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Research Article Open access CC BY 4.0

An Extremely Rare Syndromic Form of Intellectual Disability: Temtamy Syndrome; About a Clinical Case

M. Akhrif, R. Abilkassem, A. Elyajouri, H. Ennouali, N. Amsiguine, A. Agadr

Asian Journal of Pediatric Research · pp. 8–13 · Published 21 Oct 2020

10.9734/ajpr/2020/v4i430154

Abstract

Temtamy syndrome is a congenital syndrome. It was first described by Temtamy et al. in 1991. Characterized by mental retardation, ocular coloboma, seizures, variable craniofacial dysmorphism, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. The extreme clinical and genetic heterogeneity of these phenotypes posed a major diagnostic challenge until the advent of genomic tests that scan a large number of genes with little bias by the clinical phenotype. Materials and Methods:  We reporting the case of a male child aged followed since the age of 3 months for epileptic seizure with corpus callosum agenesis, and clinical examination found craniofacial dysmorphia, mental retardation, strong myopia, an irian coloboma, chorioretinal atrophy. The aim of this study is to highlighting the specific features of temtamy syndrome and show the points of divergence with other similar syndromes.

Temtamy syndrome agenesis of the corpus callosum optic coloboma.

References (4)

  1. 1 New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia [DOI]
  2. 2 Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures [DOI]
  3. 3 Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities [DOI]
  4. 4 Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? [DOI]

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