MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13

Abstract

A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder

“…The combination of clinical symptoms including epileptic seizures, hypogenitalism, microcephaly and obesity is identical to those described by Steinmuller et al 2 in patients having MEHMO syndrome. Steinmuller et al's patients also had a fatty liver and elevated fatty acids and acylcarnitine in blood.…”

“…Haplotype and linkage analysis in a large threegeneration family recently assigned the disease locus to Xp21.1-Xp22.13 in a region flanked by CYBB and DXS365. 2,3 The multisystem involvement in this syndrome is typical of mitochondrial diseases where the defect in energy production may damage all organs. Although hypogonadism and obesity are not usually described in mitochondrial diseases, microcephaly, epileptic seizures, mental retardation are very characteristic.…”

“…Steinmuller et al 2 It is characterised by profound mental retardation, microcephaly, hypogonadism, epilepsy and obesity. Haplotype and linkage analysis in a large threegeneration family recently assigned the disease locus to Xp21.1-Xp22.13 in a region flanked by CYBB and DXS365.…”

MEHMO, a novel syndrome: assignment of disease locus to Xp21.1–p22.13

“…1 We believe, however, that this is not a novel disorder, but the same syndrome we described in a French-language publication in 1989. 2 The clinical similarities between the patients of Steinmüller et al and our own -particularly the facies, obesity, severe developmental delay and peculiar neurological status -are so striking that one can hardly doubt that these boys all suffer from the same syndrome ( Figure 1).…”

“…We read with interest the article by Steinmüller et al 1 entitled MEHMO (mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1-p22.13. 1 We believe, however, that this is not a novel disorder, but the same syndrome we described in a French-language publication in 1989.…”