Atypical Neuropsychological profile in a patient with Johanson-Blizzard Syndrome

Johanson-Blizzard Syndrome (JBS) is an autosomal recessive hereditary disease of the group of ectodermal dysplasias. It is the result of an abnormality in the U8R1 gene. This syndrome has clinical characteristics such as aplasia or hypoplasia of the nasal wings, hypothyroidism, exogenous pancreatic insufficiency, deafness and short stature. However, there are few reports related with the neuropsychological characteristics in this syndrome, often describing intellectual disability, although in some cases a normal development also has been founded. The objective of this work was to describe the neuropsychological profile of an adolescent with JBS. Unlike what is reported in the literature, the evaluated patient presented an IQ within the normal range, whereas some weaknesses in academic skills as comprehension, spelling, written expression, number sense and mathematical reasoning were observed. Academic disadvantages also were reported by his parents. These academic deficiencies were associated with the presence of the syndrome due to no other risk factors were documented. In conclusion, this profile with minor disabilities could be consistent with what has been reported in other genetic diseases, where the severity of the disability depends on the degree of genetic abnormality.