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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
› Institutsangaben Funding This work was funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
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Publikationsverlauf

02. September 2019

07. November 2019

Publikationsdatum:
06. Januar 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.


 

  • References

  • 1 Kenny FM, Linarelli L. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am J Dis Child 1966; 111 (02) 201-207
    CrossrefPubMedSuche in Google Scholar
  • 2 Caffey J. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs—mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med 1967; 100 (01) 1-11
    CrossrefPubMedSuche in Google Scholar
  • 3 Isojima T, Doi K, Mitsui J. , et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. J Bone Miner Res 2014; 29 (04) 992-998
    CrossrefPubMedSuche in Google Scholar
  • 4 El Jabbour T, Aboursheid T, Keifo MB, Maksoud I, Alasmar D. Kenny-Caffey syndrome type 1. Avicenna J Med 2014; 4 (03) 74-76
    Thieme ConnectPubMedSuche in Google Scholar
  • 5 Nikkel SM, Ahmed A, Smith A, Marcadier J, Bulman DE, Boycott KM. Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His. Clin Genet 2014; 86 (04) 394-395
    CrossrefPubMedSuche in Google Scholar
  • 6 Moussaid Y, Griffiths D, Richard B. , et al. Oral manifestations of patients with Kenny-Caffey Syndrome. Eur J Med Genet 2012; 55 (8-9): 441-445
    CrossrefPubMedSuche in Google Scholar
  • 7 Unger S, Górna MW, Le Béchec A. , et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet 2013; 92 (06) 990-995
    CrossrefPubMedSuche in Google Scholar
  • 8 Majewski F, Rosendahl W, Ranke M, Nolte K. The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction. Eur J Pediatr 1981; 136 (01) 21-30
    CrossrefPubMedSuche in Google Scholar
  • 9 Lee WK, Vargas A, Barnes J, Root AW. The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. Am J Med Genet 1983; 14 (04) 773-782
    CrossrefPubMedSuche in Google Scholar
  • 10 Larsen JL, Kivlin J, Odell WD. Unusual cause of short stature. Am J Med 1985; 78 (6 Pt 1): 1025-1032
    CrossrefPubMedSuche in Google Scholar
  • 11 Fanconi S, Fischer JA, Wieland P. , et al. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr 1986; 109 (03) 469-475
    CrossrefPubMedSuche in Google Scholar
  • 12 Bergada I, Schiffrin A, Abu Srair H. , et al. Kenny syndrome: description of additional abnormalities and molecular studies. Hum Genet 1988; 80 (01) 39-42
    CrossrefPubMedSuche in Google Scholar
  • 13 Fine DA, Rozenblatt-Rosen O, Padi M. , et al. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor. PLoS Pathog 2012; 8 (10) e1002949
    CrossrefPubMedSuche in Google Scholar
  • 14 Abraham MB, Li D, Tang D. , et al. Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene. Int J Pediatr Endocrinol 2017; 2017: 1
    PubMedSuche in Google Scholar
  • 15 Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS 2007; 11 (03) 291-293
    CrossrefPubMedSuche in Google Scholar
  • 16 Sabry MA, Zaki M, Abul Hassan SJ. , et al. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet 1998; 35 (01) 31-36
    CrossrefPubMedSuche in Google Scholar
  • 17 Franceschini P, Testa A, Bogetti G. , et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet 1992; 42 (01) 112-116
    CrossrefPubMedSuche in Google Scholar
  • 18 Frech RS, McAlister WH. Medullary stenosis of the tubular bones associated with hypocalcemic convulsions and short stature. Radiology 1968; 91: 457-461
    CrossrefPubMedSuche in Google Scholar
  • 19 Enriquez EJ, Toledo F, Bustamante-Cruz M, Cruz GM. Congenital medullary tubular stenosis. A case of Caffey-Kenny syndrome. Acta Orthop Scand 1988; 59 (03) 326-327
    CrossrefPubMedSuche in Google Scholar
  • 20 Abdel-Al YK, Auger LT, el-Gharbawy F. Kenny-Caffey syndrome. Case report and literature review. Clin Pediatr (Phila) 1989; 28 (04) 175-179
    CrossrefPubMedSuche in Google Scholar
  • 21 Boynton JR, Pheasant TR, Johnson BL, Levin DB, Streeten BW. Ocular findings in Kenny's syndrome. Arch Ophthalmol 1979; 97 (05) 896-900
    CrossrefPubMedSuche in Google Scholar
  • 22 Timoney P, Darcy F, McCreery K, Reardon W, Brosnahan D. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS 2007; 11 (03) 291-293
    CrossrefPubMedSuche in Google Scholar
  • 23 Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Gracile bone dysplasia. Am J Med Genet 1998; 75 (01) 95-100
    CrossrefPubMedSuche in Google Scholar
  • 24 Eom TH, Kim YH, Kim JM. Recurrent seizures, mental retardation and extensive brain calcinosis related to delayed diagnosis of hypoparathyroidism in an adolescent boy. J Clin Neurosci 2015; 22 (05) 894-896
    CrossrefPubMedSuche in Google Scholar