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MEHMO syndrome: complexity of verifying the diagnosis
https://doi.org/10.21508/1027-4065-2022-67-5-220-224
Abstract
MEHMO syndrome (OMIM: 300148; ORPHA: 85282) is a disease appears by mental retardation, epilepsy seizures, hypogonadism, microcephaly, and obesity. Pathology is associated with mutations in the EIF2S3 gene located on the X chromosome and leads usually to serious disability of patients. The article presents a clinical observation of the case of the syndrome in two male cousins with microcephaly, manifested by a complex of endocrinopathies (hyperinsulinemic hypoglycemia, multiple adenohypophysis hormone deficiency) and accompanied by severe neurological abnormalities (epilepsy, spastic tetraparesis, optic nerve atrophy). The complexity of the diagnostic due to the rarity of this syndrome, is described.
About the Authors
M. R. Shaydullina
Republican Сhildren's Clinical Hospital;
Kazan State Medical University
Russian Federation
Russian Federation
Kazan
O. A. Karpova
Republican Сhildren's Clinical Hospital
Russian Federation
Russian Federation
Kazan
A. R. Shakirova
Republican Сhildren's Clinical Hospital
Russian Federation
Russian Federation
Kazan
N. A. Demina
Bochkov Research Center of Medical Genetics
Russian Federation
Russian Federation
Moscow
References
1. The portal for rare diseases and orphan drugs. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85282/ Ссылка активная на 28.08.2022.
2. Maghnie M., Barbetti F. MEHMO syndrome and the link between the brain, pituitary and pancreas. Lancet 2019; 42: 26–27. DOI: 10.1016/j.ebiom.2019.03.086
3. Sengers R.C., Hamel B.C., Otten B.J., van Gils J.F., de Pagter A.G. Congenital hydrocephalus, oligophrenia, dwarfism, centripetal obesity and hypogonadism; an X-linked recessive hereditary illness? Tijdschr Kindergeneeskd 1985; 53(1): 31–34
4. Delozier-Blanchet C.D., Haenggeli C.A., Engel E. Microencephalic nanism, severe retardation, hypertonia, obesity, and hypogonadism in two brothers: a new syndrome? J Genet Hum 1989; 37(4–5): 353–365
5. Steinmuller R., Steinberger D., Muller U. MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Eur J Hum Genet 1998; 6: 201–206. DOI: 10.1038/sj.ejhg.5200180
6. Moortgat S., Désir J., Benoit V., Boulanger S., Pendeville H., Nassogne M-S. et al. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. Am J Med Genet A 2016; 170(11): 2927–2933. DOI: 10.1002/ajmg.a.37792
7. Skopkova M., Hennig F., Shin B.-S., Turner C.E., Stanikova D., Brennerova K. et al. EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO. Hum Mutat 2017; 38: 409–425. DOI: 10.1002/humu.23170
8. Young-Baird S.K., Shin B-S., Dever T.E. MEHMO syndrome mutation EIF2S3–I259M impairs initiator Met-tRNAi Met binding to eukaryotic translation initiation factor eIF2. Nucleic Acids Res 2019; 47(2): 855–867. DOI: 10.1093/nar/gky1213
9. Gregory L.C., Ferreira C.B., Young-Baird S.K., Williams H.J., Harakalova M., van Haaften G. et al. Impaired EIF2S3 function associated with a novel phenotype of X linked hypopituitarism with glucose dysregulation. EBioMed 2019; 42: 470– 480. DOI: 10.1016/j.ebiom.2019.03.013
10. Stanik J., Skopkova M., Stanikova D., Brennerova K., Barak L., Ticha L. et al. Neonatalhy-poglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome. Physiol Res 2018; 67: 331–337. DOI: 10.33549/physiolres.933689
11. Ivanova N., Serzhanova V., Demina N., Guseva D., Scoblov M. mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome. Eur J Med Genet 2022; 65(2): 104421. DOI: 10.1016/j.ejmg.2022.104421
12. Gubaeva D., Melikyan M. Hyperinsulinaemic hypoglycaemia as a MEHMO syndrome component: a case report. ESPE Abstracts 2021; 94: P2–231
Review
For citations:
Shaydullina M.R., Karpova O.A., Shakirova A.R., Demina N.A. MEHMO syndrome: complexity of verifying the diagnosis. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(5):220-224. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-5-220-224
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