Biomedical subjects
Publications and source records attributed to M H Shokeir.
Fragile X syndrome is a common cause of mental retardation. We report the clinical and pathologic features of a patient with fragile X syndrome who developed amyotrophic lateral sclerosis (ALS) at a relatively young age. Although the occurrence of these 2 diseases could be a mere coincidence, the development of ALS in this patient might be related to the chromosomal aberration of fragile X syndrome.
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The manifestations of "adult" polycystic disease of the kidneys are reported in fetal life and during infancy. At the time of diagnosis, the patients in whom the disorder was detected were a stillborn fetus, a liveborn baby immediately after birth, a neonate at 3 weeks of age, and three infants between 2 1/2 and 4 months of life. In all six cases, who were unrelated, similar implication of other family members was elicited, and in four, parental disease was documented. As expected, the disorder in these families was transmitted in an autosomal dominant fashion. Apart from the youngsters reported here, all the other known patients in the respective families were of adult age. The disease was fatal in all of our patients, with death ensuing (except, of course, in the stillbirth) from hours to weeks after the diagnosis. This report underlines the variability in the age of expression and the mode of presentation of "adult" polycystic kidney disease.
Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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Thirteen unrelated females ranging in age from 15 to 28 years old have recently been recognized to have aplasia of the müllerian duct derivatives. They presented one or both of two major complaints: amenorrhea and difficulty or pain on attempted sexual intercourse. Clinically all cases were characterized by absence of vagina and failure to palpate the uterus rectally; normal mature external genitalia; normal stature, intellect, hearing and vision; normal secondary sex characteristics including breast development, pubic and axillary hair. Libido was normally preserved and sexual self-identification was unambiguously feminine. Apart from the pelvic findings, the affected individuals were phenotypically unremarkable women. Laparoscopic examination revealed absent uteri, absent or rudimentary tubes, but normally developed ovaries. Cytogenetic evaluation disclosed normal female karyotypes with normal banding patterns on all patients. Endocrine investigations revealed female cyclic pattern consistent with normal ovarian endocrine function. Biopsy specimens on the ovaries of 5 patients were histologically unremarkable with evidence of normal follicular activity. Investigation of the families of these patients revealed similarly affected individuals in 10 families. In 8 of these the pattern of transmission was consistent with autosomal dominant inheritance with sex limitation to XX individuals; in 2 the distribution of affected individuals was compatible with either sex-limited autosomal dominant or autosomal recessive inheritance. Though unlikely, polygenic inheritance remains a formal possibility. In 3 families, apart from the propositae, no other affected females were ascertained. In these, the etiology is either teratogenic or genetic with autosomal dominant or recessive inheritance, and sex limitation to females. Three further cases with partial aplasia or the Rokitansky-Kuster-Hauser syndrome (RKHS) were ascertained. No other similarly affected individuals were encountered in their families.
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A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair, and the rest of the body hair is reported. Mental subnormality was noted in eight and psychomotor epilepsy in seven out of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted. The disorder, which affected seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.
There are no precise data for determining the extent of somatic damage from small doses of radiation used in diagnostic radiology. Diagnostic radiation given to pregnant women, knowingly or unknowingly, should rarely reach teratogenic levels causing brain and eye abnormalities. Evidence suggests that it does increase the risk of childhood malignancy, especially leukemia. Although rapidly growing tissues seem most susceptible, all radiation probably carries a very small risk of carcinogenesis. Genetic damage is equally difficult to estimate. Diagnostic radiation of females, even in childhood, may be related to an increased incidence of Down's syndrome in older mothers. Radiation also causes point mutations, which may explain the increase of some genetic abnormalities in progeny of older fathers. Whenever an abdominal or pelvic radiograph is ordered before the end of the reproductive period, there must be a potential benefit to balance the small risk involved.
Twenty-four patients with the 1st branchial arch (Goldenhar) syndrome have been ascertained ranging in age from newborn to 58 years. In infancy, the ocular, auricular, and palatal problems appear most prominent. In childhood, the correction of, or compensation for, hearing deficit assumes greater importance. Incoordination of deglutition, achalasia of the esophagus, hiatus hernia, and mobile cecum (hitherto unreported features) are characteristically troublesome in infancy and early childhood. Cosmetic problems though significant throughout, engender particular concern during adolescence and early adulthood. Spinal problems with early vertebral degenerative changes cause clinical difficulty requiring surgery during adulthood. Fertility appeared to be unimpaired and longevity is probably unaffected (although our oldest patient is less than 60 years old). Only three cases were mentally subnormal and none died following ascertainment.
A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a distinct type of muscular dystrophy with autosomal recessive inheritance. Since all "affected" colonies can be traced to one founding colony in South Dakota, the disease may have been introduced from Europe between 1874 and 1879. Furthermore, normal fertility and a high degree of inbreeding in a genetically isolated population have contributed to the maintenance of the disease in the population.
From a survey of newborn infants using truncate ascertainment of families through affected offspring, 64 cases of hypoplastic left heart syndrome (HLHS) were found. Pedigree information was obtained from 42 families. The incidence of HLHS, based on 64 affected infants, was 36.5/100,000 births. The incidence of HLHS with aortic and/or mitral atresia was 25.1/100,000 births. The recurrence among later siblings was about 2 %. Autosomal recessive hypothesis of transmission of this disorder was not supported. Using Edwards' formula, the observed recurrence among later siblings was compatible with polygenic inheritance.