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Corpus callosum defect with dilated lateral ventricles and an occipital cyst in an Egyptian child with Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb, heart, and urinary system defects that are present in approximately 30%-50% of patients. Herein, we present a patient with Diamond-Blackfan anemia associated craniofacial anomalies, pyramidal manifestations and corpus callosum defect and dilated lateral ventricles opening with each other and opening with a posterior occipital cyst, an association that to date has not been reported.Key Words: Diamond-Blackfan anemia, corpus callosum, dilated ventricles, occipital cyst

Peters’ plus syndrome in an Egyptian patient with some unusual features

We report on a 1 5/12 years old male patient with clinical manifestations of Peters’-Plus syndrome. The patient had Peters’ anomaly (central adherent leucoma, bilateral congenital cataract), growth deficiency, disproportionate short stature, mild mental retardation. He had also short hands with nearly complete cutanous syndactly between the third and the forth fingers and broad thumbs, bilateral rocker bottom heals, bilateral partial cutanous syndactly between the 2nd and the 3rd toes with broad big toes and genitourinary malformations with generalized hypotonia. Some of the features reported in Kabuki make-up syndrome were also present in our patient including mainly hepatomegaly and craniosynostosis. However in our patient some features were present not reported before in both syndromes including thick tounge, thick everted lower lip, anteverted naris, broad thumb and big toe, kyphoscoliosis in lower back, bilateral rocker bottom heals and splenomegaly.Key Words: Peters’ anomaly, craniosynostosis, hypospadius

CASE REPORT Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.KEYWORDS Moebius syndrome; Macular hyperpigmentation; Pectoralis major muscle; Cranial nerves; Ptosis; Facial nerve pals

Case Report: Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth (macrostomia), gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal polymicrogyria.Conclusion: This patient represents a mild case of Baraitser–Winter syndrome.Keywords: Baraitser–Winter syndrome; Optic nerve coloboma; Ptosis; Mental retardatio

Berardinelli–Seip syndrome type 2 – An Egyptian child

We report a 2.5 year old male, first in order of birth of first cousin consanguineous parents with the typical features of Berardinelli–Seip congenital lipodystrophy 2 (BSCL2) since birth with moderate mental retardation. He had generalized lipodystrophy with various dermatologic and systemic manifestations. The patient looked older than his age with the loss of buccal pad of fat, hypertrichosis mainly on the back and lower limbs, thick scalp hair, mild prognathism, large hands and feet with prominent joints and muscular hypertrophy. Acanthosis nigricans was evident over the neck and both axillae inspite of the normal level of sugar and insulin. The abdomen was markedly prominent with mild hepatosplenomegaly and enlarged external genitals. Echo-cardiography demonstrated cardiac hypertrophy. Triglyceride level was high with reduced high density lipoproteins (HDL)

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with BPES

Case Report: Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.Keywords Meier-Gorlin syndrome; Ear-patella-short stature syndrome; Primordial dwarfism; Microtia; Absent patell

Case Report: Oral–Facial–Digital Syndrome type VI with self mutilations

We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth sign by MRI brain, bilateral mesoaxial polydactyly (hexadactyly), and developmental delay. The patient had self mutilations which was not reported before in OFDS VI except once.Keywords: Oral–Facial–Digital Syndrome type VI; Varadi–Papp syndrome; Self mutilation; Polydactyly; Molar tooth sign; Peudocleft li

Mitochondrial alterations in children with chronic liver disease

Background: Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death.Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children’s Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease (GI=patients with Wilson’s disease (WD), GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other thanWilson’s and chronic hepatitis C).Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used forstudying mitochondrial DNA deletions by PCR.Results: Liver steatosis was higher in the group of patients with Wilson’s disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson’s disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to bemore prevalent among patients with chronic  hepatitis infection.Three of our patients (11.53%) had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients (32%) were considered to have mild mitochondrial affection,9 patients (41%) had moderate mitochondrial affection, while 6 patients (27%) had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection.Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis