Johanson–Blizzard’s syndrome (JBS) is a rare cause of chronic diarrhoea in infancy. It is an autosomal recessive disease characterized by exocrine pancreatic insufficiency, multiple characteristic dysmorphic features, multisystem involvement and developmental delay. JBS is a very rare disease with roughly about 70 cases reported in the literature. We are reporting this case of a male infant who presented with chronic diarrhoea and had typical facial features along with café-au-lait spots, and the whole exome sequencing revealed a novel homozygous UBR1 mutation.
LerchMM, ZenkerM, TuriS, MayerleJ.Developmental and metabolic disorders of the pancreas. Endocrinol Metab Clin North Am. 2006;35(2):219–241, vii.
2.
ZenkerM, MayerleJ, ReisA, LerchMM.Genetic basis and pancreatic biology of Johanson–Blizzard syndrome. Endocrinol Metab Clin North Am. 2006;35(2):243–253, vii-viii.
3.
JohansonA, BlizzardR.A syndrome of congenital aplasia of the alae nasi, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. J. Pediatr. 1971;79(6):982–987.
4.
OkajimaK, SuzukiT.Steatorrhea versus normal stool in neonatal and early infantile period: implications for biliary atresia. JPGN Rep. 2020;1(2):e020.
