Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Desirée Deconte; Tulia Cristina Kreusch; Bruna Pavan Salvaro; Wagner Fernando Perin; Maria Angélica Tosi Ferreira; Cristiane Kopacek; Ernani Bohrer da Rosa; Jane Iândora Heringer; Rodrigo Ligabue-Braun; Paulo Ricardo Gazzola Zen; Rafael Fabiano Machado Rosa; Marilu Fiegenbaum

doi:10.1055/s-0039-3401831

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2020; 09(04): 263-269
DOI: 10.1055/s-0039-3401831

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Desirée Deconte ‡^*

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Tulia Cristina Kreusch ‡^*

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Bruna Pavan Salvaro

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Wagner Fernando Perin

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Maria Angélica Tosi Ferreira

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Cristiane Kopacek

³Department of Pediatric Endocrinology, Hospital Materno Infantil Presidente Vargas and Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Ernani Bohrer da Rosa

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Jane Iândora Heringer

⁴Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil

,

Rodrigo Ligabue-Braun

⁵Department of Pharmaceutical Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil

,

Paulo Ricardo Gazzola Zen

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

⁶Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Rafael Fabiano Machado Rosa

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

⁴Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil

⁶Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

,

Marilu Fiegenbaum

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

⁷Department of Basic Health Sciences, Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

› Author Affiliations

Abstract

Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.

Keywords

Kenny-Caffey syndrome type 2 - vision impairment - intellectual disability

Full Text

References

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