Biomedical subjects

N A Meguid

Publications and source records attributed to N A Meguid.

At least 19 recordsLinked to original sources

PubMed2004

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

AIM: To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutières syndrome (AGS) from Egypt. METHODS: Ten patients with progressive encephalopathy, bilateral calcification of the basal ganglia and spastic quadriplegia were described. Feeding difficulties, irritability, unexplained episodic fever and acrocyanosis were also observed. They were diagnosed as AGS after excluding possible non-genetic causes (especially TORCH) and because of the high interferon-alpha (IFN-alpha) level in cerebrospinal fluid (CSF) in two children who underwent this specific investigation. RESULTS: Six patients had postnatal microcephaly. Putamen was by far the most common site of calcification (nine cases) inside the basal ganglia. Calcifications were extended to the white matter, periventricular and cerebellum in three cases. Brain atrophy and/or white matter demyelination were evident in most of the cases. Further, hypogenesis of corpus callosum was detected in two cases; one of them had in addition cerebellar hypoplasia, atrial septal defect (ASD) and horseshoe kidney. To the best of our knowledge, the association of these congenital abnormalities has not been reported before in AGS. Eight families were consanguineous. CONCLUSION: This paper presents variability in both age of onset, clinical picture and neuroimaging findings even in the same family, comprising new congenital abnormalities associated with AGS and subsequently expanding the spectrum of heterogeneity. The observation of familial cases and both affected males and females emphasized the major role of the single gene inheritance.

Abnormalities, Multiple↗

PubMed2001

Evaluation of superoxide dismutase and glutathione peroxidase enzymes and their cofactors in Egyptian children with Down's syndrome.

The present work investigated the activity of Cu/Zn superoxide dismutase enzyme (SOD) in red blood cells and glutathione peroxidase enzyme (GPx) in whole blood by spectrophotometric methods. Plasma levels of the cofactors copper and zinc and whole-blood selenium were evaluated using atomic absorption spectrophotometer. The study included a population of 18 Down's syndrome (DS) patients with complete trisomy 21 (group 1), translocations (group 2), and mosaicism (group 3), and their 15 matched controls. The purpose of this work was to study the gene dosage effect of SOD and its consequence on GPx enzyme and the various cofactors, and to find out correlations with developmental fields. Our results showed that in the population with complete trisomy 21 and translocations, SOD and GPx activities were increased, whereas in cases with mosaicism, the enzymes activities were within normal limits. Plasma copper concentrations were increased, whereas whole-blood selenium concentrations were significantly decreased in the three DS groups. Plasma zinc levels were within normal in all patients. We concluded that changes in trace elements and enzyme activities were not related to age or sex. Also, there was no correlation between the enzyme levels and the developmental activities. Our results are useful tools for identifying nutritional status and guiding antioxidant intervention.

Case-Control Studies↗

PubMed2000

Lenz microphthalmia syndrome: three additional cases with rare associated anomalies.

Lenz microphthalmia syndrome is an extremely rare inherited disorder, characterized by unilateral or bilateral microphthalmia. In rare cases affected patients exhibit complete absence of eye or blepharoptosis resulting in visual impairment. Additional physical abnormalities are often associated with this disorder, orofacial, digital, skeletal and urogenital abnormalities. Here we present three cases of Lenz microphthalmia with additional manifestations: two brothers of first cousin mating, the elder one has bilateral congenital cataract which is a rare ophthalmological finding in this syndrome and a third case who presented to us because of ambiguous genitalia. She was 12 years old, and reared as a female. Chromosomal analysis showed 46,XY karyotype, and hormonal studies indicated 5-alpha reductase deficiency. This is the first report of the association of 5-alpha reductase deficiency with Lenz microphthalmia syndrome.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase↗

PubMed1998

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

Abnormalities, Multiple↗

PubMed1997

GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.

We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.

Abnormalities, Multiple↗

PubMed1996

COFS syndrome with familial 1;16 translocation.

We report on an Egyptian girl with phenotypic abnormalities of cerebro-oculofacio-skeletal syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis and flexure contracture of the elbows and knees. CT scan showed bilateral symmetrical intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1;16)(q23;q13) in all cells transmitted from a phenotypically normal mother with a similar balanced translocation mosaicism. We suggest that genes for COFS syndrome could be located on chromosome 1q23 or 16q13. We recommend chromosomal analysis and DNA studies in cases with COFS manifestations.

Bone and Bones↗

PubMed1994

An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt.

