case of megalencephalic leukoencephalopathy with subcortical cysts in an iranian consanguineous family

Megalencephalic leukoencephalopathy with subcortical cysts [MLC] is an autosomal recessive disorder characterized by macrocephaly, and slowly progressive clinical course marked by ataxia, spasticity and mental decline. MLC is caused by mutations in the gene MLC1 which encodes a novel protein, MLC1. A 4-year-old girl with macrocephaly, spasticity, ataxia and abnormal cerebral white matter and subcortical cysts in brain MRI diagnosed with MLC. This is the first report of MLC in an Iranian family. MLC1 should be considered in children with macrocephaly and slowly progressive psychomotor decline. This disease can be prenatally diagnosed and genetic counseling offered for future pregnancies

History and evolution of Genetics in the World and our country

In ancient times, our ancestors' imaginations about human reproduction and trait inheritance have mostly been of fabulous and superstitious nature. Beliefs of the philosophers of those days, including Greek philosophers, did not correspond with the principles of today's genetics in any way. The oldest scientific hypothesis in this regards is attributed to Hippocrates [460-370 B.C.], which denotes, in summary, that" man's water [semen] is an extract from the whole body containing all characteristics of the father, which is transferred to the child ". Aristotle [384-322 B.C.] believed that the semen originated from blood and gave life to the clotted menstrual blood after entering the uterus, producing a male fetus if the male force was stronger and a female fetus in case the female force was dominant. In general, they believed that all characteristics was inherited only from father, and the role of mother was just to nourish and nurture the fetus. This belief persisted for about 2000 years, until the time that William Harvey [1585 - 1675], the discoverer of blood circulation and a skilled hunter, showed that there were no traces of blood clots in the uterus of the pregnant hunted gazelles. After discovery of ovum by de Graaf in the second half of the seventeenth century, Malpigy proposed the preformation [ovist] theory. He believed that " inside the ovum, there is a miniature of a human being, which would start to grow and develop by entering of semen into the uterus. And after the discovery of spermatozoa by Hartsoeker and Van Ham Leeu Wenhock, this role was delegated to the spermatozoid. These contradictory and inappropriate beliefs were subject to discussions and disputes until the close of eighteenth century, when CE Wolf showed that the embryo is a product of fertilization of ovum with spermatozoid. It is interesting to know that in contrast to Greek philosophy and different western beliefs, the Sage Ferdowsi, Iranian great and famous poet, eight hundred years before Wolfs discovery [in the tenth century] as in description of the royal characteristics of Kaykhosrow, son of Siavash, grand son of Kaykavoos, and grand son of Afrasyab [from mother side] has describedthe equal participation of man and woman in development of fetus and inheritance of characteristics explicitly in exact accordance with scientific principles of today. And even more interesting is to know that in the Tabserat-el-avam, written in the first half of the thirteenth century, characteristics of the spermatozoid have been described in an appealing way and almost the same as what we know today. Furthermore, we have got interesting documents regarding origins and inheritance of some diseases from Mohammad Bin Zakaryaye Razi [great Iranian chemist, discoverer of alcohol], Buali Sina [Avicenna], and the sage Gorgani, which indicate their cognizance of the inheritance [genetics] fundamentals

[History of prenantal diagnosis in Iran. Report of chromosomal study of 2583 amniotic fluid cells]

Early prenatal diagnosis and prevention of the birth of affected children was assumed to the most practical means of prevention. The first attempt was made in 1934 and the first chromosomal study of amniotic fluid cells was performed in 1967. In 1987 we performed the first chromosomal study of amniotic fluid cells in Iran, 20 years after the first report. Since then we have done 4600 prenatal diagnosis on amniotic fluid cells and chrorionic villi samples. These samples were referred for various reasons including 1064 hemoglobinopathies, 116 myopathies and 3235 for chromosomal study, 105 metabolic disorders, 17 nucleotide repeats, and 8 cases of skin disorders. We are reporting result of chromosomal study of 2583 amniotic fluid cells, among these cases, 90 had unbalanced karyotypes, sonography detected various anomalies in 20 cases and the remainder 2463 had normal or balanced karyotypes, complication of sampling leading to abortion of termination were in the order of 0.2% culture families were 0.27%; and sex chromosomes were erroneously reported in 1 case only. Initially, in the early years, prenatal diagnosis was not very successful as public awareness, physicians' knowledge, expenses and lack of therapeutic abortion were limiting factors. Fortunately, in recent years, progress in techniques and the feasibility of detection has allowed for major changes in this trend. Today, our data indicate that PND has progressed in Iran and its reliability and specificity are comparable to other centers in the world