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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  ‡   *
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Tulia Cristina Kreusch  ‡   *
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Bruna Pavan Salvaro
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Wagner Fernando Perin
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Maria Angélica Tosi Ferreira
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Cristiane Kopacek
3   Department 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
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
,
Jane Iândora Heringer
4   Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil
,
Rodrigo Ligabue-Braun
5   Department of Pharmaceutical Sciences, Universidade Federal de Ciências da Saúde de Porto Alegre, Rio Grande do Sul, Brazil
,
Paulo Ricardo Gazzola Zen
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
6   Department 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
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
4   Department of Clinical Genetics, Hospital Materno Infantil Presidente Vargas, Porto Alegre, Rio Grande do Sul, Brazil
6   Department 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 
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
7   Department of Basic Health Sciences, Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
› Author Affiliations Funding This work was funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
Further Information

Publication History

02 September 2019

07 November 2019

Publication Date:
06 January 2020 (online)

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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

Ethical Approval

This study was approved by the research ethics committee of the hospital. The project to which this work is associated allows the use of patient images and data, as long as they are not identified.


* These authors contributed equally to this work.


 

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