Van der Knaap disease: a case report

Van der Knaap disease or megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare autosomal recessive degenerative disorder characterized by megalocephaly, cerebral leukoencephalopathy, and motor deterioration. Most cases reported with this disease are from our country India, belong to Agarwal community, who have high rates of consanguinity. We report a 4 and 1/2year old boy, with a history of delayed motor milestones, ataxia, increasing head circumference and abnormal body movements, who is belonging to the Bhat family of Handwara town of Kupwara district of Jammu and Kashmir, India.

Prevalence of vitamin D deficiency among doctors in a tertiary care centre in north India

Background: Vitamin D is unique among vitamins as it can be synthesized from the action of ultra-violet radiation (UVR) upon the skin of human beings. This study was done to investigate the prevalence of vitamin D deficiency among health care professionals.Methods: This was institution based study conducted over a period of two years at Govt. Medical College Hospital. The study was conducted on 200 healthy doctors working in different departments of Govt. Medical College and Associated Hospitals, Jammu for a period of two years. Data regarding demographic characteristics, lifestyle assessment, exposure to sunshine on workdays and weekends, type of clothing, use of sunscreen, subjective general health, dietary assessment and use of calcium or vitamin D supplements was collected using a structured questionnaire.Results: Mean value of age of study subjects was 26.18±2.09 years. Results showed that 50% were male and 50% were females. In this study, 65.50% of the study subjects were Hindu and 30% of study subjects were Muslim. Majority of the study subjects had exposure to sunlight for less than 20 minutes and only 10 out of 200 study subjects had exposure to sunlight for more than 30 minutes. In this study, 97% of the study subjects were vitamin D deficient and only 3% were vitamin D sufficient. Among 196 study subjects with vitamin D deficiency, severe deficiency was present in 30.41% (59 out of 194) of study subjects, moderate deficiency was present in 60.82% (118 out of 194) of study subjects and very few study subjects had mild vitamin D deficiency.Conclusions: Vitamin D deficiency is highly prevalent among healthy medical college students. Lack of awareness regarding importance of vitamin D requirement, inadequate exposure to sunlight, changes in lifestyle and food habits contribute to low vitamin D levels in young population.

Management and pattern of pellet gun injuries in war conflicted Kashmir Valley, India

AbstractBackground: The pellet gun is a shot gun weapon which is used by law enforcement agencies to maintain law and order in conflict zones whenever need arises. Sometimes these minute sized pellets may lead to grave injuries to vital structures of the body which may sometimes led to permanent disability. The objective of this study was to investigations and manages these fatal injuries in war conflicted valley. Methods: The prospective study conducted in a tertiary care hospital of Government Medical College Srinagar at the time of civilian unrest in 2016 and onwards when thousands of people were injured with pellets by security agencies. Results: Maximum number (67.1%) of patients had injuries to eyes and face, among the total number of patients 69 (17.2%) of patients had abdominal injuries. CECT abdomen showed pellets in all 69 (100%) of patients, pellets in gut lumen in 48 (69.5%) of patients. In the abdominal group 40 patients underwent laparotomy which showed hemoperitoneum in 49 (71.01%), pneumoperitoneum in 6 (8.69%) of patients. Conclusion: Pellet gun weapon has become a common arsenal to suppress the unarmed civilian agitation which may lead to fatal injuries to vital structures of body, where prognosis remained poor despite of best available treatment.

Role of colonoscopy in haemorrhoids with other colorectal disorders

Background: Haemorrhoids are the enlargement or engorgement of the normal fibrovascular anal cushions. These fibrovascular cushions lose their attachment to the underlying rectal wall and lead to prolapse with repeated straining over time, thinning of rectal mucosa and subsequent bleeding. The objective of the present endeavour was to study the prevalence of associated colorectal lesions like colonic carcinoma, diverticular disease, inflammatory bowel disease which present the rectal bleeding and role of colonoscopy in these lesionsMethods: This study was conducted in hundred fifty patients presenting with bleeding and haemorrhoids were analyzed. All patients were examined locally and endoscopically. All significant endoscopic findings (diverticuli, polyps, cancer, angiodysplasia and varices or colitis) were recorded.Results: Majority of patients were males (102), accounting for (68 percent). The main symptom at the time of presentation was rectal bleeding (90 percent). The digital rectal examination was normal in 114 patients. The commonest finding on proctoscopy examination was haemorrhoids. Colonoscopy showed haemorrhoids in maximum patients (147 percent). The associate lesions with altered bowel habits were growth in 12, worm in 6, solitary rectal ulcer in 3, pancolitis in 3.Conclusions: It can be concluded that in the present study colonoscopy revealed a high proportion of colorectal pathologies with haemorrhoids presenting with bleeding per rectum.  Colonoscopy thus proved to be very useful procedure in patients with haemorrhoids especially in elderly.

