In this case report we discuss essential issue to be considered with regard to the clinical genetic testing in the epilepsies. The identification of genes that influence risk for the epilepsies has extremely important implications for both research and clinical practice. In a research context, information obtained may lead to the development of new treatments targeted to specific mechanisms, or even to ways of preventing epileptogenesis. In clinical practice, the use of genetic information can either clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk of developing epilepsy because of a family history (predictive testing). This 8-year old girl presented because of rapid regression in the cognitive function and had disturbed consciousness which started few weeks before admission. History of delayed milestones, epilepsy, subtle facial dysmorphology, ataxic gait and happy demeanor collectively raised suspicion of genetic/metabolic disorder. Genetic study discovered a deletion involving the maternally derived chromosome 15q11 region and this deletion is associated with Angelman Syndrome.
Pyometra is an uncommon gynecological condition resulted from occlusion of the cervix usually by a malignant condition. It has an incidence of 0.1%-0.5%. Untreated pyometra leads to rupture uterus and acute infective peritonitis presented as acute abdomen and needs urgent surgical intervention. Pyometra resulted from occlusion of the vagina is very rare. No cases have been described in the English literature to the best of our knowledge and in the PubMed. The purpose of reporting this case is to show that occlusion of the vagina could occur in postmenopausal women as a consequence of local infection and results in pyometra and also to show that pyometra can be presented in a different way apart from the classical presentation. The way to
... Show MoreBackground:Many parents of autistic child do well despite their child’s disability, they have the ability to withstand hardship and rebound from adversity, and becoming more strengthened, parents have managed to overcome the constant challenge by using their resilience to adapt well in the face of adversity.
Patients and Methods: A Descriptive analytical study was carried out from May 25, 2009 to June 20, 2010 in order to determine parents' resilience in dealing with the impact of raising a child with autism. A purposive (non-probability) sample of (100) parents raising a child with autism who was attending the out patient psychiatric clinic at Child's Central Teaching Hospital in B
... Show MoreLeigh's syndrome, or sub acute necrotizing encephalomyelopathy, is a rare inherited neurometabolic disease of infancy and early childhood with variable course and prognosis. Rarely, it occurs in juveniles and adults. The diagnosis is difficult and still remains to challenge the clinicians on the basis of history; hence the role of imaging is very essential. It is the neuroimaging, chiefly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Late-onset varieties are rare and only few cases were reported all over the world. Here, I report a case of late onset (juvenile) Leigh syndrome presenting with an acute polyneuropathy. Neuroimaging confi
... Show MoreHTH Ahmed Dheyaa Al-Obaidi,", Ali Tarik Abdulwahid', Mustafa Najah Al-Obaidi", Abeer Mundher Ali', eNeurologicalSci, 2023
Background: Seasonal variation and gender preponderance have not been adequately studied in Guillain-Barre syndrome (GBS).
Objective: This study aims to evaluate the seasonal variation and sex preponderance in children with Guillian Barré Syndrome.
Patients and methods: A cross sectional study was carried out by reviewing wards’ registry of all cases with Guillian Barré Syndrome admitted to Children Welfare Teaching Hospital during a 10-year period (1999 - 2008). Age, sex, seasonal distribution, residence and outcome were analysed.
Results: Guillian Barré Syndrome was diagnosed in 217 (126 boys, 91 girls) patients and the annual hospital rate of admission was 22.9 /100000 children. There was increase annual incidence from 1
Background: Joubert syndrome (JS) is a very rare autosomal recessive disorder characterized by agenesis of cerebellar vermis, abnormal eye movements, respiratory irregularities, and delayed generalized motor development. Retinal dystrophy and cystic kidneys may also be associated with this clinical syndrome. The importance of recognizing JS is related to the outcome and its potential complications. This syndrome is difficult to diagnose clinically because of its variable phenotype. Its neuroimaging hallmarks include the characteristic molar tooth sign and bat wing-shaped fourth ventricle
Background: Sirenomelia is a rare congenital malformation characterized by fusion of the lower limbs giving a characteristic mermaid-like appearance to the affected fetus. It is commonly associated with gastrointestinal, genitourinary, cardiovascular and musculoskeletal system defects.
Objective : To report the clinical manifestations of an extremely rare and complex malformation along with the associated anomalies.
Case report: A case of sirenomelia was reported in a one of a set of twin delivered at term by caesarean section to a 39 year old Iraqi mother. According to the search that has been done, it seems that this is the first reported case in this country. The following associated anomalies ( imperforate anus, absence of exte
collision tumor is the presence of two histopathologically distinct tumors in the same anatomical site. It is a rare pathology of the thyroid gland that makes diagnosis and treatment challenging. This is a case report of a collision tumor of the thyroid gland.
Nonmissile penetrating spine injury (NMPSI) represents a small percent of spinal cord injuries (SCIs), estimated at 0.8% in Western countries. Regarding the causes, an NMPSI injury caused by a screwdriver is rare. This study reports a case of a retained double-headed screwdriver in a 37-year-old man who sustained a stab injury to the back of the neck, leaving the patient with a C4 Brown-Sequard syndrome (BSS). We discuss the intricacies of the surgical management of such cases with a literature review.
PubMed database was searched by the following combined formula of medical subjects headings,
Background: Fibromyalgia syndrome and psoriasis share various soft problems. In addition, patients with psoriasis can experience subjective joint swelling and pain (Fibromyalgia syndrome) and objective swelling (Psoriatic arthritis) with the latter requiring systemic disease modifying antirheumatic drugs while the former requires anti-fibromyalgia measures.
Objective: To assess the rate of fibromyalgia syndrome in a sample of Iraqi patients with psoriasis.
Patients and Method: A sample of one hundred and twenty Iraqi patients with psoriasis and another one hundred and twenty healthy individuals matched for age and sex, serving as control group were studied. Full history was taken and complete clinical examination was done and vario