Search

Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement. Keywords: Ichthyosis; Limb reduction; CHILD; Autosomal recessive

Background Inborn errors of metabolism (IEM) have a high morbidity and mortality in neonates. Unfortunately, there is no nationwide neonatal screen in Egypt, so several cases may be missed. Objective The aim of this work was to detect the prevalence of IEM among neonates with suspected IEM, and to diagnose IEM as early as possible in order to minimize morbidity and mortality in high risk neonates. Subjects and methods This prospective study included 40 neonates admitted to the Elmahalla General Governmental Hospital Neonatal Intensive Care Unit (NICU) with sepsis like symptoms (lethargy, hypoactivity, poor suckling, and poor crying), convulsions, persistent metabolic acidosis, persistent vomiting, or previous sib death of unidentified cause (neonates with suspected IEM). All included patients were subjected to detailed full history, through clinical examination, laboratory investigations, and metabolic screening by tandem mass spectrometry (MS/MS). Other investigations for IEM including lactate, ammonia, and galactose 1 phosphate levels in the blood, as well as organic acids in urine were done according to each case. Results 13 patients (32.5%) were diagnosed as having IEM, 7 of them (53.8%) had urea cycle defect, 2 (15.4%) had maple syrup urine disease, while methylmalonic acidemia, fatty acid oxidation defect, mitochondrial disease, and galactosemia were diagnosed in one patient each (7.7%). Out of these patients, 12 patients (30%) were discharged from NICU after therapy, and one patient (2.5%) died (the one who had mitochondrial disease). Two patients were diagnosed as diseases other than IEM, one had hyperinsulinism and another one had congenital myopathy, while 2 patients were proved to be normal. Five patients (12.5%) were suspected to have IEM (tyrosinemia, mitochondrial disease, organic acidemia) 4 of them died before final diagnosis, and one transferred to another NICU. There was a significant difference between diagnosed and undiagnosed patients as regards history of sibling death (p = 0.012), plasma ammonia level (p = 0.002), and discharge from NICU (p = 0.000). Conclusion IEM represent a high percent (32.5%) of neonates who had sepsis like symptoms, and when diagnosed, patients showed marked improvement after therapy. IEM should be considered in differential diagnosis of the sick neonates, and investigations, and management should be started rapidly to decrease morbidity, and mortality till nationwide screen for IEM is applied in Egypt.

We report a fifteen month old Egyptian male child, the third in order of birth of healthy non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb. The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple. The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position. There is limited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plantar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection. We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child.

A female, 26 months old with features supporting the diagnosis of neonatal progeroid syndrome was presented. She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair and eyebrows, prominent scalp veins, greatly widened anterior fontanels, and moderate mental retardation. The patient had also some features not reported previously as premature loss of milk teeth, large mouth, atrophic gums, protruded lower jaw, and cafe aulait skin patches on lower limbs. Nail dystrophy was also detected. She had local depression of the left parietal bone on CT brain, white matter demyelination in MRI brain, and high level of cholesterol. Keywords : The neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome; Premature aging; Milk teeth; Nail dystrophy; Cafe au lait skin patches

Rubinstein-Taybi Syndrome (RTS) is a multiple congenital anomaly syndrome characterized by mental retardation, broad thumbs and toes, short stature, growth retardation and distinctive facial features. We report an Egyptian patient, 5 months old with mild RTS. Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly evident. Also our patient had dysplastic toe nails and bilateral congenial glaucoma, with megalocornea and corneal haziness. Congenital glaucoma is considered a rare complication in RTS and dysplastic nails were not previously reported in RTS. High resolution karyotype was normal. Previous studies have documented considerable change in facial phenotype and skeletal changes with age. We consider our patient as having mild form of RTS and the features will be more evident as she grows older. Keywords : Rubinstein-Taybi Syndrome; Congenital glaucoma; Megalocornea; Broad halluces; Kyphosis; Broad thumbs; Dysplastic nails

We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint contractures especially affecting the lower limbs). What characterizes out patient was the extensive pterygia of the fingers which kept them permanently flexed, while they were very mild in the neck, axillary folds and knee joints. Our patient suffered also from mental retardation although mentality is commonly reported to be normal in this syndrome. MRI of the spine revealed widened spinal canal and engorged intraspinal vessels, which were not reported before. Keywords : Multiple pterygium syndrome; Joint contractures; Kyphoscoliosis; Autosomal recessive

As clinical geneticists, we recently reviewed our 43years experience in an attempt to represent the frequency of genetic disorders in the Division of Genetics at Pediatric Hospital, Faculty of Medicine, Ain-Shams University, Cairo, Egypt, during the period from 1966 to 2009.All patients (from birth up to 18years) suspected of having a genetic disorder were referred to the Genetics Clinic in the same hospital. 28,689 Patients were proved to have genetic disorders after full investigations among 660,280 children attending the Pediatrics Hospital which constituted 4.35% or 43.5/1000. Neurologic disorders were the most common (31.38%) followed by hematologic disorders (18.48%), chromosomal abnormalities (11.51%), fetal, neonatal and infant deaths (6.56%), special senses (5.82%), inborn errors of metabolism (4.24%), endocrine disorders (3.87%), skeletal disorders (3.17%), genito-gonadal anomalies (3.10%), neuromuscular disorders (2.86%), syndromes (2.08%), genodermatoses (1.92%), cardiac disorders (1.47%), gastrointestinal tract anomalies (1.37%), renal anomalies (0.26%), connective tissue disorders (0.26%), respiratory defects (0.22%), vascular anomalies (0.21%), and immunologic disorders were the least common (0.19%).Our study showed a high prevalence of genetic diseases among Egyptians which are nearly the same in the other studies in Egypt and are rapidly becoming a major public health concern. Establishment of national or hospital based registers for genetic disorders is very important to know the magnitude of the problem so that the national program for the prevention of genetic disorders can be implemented.

