case report: Occurrence of the Rare Syndrome of Johanson-Blizzard in a Child - Longitudinal Observations

The authors review the data available in the literature on a rare genetic disorder – Johanson-Blizzard syndrome – and present their clinical observations on one patient after longitudinal follow- up. Particular emphasis is on multiple malformations which are the clinical hallmark manifestations of the disorder: congenital exocrine insufficiency, and abnormalities of the maxillo facial region, hearing and sight. Homozygous or compound heterozygous mutations in the UBR1 gene typically result in Johanson-Blizzard syndrome. A molecular genetic study detected two mutations at different sites in the UBR1 gene. These have not been previously described in the syndrome, but likely result in the patient’s disorder. One of the mutations was maternally inherited. The differential diagnosis of this syndrome and multifaceted therapy, including clinical nutrition and enzyme therapy are presented. Follow-up from age 8 to 16 years of age showed a positive trend overall in the patient’s condition.