Prospective study of colposcopic screening of unhealthy cervix

Background: The study was conducted to screen women who have abnormal vaginal discharge with Pap smear to do histopathological analysis of colposcopically directed biopsies.Methods: A prospective analytical study carried out in the department of obstetrics and gynaecology. The patients were randomly selected who fulfilled the selection criteria and was carried out to study the correlation of Pap smear and colposcopy in women with unhealthy cervix.   Results: Among all patients 13% were between 20-29 years, 38% were between 30- 39%, 31% belonging to 40-49 years group and 18% was between 50-59%.  Among 100 Women studied, 33% were illiterates, 55% had primary/high school education and 12% had Higher education Majority of the patients (68.7%) of CIN occurred in the age group of 30-49years, 41.7% with CIN were paragrvida 2, 43.8% with CIN were paragravida 3 and 18.6% were greater than paragravida 4 showing high incidence of CIN in multiparity.The incidence of CIN was found to be high among the lower income group 87.5%.The major presenting complains in the study patients were white discharge per vagina.Conclusions: Colposcopy was found to be useful in understanding the morphology of the cervical lesion, both of the neoplastic and nonneoplastic ones and was very helpful in planning their management. Cytology is an accepted method for screening for cervical cancer and the value of colposcopy has been recognized. Hence it may be better to utilize cervical cytology smear with colposcopy should be offered as a diagnostic method in all patients with unhealthy cervix.

Gelastic seizures in a young boy: Evaluation by magnetic resonance imaging

To present an interesting case of gelastic seizures in a child who had an underlying brain lesion. Clinical Presentation and Intervention: A 10-year-old boy presented with recurrent episodes of uncontrollable laughter since the age of 6 years. Computed tomography showed a well-defined mass in the region of suprasellar and interpeduncular cisterns. Magnetic resonance imaging revealed a lesion, most likely a hamartoma, arising from the region of tuber cinerium. The lesion was subsequently resected and a marked improvement in the frequency and intensity of seizures was noted. This report shows that neuroimaging should be performed on patients with gelastic seizures to exclude any underlying structural lesion of causal significance

Otogenic brain abscess; an audit of twenty one consecutive cases

Otogenic brain abscesses imply accumulation of pus in the brain originating from inflammatory process in the middle ear cavity. The aim of the study was to investigate mechanisms of development, diagnostic methods and treatment of otogenic brain abscesses. Twenty one patients suffering from otogenic brain abscesses. Setting: Nishtar Hospital Multan in the department of Otorhinolaryngology and Neurosurgery. Period: From June 1996 to December 1999. Patients and Detailed history and physical examination were followed by CT scan with contrast enhancement. Burr hole aspiration, craniectomy and craniotomy are the procedures employed according to individual needs. After aspiration, the pus was subjected to microscopy for AFB and culture and sensitivity. Histopathology of the abscess was performed whenever available. Sixteen of the twenty one patients were males and five females. Mean age at presentation was 20.7 years [ranging from 7 to 60]. Headache [100%], vomiting 100% and ear discharge 100% were the commonest symptoms while fever 95%, drowsiness 48% and papilloedema 29% were the commonest signs. Temporal lobe abscesses were diagnosed in thirteen 62% and an abscess in posterior fossa was present in eight patients 38%. Aspiration of pus through a brain cannula after making a burr hole was tried in all the patients but eight patients underwent craniotomy/craniectomy for excision of abscess wall after repeated aspirations failed to lead to complete resolution on follow up scans. Bacteriology was positive in twelve of twenty one [57%] patients. Staph aureus was detected in three [14%], E coli in three [14%], pseudomonas in two [9.5%], streptococci in two [9.5%], B. Proteus in one patient [5%] and aspergillus fumigatus in one [5%] patient. After improvement in their clinical status, seventeen patients were referred to the department of ENT for mastoidectomy. One patient suffering from cerebellar abscess died on third post operative day and one with a temporal extradural abscess did not improve after repeated aspirations and died within thirty days of operation. Both of these patients were comatosed [GCS below 7] at the time of admission. The mortality in this study was 9.5%. Level of consciousness at the time of admission was the most significant actor affecting the outcome. ConclusionS: Advances in the microbial isolation methods, specificity of antimicrobial agents and earlier diagnosis by CT scan have contributed to an improved outcome for this dreaded disease