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.Keywords: Hemifacial Microsomia; Oculo–Auriculo–Vertebral Dysplasia; Epibulber dermoid tumor; Goldenhar syndrome

Ocular changes in genetically disabled children are great and of special importance. The aim of the present study was to delineate the nature and frequency of ocular defects in genetically disabled children. A cross sectional study was carried out. It included 95 genetically disabled children who were chosen from the medical genetics and ophthalmic departments, Ain-Shams University Hospitals, and examined for any associated ocular abnormalities. Studied patients were divided into six groups (Group I: Chromosomal disorders (Down syndrome), Group II: Genetic syndromes, Group III: Cranial anomalies, Group IV: Inborn errors of metabolism (IEM), Group V: Cerebral palsy, Group VI: Mental retardation). Anomalies of the eyelids were detected in 63.1% of our patients. They were significantly increased in group I [Chromosomal disorders (Down syndrome)], compared to other groups. Errors of refraction were detected in all Down syndrome patients.On the other hand some ocular findings were present in our Down syndrome patients and not reported in the literature before; these include, lacrimal fistula, lagophthalmos, heterochromia, macrocornea and ectropion in 3.3% of patients, tortous retinal vessels, entropion, and prominent upper punctum in 6.6%, ptosis in 10%, microcornea, absent foveal reflex, and blepharophimosis in 13.3% of our cases. Lacrimal apparatus abnormalities were detected in 11.5% of our patients, the highest frequency was detected among the chromosomal disorder group 27%. Conjunctival and scleral abnormalities were also detected in 10.5% of our patients, where the group of chromosomal disorders had the highest frequency (20%). Cornea and anterior chamber abnormalities were detected in 30.5%, these abnormalities had the same frequency (33%) in the groups of chromosomal disorders, genetic syndromes and inborn errors of metabolism. Iris and pupil abnormalities were detected in 15.7% of our patients. Lens abnormalities were detected in 10.5% of our patients, where the group of inborn errors of metabolism had the highest frequency (44%). Ocular muscles and mobility abnormalities were diagnosed in 47.3% of our patients. Fundus examination revealed abnormalities in 34.7% of patients,where the group of cerebral palsy had the highest frequency (50%).Our results emphasize that, the earlier and better the visual sense function, the greater the chance the child will achieve his potential.The ophthalmologist, paediatricians, geneticists must work hand in hand for detection of ocular disorders in genetically disabled children to initiate diagnostic and therapeutic measures to control the disease.Keywords: Disability; Genetics; Ocular changes; Handicap; Chromosomal abnormalities

In 40–60% of congenital malformations, the cause is unknown. Genetic factors account for approximately 15%; environmental factors produce approximately 10%; a combination of genetic and environmental influences produces 20–25%. The study aims to document prevalence and patterns of congenital malformations detected at birth in Assiut University hospital and clarify underlying chromosomal abnormalities of such malformations. Also possible predisposing factors will be studied.Newborns with apparent congenital anomalies were selected from 5000 newborn infants delivered consecutively at the department of Obstetrics and Gynecology within 7months. Full maternal history, family history, perinatal history, pedigree construction as well as clinical examinations and investigations including karyotype were done. Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highest frequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies (19.4%), genital organs anomalies (16.5%), gastrointestinal tract (GIT) anomalies (14.6%), eye and ear anomalies (8.7%), and lastly urinary system and others anomalies in 3.9% each. Breech presentation, perinatal asphyxia, incubator admission and the need for resuscitation were significantly associated with the presence of congenital anomalies. Higher prevalence of congenital anomalies was observed in neonates of grand multiparous women, diabetic mothers delivery by CS, cases with oligohydramnios and with positive consanguinity.Chromosomal abnormalities were found in 28 cases (27.18% of malformed cases) (5.6/1000). Numerical abnormalities were found in 22 cases (21.35%) (4.4/1000), Down syndrome in 16 cases, Edward syndrome in two cases, Patau syndrome in one case and Turner syndrome (monosomy) in three cases. Structural abnormalities were present in six cases (5.83%) (1.2/1000), Down syndrome in two cases, Turner syndrome in two cases, balanced translocation [(12;13)(q15;q34)] with dysmorphic features and undescended testis in one case and deletion 9(q11;q31) with disorder of sex development in one case.To conclude karyotype should not be done routinely for all malformed cases as many of them are due to genetic syndromes. So, it is more useful to consult expert dysmorphologists for proper syndrome identification and for the decision to use more recent molecular techniques for diagnosis.

Objectives Genetic typing of the intronic (CA)n loci within the dystrophin gene was exploited for linkage analysis and diagnosis of carrier status. Design and methods IP-RP-HPLC was developed for genotyping of 98 chromosomes. Results The typing of 2-bp STRs with mean SD of ± 0.43 bp ensured an allele's identity with 99.7% confidence. Conclusion The automation enabled the accurate sizing of unlabeled alleles with an excellent reproducibility of 100% with significant labor saving and reduced reagent costs.