The aim of this investigation was to study the epidemiologic and genetic aspects of mental subnormality (MS) in Assiut Governorate, representing the Egyptian population. The sample comprised 3000 randomly selected subjects from three localities: one urban (Assiut City) and two adjacent rural villages. Age-matched controls were chosen for comparison. The Stanford-Binet test was administered to each individual. During history-taking special attention was paid to consanguinity and categorization on a genetic basis. The results revealed 116 cases with MS, showing an overall prevalence of 3.9%, which varied in the three locations: 3.4% in Assiut City, and 3.8% and 4.4% in the two rural locations. Clinico-genetic classification revealed the following: idiopathic MS 27.6%, MCA/MR syndromes 24.1%, primary CNS defect 12.9%, Martin-Bell syndrome 10.3%, inborn errors of metabolism 9.5%, tetratogenic and environmental causes 5.2%, MS and epilepsy 4.3%, chromosomal disorders 3.4% and MS associated with psychiatric disorder 2.6%. Parental consanguinity was found in 65% of the total sample, which emphasizes the role played by that factor in the etiology of mental subnormality in Egypt.

Adolescent↗

PubMed1993

Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot.

A 6-year-old Egyptian boy with frontonasal dysplasia (FND) and lipoma of the corpus callosum associated with tetralogy of Fallot is reported. The main features were severe hypertelorism, downward slanted palpebral fissures, bilateral epicanthal folds, a grossly deformed nose with notched alae nasi, absent nasal tip and long philtrum. A computerized tomography (CT) scan of the brain showed cerebral atrophy and lipoma of the corpus callosum. While marked neurological symptoms have been reported in cases with lipoma of the corpus callosum in the absence of FND, the present case and previous reports showed minor neurological alterations when lipoma of the corpus callosum was associated with FND. From the findings in this case and previous reports, it is possible to conclude that lipoma of the corpus callosum associated with FND is always located in the anterior part of the corpus callosum. The etiology of FND remains uncertain. While multifactorial inheritance has been proposed, parental consanguinity with young parental age in the present case cannot exclude autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1992

Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.

A report is made on a rare isodicentric chromosome 18 in an abnormal male infant whose karyotype was 46,XY,idic(18)(p11.31----qter), confirmed by in situ hybridization using non-radioactive biotin-labelled 18 probe. His clinical features were similar to 18 trisomy syndrome. The literature concerning isochromosome 18 is reviewed.

Abnormalities, Multiple↗

PubMed1990

Heterozygous expression of Lesch-Nyhan syndrome clinical and ultrastructural studies.

The study comprised two cases (male & female sibs) from one family, with Lesch-Nyhan Syndrome. They were subjected to clinical evaluation, pedigree construction, uric acid estimation in blood, urates in urine, metabolic screening of blood and urine for amino acids, examination of oral cavity, histological studies of the gingiva by light and electron microscopy as well as buccal smear for Barr & Y bodies (for the female). The proband, a six years old female presented with self-mutilation, mental retardation, hyperactivity and aggression. She had bitten her index finger causing amputation of its distal phalanx. On family study her younger brother (9 months) was found to have increased uric acid and less severe neurologic involvement. The serum uric acid level of the affected female was higher. Her Barr body showed normal pattern. Oral cavity examination showed no abnormalities. Histological examination of the gingiva showed macrophages around the blood vessels. Ultrastructural studies showed more or less normal epithelium. There was collection of macrophages around the blood vessels in the sub-epithelial layer, the cytoplasm of these macrophages contained stippled cytoplasmic inclusions. The surrounding connective tissue showed thin collagen fibers with sharp delineation between the epithelial and connective tissue layers indicating poor quality of collagen. There was no histological difference between the hemizygous male and the heterozygous female. The present study indicates heterozygous expression of Lesch-Nyhan Syndrome at both the clinical and the ultrastructural levels in favour of extreme lyonization or X-chromosome deletion in the affected female. Our findings also indicate that ultrastructural studies could be sensitive indicators of abnormal uric acid metabolism. Further studies are needed to compare the phenotypic expression of hemizygotes and heterozygotes with Lesch-Nyhan Syndrome at both the clinical and ultrastructural levels.

Child↗

PubMed1989

Hypogenitalism in the acrocallosal syndrome.

We have studied a boy with acrocallosal syndrome and hypogenitalism. He was the offspring of double first cousins. He had unusual facial appearance, postaxial polydactyly with unilateral soft tissue syndactyly of fingers, mental retardation, and absence of corpus callosum. Findings in the present case were compared with those of previously reported cases. Other syndromes associated with agenesis of the corpus callosum must be differentiated. The main differences between the acrocallosal syndrome and the Greig syndrome are outlined with particular emphasis on digital anomalies. The acrocallosal syndrome is an autosomal recessive trait with variable expressivity. Hypogenitalism may be a presenting feature. Positive consanguinity provides further evidence for autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1988