Is shunt series X-ray necessary before revision of obstructed ventriculoperitoneal shunt?

The purpose of this study is to estimate whether routine preoperative shunt series [POSS] lead to clinically relevant new information, that helps in the management of ventriculoperitoneal shunt [VPS] obstruction, focusing on its role in diagnosing mechanical causes of shunt obstruction. Retrospective review of 64 consecutive patients who underwent revision of obstructed VPS in the neurosurgery division, at King Saud University, Riyadh, Saudi Arabia, between June 2002 and December 2011, assessing the proportion and impact of abnormal findings in the POSS. Sixty-nine POSS were performed for 64 patients before revision of obstructed VPS. Their mean age was 11.8 years, and 25 patients among them were females. Seventeen [24.6%] POSS had abnormal finding, that was statistically significant [P =0.005], and only 10 of them influenced the surgical technique or choice of therapeutic procedure [P =0.0001]. Positive findings were in the form of; broken/disconnected catheter [n =4], intra-abdominal migration of peritoneal catheter [n= 4], coiled/extra-peritoneal distal catheter [n= 2], short peritoneal end [n=1], and retained catheter/more than one shunt [n= 6]. However, majority of shunt series [75.4%] were normal. Routine shunt series X-ray alone is not a diagnostic tool for shunt malfunction, and POSS should be reserved for patients with proven shunt failure on CT or MRI scan. There was a significant impact of POSS on the operative decision for those undergoing revision for VPS obstruction.

Classification, clinical features, and genetics of neural tube defects

Neural tube defects [NTDs] constitute a major health burden [0.5-2/1000 pregnancies worldwide], and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non- genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for >10% of all NTDs; but a higher proportion [20%] has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one- carbon metabolism and planar cell polarity.

Epidemiology, prenatal management, and prevention of neural tube defects

This review article discusses the epidemiology, risk factors, prenatal screening, diagnosis, prevention potentials, and epidemiologic impact of neural tube defects [NTDs]. The average incidence of NTDs is 1/1000 births, with a marked geographic variation. In the developed countries, the incidence of NTDs has fallen over recent decades. However, it still remains high in the less-developed countries in Latin America, Africa, the Middle East, Asia, and the Far East [>1 to 11/1000 births]. Recognized NTDs risks include maternal diabetes, obesity, lower socioeconomic status, hyperthermia, and exposure to certain teratogens during the periconceptional period. Periconceptional folic acid supplementation decreased the prevalence of NTDs by 50-70%, and an obligatory folic acid fortification of food was adopted in several countries to reach women with unplanned pregnancies and those facing social deprivation. Prevention of NTDs can be accelerated if more, especially low income countries, adopted fortification of the staple food in their communities.

Split cord malformation associated with spinal open neural tube defect

To illustrate the clinical and radiological findings of split cord malformation [SCM] in patients with spinal open neural tube defect [SONTD], and report the outcome of their treatment. A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi Arabia between 1995 and 2010. There were 6 girls and 5 boys; their age ranged from less than a year to 9 years [mean 4.2 years]. Six patients had type I SCM, and 5 patients type II SCM. The CT and MRI imaging showed characteristic bony, cartilaginous, or fibrous septum, and other SONTD-associated anomalies. Seven patients were graded A and B according to the Frankel grading score, and none of them required surgery, while worsening neurology led to surgical intervention in 3 patients, with clinical improvement after surgery, and one patient that underwent cord untethering remained stable. Split cord malformation is not uncommon among patients with SONTD. It tends to involve mainly the lumbar spine, and female predominance is more remarkable in type I. Neurological manifestations of SCM may be superimposed with SONTD. Surgery is effective for symptomatic patients, and not indicated in the severely disabled.

Agenesis of the corpus callosum associated with spinal open neural tube defect

To ascertain the incidence and clinical implications of agenesis of the corpus callosum [ACC] in spinal open neural tube defects [SONTD]. All cases of SONTD registered at the Spina Bifida Clinic in King Khalid University Hospital, Riyadh, Saudi Arabia between 1995 and 2010 were retrospectively reviewed, and mid-sagittal MRI of the corpus callosum [CC] area was analyzed in each case. Neurodevelopmental outcome was classified as poor in children with seizures, severe neurodevelopmental impairment, or death. Thirty-eight patients [45.8%] with ACC were identified among 83 cases with SONTD. Patients' age ranged between one and 16 years. Total ACC was found in 10 patients, partial ACC in 25, and in 3 patients, the CC was hypoplastic. Active hydrocephalus was an associated finding in 9 out of 10 patients with total ACC, 22 out of 25 with partial ACC, and in all patients with hypoplasia of the CC. Thirteen patients [34.2%] had normal intellectual function, whereas 24 patients presented with learning disability, epilepsy, or poor intellectual function; and one patient died of respiratory failure. Agenesis of the corpus callosum is found in a significant portion of patients with SONTD. When associated with hydrocephalus, its presence affects neuro-developmental outcome.

