Case Report
Copyright ©2011 Baishideng Publishing Group Co.
World J Gastroenterol. Oct 7, 2011; 17(37): 4247-4250
Published online Oct 7, 2011. doi: 10.3748/wjg.v17.i37.4247
Table 1 Clinical features of Johanson-Blizzard syndrome
Exocrine pancreatic insufficiency[1,3-5]
Hypoplasia/aplasia of alae nasi[1,4,6-8]
Scalp defect /aplasia cutis[1,6,8]
Sensory neural hearing loss[1,3,8,9]
Bilateral cystic dilation of cochlea, low set ears, and temporal bone defect[10]
Growth retardation, short stature[1,11]
Dental anomalies: oligodontia and absence of permanent teeth[1,6,7,11]
Anorectal anomalies: imperforate anus[4,11,12]
Hypotonia, microcephaly, and mental retardation sometimes normal intelligence[3,7,11]
lacrimal duct anomalies, coloboma of the lids, superior puncta absence, lacrimal cutaneous fistula, and congenital cataract[13]
Abnormal frontal hair pattern (upsweep)[7]
Vesicoureteric reflux, hypospadia, and duplex of uterine and vagina[8]
Congenital heart diseases such as myxomatous mitral valve, PDA, VSD, ASD, dextrocardia, complex congenital heart disease, and cardiomyopathy[13,14]
Cholestatic liver disease (one case)[15]
Café au lait spots[16]
Hypothyroidism[1]
Growth hormone deficiency[5]
Hypopituitarism[17]
Impaired glucagon secretion response to insulin induced hypoglycemia[18]
Diabetes mellitus[19,20]
Table 2 Laboratory results of the patient at 5 mo and at 9 mo of age
At presentation (5 mo)At 9 moNormal range
Hemoglobin4 g/dL11.7g/dL10.5-12
Post transfusion: 12 g/dL,
Retics count7%1.20%0.2-2%
MCV858570-86 fl
Leukocyte count560016 0006000-17 500/mm3
Platelets192 000, 79 000, 100 000390 000150 000-400 000/mm
RBC blood morphologyAnisocytosis and normochromiaAnisocytosis and normochromia
Total bilirubin3.530-24 mmol/L
Direct bilirubin1.51.130-5.1 mmol/L
ALT44390-41 U/L
AST45550-35 U/L
ALP235410180-1200 U/L
Total protien355660-87 g/L
Albumin17.338.834-48 g/dL
Urea11.73.3-6.4 mmol/L
Creatinine131962-106 mmol/L
Pancreatic amylase2.961513-53 U/L
Pancreatic lipase102013-60 U/L
FT49.2811.5513.9-26.1 pmol/L
TSH17.86.431.4-8.8 ulU/mL
Serum iron88.3915760-170 mg L/dL
Total iron binding capacity120106100-400 mg/dL
Serum ferritin1260 (repeated BT)7-140 ng/mL
Serum folate level2015-55 ng/mL
Serum vitamin B12 level252197-866 pg/mL
Insulin0.22.6-24.9 Uu/mL
Bone marrow results (normal)Erythropoiesis, granulopoiesis, and lymphopoiesis are normal cellularity and maturity and megakaryocytes are presentThe same result
Hemoglobin electrophoresisNormal