Phosphomannomutase 2-congenital disorder of glycosylation presenting with very early onset inflammatory bowel disease

Excerpt

A 13-month-old girl was referred to pediatric gastroenterology due to intractable diarrhea, vomiting, feeding difficulties and failure to thrive. She had 10-12 episodes of mucousy diarrhea per day with no blood. After the introduction of complementary foods into her diet, she began to vomit four to five times a day. She had been hospitalized 10 times due to unexplained fever since the age of two months. Her parents were first-degree cousins. On physical examination, she had facial dysmorphism with a flat nasal bridge, a prominent forehead, anteverted nares, almond-shaped eyes, a thin upper lip and retro-micrognathia. Her weight and height were below − 2 standard deviation score (SDS). She also had oral moniliasis, inverted nipples, hepatomegaly, hypotonicity, microcephaly and perianal ulceration. The laboratory tests revealed the following: WBC count, 13.5 × 10³/μL; Hb, 8.5 g/dL; albumin, 2.42 g/dL; and total protein, 4.3 g/dL. Her C-reactive protein level was high (52.1 mg/L) and the stool culture and the stool sample for parasites, amebiasis and Clostridium difficile were all negative. The fecal calprotectin level was very high (> 300,000 μg/g). Immunological evaluation revealed hypogammaglobulinemia (IgG 394 mg/dL, IgA 50 mg/dL, IgM 33.5 mg/dL) and reduced CD4⁺T cell ratio (21.1%, 2185/mm³). The expression levels of lipopolysaccharide-responsive beige-like anchor protein (LRBA), cytotoxic T lymphocyte antigen 4 (CTLA4), dedicator of cytokinesis 8 (DOCK8) and forkhead box p3 (FOXP3) were normal. …