BackgroundCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroid 21 hydroxylase gene (CYP21A2). We studied the spectrum of mutations in CYP21A2 gene in a multi-ethnic population in Pakistan to explore the genetics of CAH.MethodsA cross sectional study was conducted for the identification of mutations CYP21A2 and their phenotypic associations in CAH using ARMS-PCR assay.ResultsOverall, 29 patients were analyzed for nine different mutations. The group consisted of two major forms of CAH including 17 salt wasters and 12 simple virilizers. There were 14 phenotypic males and 15 females representing all the major ethnic groups of Pakistan. Parental consanguinity was reported in 65% cases and was equally distributed in the major ethnic groups. Among 58 chromosomes analyzed, mutations were identified in 45 (78.6%) chromosomes. The most frequent mutation was I2 splice (27%) followed by Ile173Asn (26%), Arg 357 Trp (19%), Gln319stop, 16% and Leu308InsT (12%), whereas Val282Leu was not observed in this study. Homozygosity was seen in 44% and heterozygosity in 34% cases. I2 splice mutation was found to be associated with SW in the homozygous. The Ile173Asn mutation was identified in both SW and SV forms. Moreover, Arg357Trp manifested SW in compound heterozygous state.ConclusionOur study showed that CAH exists in our population with ethnic difference in the prevalence of mutations examined.

Objective: The aim of this study is to compare the outcomes of endoscopic third ventriculostomy versus ventriculoperitoneal shunt in Obstructive Hydrocephalus. Study Design: Randomized/Control study Place and Duration: Neurosurgery Department, Mardan Medical Complex, Mardan for the duration 04 years from April 2017 to April 2021. Methods: Sixty individuals of both sexes were brought in for consultation. Involved individuals had hydrocephalus that blocked their airways. The written consent of every patient allowed the collection of comprehensive demographic data, including age, gender, and body mass index (BMI). CT and MRI scans were performed on patients. Two groups of patients were formed, and the patients were split evenly between the two. An endoscopic third ventriculostomy was performed on group I, whereas ventriculoperitoneal shunt was implanted in group II patients. Efficacy and complications of therapy were evaluated at six-month intervals. All collected data were analyzed by using the SPSS 24.0 edition. Results: There was no any significant difference of age among both groups. Majority of the patients among both groups were males. Mean hospital stay in group I was lower 3.4± 6.45 days as compared to group II 8.1±1.35 days. Success rate in group I was higher 25 (83.3%) as compared to group II 20 (66.7%). Complications in group II was higher among 10 (33.3%) cases as compared to group I 5 (16.7%) in which CSF leak was the most common. Recurrence rate in group I was 4 (13.3%) and in group II was 6 (20%). Conclusion: In this research, we found that the endoscopic third ventriculostomy is an effective and safe procedure for treating patients with obstructive hydrocephalus as compared to ventriculoperitoneal shunt because of its low complication rate and decreased recurrence rate. Keywords: Ventriculoperitoneal Shunt, Obstructive Hydrocephalus, Endoscopic Third Ventriculostomy, Complications, Recurrence

Objective: To determine the outcomes of surgical management in patients presented with depressed skull fractures. Study Design:Prospective Study Place and Duration of Study: Conducted at Neurosurgery department of Mardan Medical Complex/ Bacha Khan Medical College, Mardan during the period from 16th January 2019 to 15thJanuary 2020. Methodology: 65patients of both genders with ages were 10 to 60 year were included in this study. Patients were aged between 12-70 years of age. After taking informed written consent from all patient’s/parent/guardians, detailed demographics age, gender,body mass index cause of fracture, type of fracture and site of fracture wererecorded. CT scan was performed on all patients.Depressed fracture of more than 5 mm, cosmetically disfiguring fractures and fracture over the sinuses were operated. Patients were held under examination for 12-weeks.Glasgow Coma Scale (GCS) was used for final outcome. Data was analyzed by SPSS 27.0. Results:Out of all the patients, male patients were 45(69.23%) and female patients were 20 (30.76%). 35(53.85%) with ages <30, 20(30.76%) with ages 30 to 50 and 10(15.38%) with ages >50 were reordered in study. Mean body mass index was 20.04±3.14 kg/m2.The most common cause of the injury was road traffic accident 45(69.23%) followed by fall from the height 20 (30.76%). 40(61.53%)were compound fracture and 25 (38.46%) were closed fracture. 55 (87.5%) cases were treated surgically and 10 (12.5%) patients were treated conservatively. 45(69.23%) patients were completely recovered, 10 (12.5%) were moderately disabled and 7(10.77%) were severely disabled and 3(4.61%) were died. Conclusion:If treated promptly most of the cases of compound depress skull fracture revealed good results but outcomes of the depress skull fracture revealed contingent severity of injury and absence or presence of intracranial lesion. Key words: Depressed skull fracture, Non-missile injuries, Compund skull fracture, conservative management

Aim: To find out predictive significance and impact on neurosurgical treatment in EDH patients Setting & duration of study: Neurosurgery unit, Mardan Medical Complex, Mardan, from Dec, 2017 to Dec, 2019 Sample size: 120 individuals with traumatic epidural hematoma were treated through surgical intervention. Result: Out of 120 cases, 74% were male, while 26% were female. Motor vehicle accidents caused 86% of the injuries, while falls and heavy hits caused 14% of the injuries. On well defined tomography imaging of the brain, 14% individuals exhibited the swirl sign. The epidural hematoma had a strong association with preoperative Glasgow score, preoperative mydriasis, time from injury to CT scan, and intraoperative hematoma volume. Conclusion: Epidural hematoma has an excellent outcome, if managed on time. The epidural hematoma may be linked with a cataclysmic result, with comparatively high rates of mortality and morbidity. Keywords: Epidural hematoma, Glasgow Outcome Scale

Background: Post spinal surgery syndrome (PSSS) is characterized by chronic discomforts post one or more spine operations. Despite advancements in surgical technology, failure rate of back operations has not decreased. These conditions may occur preoperatively, intraoperatively, and postoperatively. Objectives: The primary purpose of this investigation was to ascertain the incidence and causes of neurological complications in patients who have undergone spinal surgery and subsequently developed PSSS. Methods: Cross sectional research was performed at Mardan Medical Complex, Mardan, comprising 82 patients (50 males and 32 females). X-ray studies, MRI, and electromyography was the tool for initial lumbar surgery to confirm the initial diagnosis. Participants were requested to submit the questionnaire and then, their scores were calculated and analyzed as per standard protocols. Results: The potential causes of PSSS, indicated 16 (19.5%) patients with incorrect diagnosis, 24 (29.3%) of the due to surgical technical errors, 10 (12.2%) due to improper pre-operative patient selection and 20 (24.4%) as a result of recurrent disc herniation after surgery. The frequency of cases of complications was spinal fusion (64.09%), followed by kinesiophobia (47.38%), laminectomy (45.98%), depression (40.3%), numbness in lower limbs (36.9%), myelopathy (14.5%) and other neurological deficits (12.56%).