Effect of small dose intravenous dexmedetomidine and/or local anaesthetic infiltration on haemodynamic responses to skull pin placement

Fixation of skull pins during craniotomy may cause acute haemodynamic changes. We evaluated, in this randomised double blind placebo controlled trial, the effects of small dose of dexmedetomidine [Dex] infusion in attenuating the haemodynamic profile during skull pin placement. Twenty-eight patients ASA I and II undergoing elective craniotomy were studied. Anaesthesia induced with sufentanil and sodium thiopentone [STP]. Cisatracurium was given to facilitate endotracheal intubation. Patients were randomly allocated to one of four groups [each 7 patients]: dex, lidocaine, dex-lidocaine and placebo [groups I, II, III, and IV respectively]. Groups I and III received intravenous Dex 0.25 meg/kg infusion and local infiltration with normal saline [NS] in group I and with 1% lidocaine in group III. Groups II and IV received intravenous NS and local infiltration at each pin insertion site with 1% lidocaine in group II and NS in group IV. The protocol started with intravenous medications to the assigned groups followed [after 8 min] with local infiltration of the scalp. Two minutes later [10 min after intravenous medication], scalp pinning was performed. Variables recorded were heart rate [HR], systolic blood pressure [SBP] and mean blood pressure [MBP] at different times. After opening the dura, brain status was assessed by the surgeon. Repeated measures of variance of HR, SBP, and MBP showed statistically significant interaction between group assignment and assigned time for groups I and III. In conclusion, our results showed that use of small doses of dex has resulted in obtunding the haemodynamic response to skull pin placement

Hematologic risk factors for stroke in Saudi children

To explore the hematologic risk factors for stroke in a cohort of Saudi children. We evaluated children at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. Investigations for suspected cases included neuroimaging, transcranial Doppler [TCD] for cases of sickle cell disease [SCO], and Duplex scan. Hemostatic assays included coagulation screening tests, tests of thrombin generation and fibrinolysis, coagulation inhibitors, and activated protein C resistance. During the study period, 104 Saudi children [aged one month to 12 years] with stroke were seen. The mean age of the cohort was 27.1 months [SD = 39.3 months] and median was 6 months. Ischemic strokes accounted for the majority of cases [76%]. A major risk factor was identified in 93 of 104 cases of stroke [89.4%]. Hematologic disorders were the most common [46.2%], followed by prothrombic disorders [31.7%]; microcytic hypochromic anemia [26%]; sickle cell disease [SCD], or SC beta-thalassemia, [11.5%], and factor IX deficiency [2.9%]. Raised anticardiolipin antibodies [13/49, 26.5%] was the most frequent abnormality. Deficiencies of the natural anticoagulants [protein S, protein C and antithrombin III] were as follows: protein S [15/70, 21.4%]; protein C [15/70, 21.4%] and combined deficiency of 2 or more inhibitors [9/70, 12.9%]. Activated protein C resistance has not been detected. Contrary to the findings of previous studies from Saudi Arabia, SCD is a common risk factor and is severe, as it resulted in multiple strokes. Moyamoya syndrome was diagnosed in 2 patients with SCD, one of whom had revascularization surgery [encephaloduroarteriosynangiosis]. Assessment of children with SCD at risk of stroke was helped by the introduction of TCD followed by neuroimaging, using MRI and magnetic resonance angiography. The study strongly highlights the importance of prothrombotic disorders and the severe phenotype of SCD as risk factors for stroke in Saudi children.

Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children

To explore the role of and report on congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology [DPN], or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital [KKUH], Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skull X-rays, CT, MRI, magnetic resonance angiography [MRA] and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 [6.7%]. The patients were evaluated at the DPN at a mean age of 66 months [range = 8 months to 11 years, median = 6 years]; and they had stroke at a mean age of 48 months [range = 2 months to 10 years, median = 8 months]. Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome [SWS], one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl [aged 9 years and 4 months] had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention [clipping of aneurysm]. The second child was an 8-month-old boy who presented with subarachnoid and intraventricular hemorrhage [IVH] following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation [AVM] caused IVH in a 7-year-old boy who reported to hospital 5 hours after onset of headache, vomiting, drowsiness, and dizziness. Following drainage of the IVH and stabilization of the patient, the AVM was successfully embolized 6 weeks later. As a group, congenital and genetic cerebrovascular anomalies constitute a significant risk factor for stroke in Saudi children. Recognition of these diseases is important since some are treatable and because other family members may be at risk.

Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations

To report on moyamoya syndrome [MMS] as a risk factor for stroke in a prospective and retrospective cohort of Saudi children. The usual and novel associations of MMS in this cohort will also be described. Children with stroke were evaluated at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. Investigations for suspected cases included hemostatic assays, biochemical, and serological tests. Neuroimaging included CT, MRI, magnetic resonance angiography [MRA], single photon computerized tomography [SPECT] brain scan and conventional cerebral angiography. Moyamoya syndrome was the underlying risk factor for stroke in 6 [5.8%] of the 104 children [aged one month to 12 years]. They were 4 females and 2 males. Their first cerebral ischemic event occurred at a mean age of 45 months [median = 44 months, range 17-66 months]. In all 6 cases, MMS was associated with an underlying hematologic abnormality or other diseases. Protein C deficiency was identified in one girl and protein S deficiency in another. Two patients had respectively, sickle cell disease [SCD] and sickle cell-B-thalassemia [S beta-thalassemia], which had been associated in the latter with membranous ventricular septal defect. Adams-Oliver syndrome [AOS, OMIM 100300] was associated with MMS in an 18-month-old girl. A 4-year-old boy had wrinkly skin syndrome [WSS, OMIM 278250] phenotype. The association of MMS and protein C deficiency was first reported in this cohort of patients, whereas the association of the syndrome with WWS and AOS has not, hitherto, been described. The 3 patients who had MMS associated with protein C deficiency, SCD, and AOS underwent successful revascularization surgery in the form of encephaloduroarteriosynangiosis. Moyamoya syndrome constitutes an important risk factor of stroke in Saudi children. Comprehensive clinical evaluation and investigations, including screening for thrombophilia and neuroimaging studies, are required for the primary diagnosis of the disease and for unraveling other diseases associated with MMS. This will help in managing these patients and in guiding genetic counseling for their families.