Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Table 1 Initial evaluation

Complete blood count

Hemoglobin 11.5 g/dL (normal, 10.5-13.5)

WBC 7420/μL (normal, 5.5-15.5)

ANC 1460/μL

Otherwise unremarkable

Complete metabolic panel

Total protein 6.6 g/dL (normal, 6-8.4)

Albumin 4.1 g/dL (normal, 3.5-5)

Alk phos 369 U/L (normal, 80-340)

Otherwise unremarkable

Lipase 8 U/L (normal, 12-70)

Amylase 49 U/L (normal, 0-137)

PT 11.6 s

Vitamin A and D levels were normal

Vitamin E 0.1 mg/dL (normal, 0.5-2)

Celiac antibody testing negative

Serum trypsinogen < 1.2 ng/mL (normal, 10-57)

TSH and free T4 were normal

Stool ova and parasites negative

Seventy-two fecal fat

Fecal fat quant 10.6 g/24 h (normal, < 7)

Coefficient of fat absorption 83%

Stool chymotrypsin < 3 U/10 g (normal, > 9)

Sweat test: 45 mmol/L (normal, 8-45); CFTR gene mutation analysis: No known deleterious mutations; Shwachman-Diamond gene analysis: Negative.