distended without sings of hepatosplenomegaly. Neurological examination revealed severe general hypotonia of limbs with reduced reflexes, without axial weakness. Routine laboratory reveled normal CBC, hypoproteinemia, hypoalbuminemia with normal kidney and liver function. Inflammatory parameters were normal. Since there were no significant proteinuria and hypertension, nephrotic syndrome was excluded, and the child was referred to gastroenterologist and neurologist for further evaluation. The biochemistry and cytology of cerebrospinal fluid were normal, as well as MR of lumbosacral region. Because of technical difficulties in this young age, the electroneuromyography was not performed.
Since celiac disease was differential, celiac serology was done. Very high anti-endomysial (EMA) and anti-transglutaminase antibodies confirmed clinical suspicion (they were elevated more than 10 times). Genetic test showed that she is HLA DQ2. The diagnose of celiac disease was established without duodenal biopsy.
Gluten free diet was started right away, as corticosteroids due to celiac crisis. Edema disappeared after administration of albumin with furosemide. Body weight was 7600 g (<3rd percentile), BMI 11.3 kg/m2 after diuretic therapy.
Five days after inception of GFD slightly, neurological improvement appeared. Patient was followed in day hospital for next 3 weeks, and during this period she improved in her nutritional, neurological and psychological aspects. She was discharged with slightly reduced albumin level. She was able to stand, but still she was not able to walk by herself. Psychological functioning was normal.
Now, after two years on GFD she is healthy girl.