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

Main Article Content

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

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.

Keywords:
Temtamy syndrome, agenesis of the corpus callosum, optic coloboma.

Article Details

How to Cite
Akhrif, M., Abilkassem, R., Elyajouri, A., Ennouali, H., Amsiguine, N., & Agadr, A. (2020). An Extremely Rare Syndromic Form of Intellectual Disability: Temtamy Syndrome; About a Clinical Case. Asian Journal of Pediatric Research, 4(4), 8-13. https://doi.org/10.9734/ajpr/2020/v4i430154
Section
Case Study

References

Alrakaf L, Al-Owain MA, Busehail M, et al. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. Am J Med Genet Part A. 2018;176A:715–721.

Akizu, et al. Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia. Am. J. Hum. Genet. 2013;92:392-400.

Temtamy et al. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clin. Dysmorph. 1996;5:231-240.

Chan AKJ, Levin AV, Teebi AS. Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome? (Letter) Clin. Dysmorph. 2000;9:223- 226.

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome. Am. J. Med. Genet. 2007;143A:1900-1905.

Zahrani F, Aldahmesh MA, Alshammari MJ, Al-Hazzaa SAF, Alkuraya FS. Mutations in C12orf57 cause a syndromic form of colobomatous microphthalmia. Am. J. Hum. Genet. 2013;92:387-391.

Salih MA, Tzschach A, Oystreck DT, Hassan HH, Al Drees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. Am. J. Med. Genet. 2013;161A:1207-1213.

Platzer K, Huning I, Obieglo C, Schwarzmayr T, Gabriel R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. 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. Am. J. Med. Genet. 2014;164A: 1976-1980.

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet Part A. 2007;143A:1900–1905.

Ben-Omran T, Alsulaiman R, Kamel H, Shaheen R, Alkuraya FS. Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy. American Journal of Medical Genetics Part A. 2015;167(10):2478–2480.