Johanson-Blizzard syndrome

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]

Italic letters show common features. PDA: Patent ductus arteriosus; VSD: Ventricular septal defect; ASD: Atrial septal defect.

Table 2 Laboratory results of the patient at 5 mo and at 9 mo of age

	At presentation (5 mo)	At 9 mo	Normal range
Hemoglobin	4 g/dL	11.7g/dL	10.5-12
	Post transfusion: 12 g/dL,
Retics count	7%	1.20%	0.2-2%
MCV	85	85	70-86 fl
Leukocyte count	5600	16 000	6000-17 500/mm3
Platelets	192 000, 79 000, 100 000	390 000	150 000-400 000/mm
RBC blood morphology	Anisocytosis and normochromia	Anisocytosis and normochromia
Total bilirubin	3.5	3	0-24 mmol/L
Direct bilirubin	1.5	1.13	0-5.1 mmol/L
ALT	44	39	0-41 U/L
AST	45	55	0-35 U/L
ALP	235	410	180-1200 U/L
Total protien	35	56	60-87 g/L
Albumin	17.3	38.8	34-48 g/dL
Urea	1	1.7	3.3-6.4 mmol/L
Creatinine	13	19	62-106 mmol/L
Pancreatic amylase	2.96	15	13-53 U/L
Pancreatic lipase	10	20	13-60 U/L
FT4	9.28	11.55	13.9-26.1 pmol/L
TSH	17.8	6.43	1.4-8.8 ulU/mL
Serum iron	88.39	157	60-170 mg L/dL
Total iron binding capacity	120	106	100-400 mg/dL
Serum ferritin		1260 (repeated BT)	7-140 ng/mL
Serum folate level		20	15-55 ng/mL
Serum vitamin B12 level		252	197-866 pg/mL
Insulin		0.2	2.6-24.9 Uu/mL
Bone marrow results (normal)	Erythropoiesis, granulopoiesis, and lymphopoiesis are normal cellularity and maturity and megakaryocytes are present	The same result
Hemoglobin electrophoresis	Normal

MCV: Mean corpuscular volume; RBC: Red blood cell; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphatase; FT4: Free Thyroxine; TSH: Thyroid-stimulating hormone; BT: Blood transfusion.