Congenital Mediastinal Neuroenteric Cyst as a cause of respiratory distress since birth.

Mediastinal Neuroenteric Cyst is a rare congenital presentation in infants and is associated with a high mortality rate. It is a very uncommon benign lesion and usually develops from abnormal embryological development of the foregut. Till now, only 106 cases have been reported worldwide. In Pakistan only three cases have been published, with varying presentations. The clinical presentation and age at presentation vary from asymptomatic and coincidental finding on chest x-ray, to limb numbness or early presentation with severe symptoms like those in our case. In fact, it poses an important challenge for paediatricians. We present a rare case with emphasis on clinical presentation and diagnostic criteria.

Hemophagocytic Lymphohistiocytosis in a Pediatric Patient.

Hemophagocytic Lymphohistiocytosis (HLH) is an uncommon but a potentially fatal disease characterised by high grade fever, hepato-splenomegaly, deranged liver functions, cytopenias and multi-organ involvement. HLH has its own diagnostic criteria, which comprise of various clinical and laboratory features, which were revised in 2004 by HLH Society for prompt identification and recognition. Here, we present a case of 9-year developmentally normal female with all the complaints as mentioned above, who received treatment for almost eight months as a case of pyrexia of unknown origin (PUO) without a definitive diagnosis. The differential diagnosis of HLH was considered in the patient and later, it was corroborated by hemophagocytic activity on bone marrow aspiration examination. The diagnosis of HLH was made after fulfillment of its criteria which was addressed completely and found veracious. After addressing the active complaints of the patient, she was referred to a pediatric oncologist for chemotherapy and further management; and counselled for hematopoietic stem cell transplantation (HSCT). Key Words: Hemophagocytic lymphohistiocytosis, Pyrexia of unknown origin (PUO), Pediatric hematopoietic stem cell transplantation.

Importance Of Clinical Risk Index For Babies Score For Predicting Mortality Among Neonates.

BACKGROUND: High mortality among premature and very low birth weight (VLBW) babies necessitates the need to formulate and use scoring systems like CRIB score to predict the mortality in this vulnerable group. Objective of the study was to determine the strength of Clinical Risk Index For Babies (CRIB) score in detecting neonatal mortality in babies presenting with very low birth weight so that timely intervention can be done. It was a cross-sectional study, conducted at NICU, Children Hospital, Pakistan Institute of Medical Sciences Islamabad (PIMS) in nine months starting from First July 2017. METHODS: A total of two hundred and fifty-four (n=254) new-borns with birth weight of between 500-1500 grams and gestational age lesser than 35 weeks were included in the study. CRIB score was calculated in all neonates and its association was assessed with mortality during NICU stay. Recorded data was analysed for demographic variables. Means and standard deviation was calculated for numeric variables. Chi-square test was applied to find p-value for the correlation between the main variables. RESULTS: 54.3% (n=138) patients were males and 45.7% (n=116) were females. Mean gestational age was 33.3 weeks±1.04 SD and mean birth weight of study population was 1129.9 grams±210.6 SD. Mean CRIB score among the study population was 6.3±3.1SD and overall mortality was found to be 54.7% (n=139). Mean CRIB score was found to be 8.27±2.1 SD among mortality group and it was 3.87±3.4 SD among newborns who were discharged (p<0.05). Mortality was present in 4.3% (n=4) of neonates with CRIB score between 1 to 5, 87.1% (n=121) who had CRIB score between 6 to 10 and 100% (n=14) of neonates who had CRIB score level 11-15 (p<0.05), so a significantly higher percentage mortality was noted among neonates with higher CRIB scores. CONCLUSIONS: According to our study mean CRIB score is a significant predictor of neonatal mortality.

A Rare Case Of Berardinelli Seip Syndrome.

Berardinelli Seip Syndrome is a rare disorder associated with loss of adipose tissue leading to a myriad of findings owing to derangements of carbohydrate and lipid metabolism. There is no cure and the management comprising low fat diet, metformin and leptin replacement is aimed at preventing complications. We report this syndrome in a male child from Afghanistan.

Comparison Of Positivity Of Tuberculin Skin Test With Diagnostic Bcg In Children Suffering From Tuberculosis.

BACKGROUND: Tuberculosis is major public health problem in Pakistan and it is often unrecognized cause of morbidity and mortality in children living in endemic areas. Children with age less than 5 years, and especially those who are immune compromised, are at higher risk of developing tuberculosis following exposure. Tuberculosis in children is usually difficult to diagnose compare to adult patients due to its atypical presentation. Tuberculin skin test and Bacille Calmette-Guerin (BCG) are widely used as diagnostic tests for tuberculosis. It was a Cross sectional study carried out from May 2017 to Nov 2018 in the department of Paediatrics, Ayub Teaching Hospital Abbottabad.. METHODS: Both BCG and tuberculin skin test were performed at the same time by the same doctor. Personal data like age, gender and address, type of tuberculosis, positivity of tuberculin skin test and positivity of diagnostic BCG were recorded. The induration was read 48- 72 hours after administration. RESULTS: As per frequencies and percentages for positivity of tuberculin skin, 51 (67.10%) patients showed positivity for tuberculin skin while 71 (93.42%) patients showed positive results via BCG Test. CONCLUSIONS: In paediatric age group, diagnostic BCG test has got better diagnostic value over Tuberculin Skin Test in diagnosis of tuberculosis.

Iatrogenic Cushing Syndrome And Hypertension In An Infant Girl Due To Use Of Nappy Rash Cream Containing A Potent Topical Steroid.

Eleven months old female patient presented to paediatric out patient with parents concerned about her facial swelling. Upon examination child's weight and height for age were normal on her percentiles, she had a cushingoid facies with plethoric cheeks (Figure-1,2) though generalized oedema was absent and there was centripetal obesity with some muscle wasting (Figure-3,4). Systemic examination was normal excluding blood pressure which was high for her age. Electrolytes and cortisol levels were normal. On further inquiry it was revealed that she had been using a nappy rash cream containing a potent steroid, i.e., fluticasone for 2 months and this was identified as a cause for her cushingoid features.

Association Between Low Serum Magnesium Level And Type 2 Diabetes Mellitus In Abbottabad.

BACKGROUND: Magnesium serves as a cofactor for various oxidation reactions in the body and helps in glucose transport across cell membrane. Deficiency of magnesium is a common electrolyte abnormality in type 2 diabetic patients and is linked to development of various diabetic complications. This study was conducted to determine the association between low serum magnesium level and type 2 diabetes mellitus presenting at Medical B ward, BBS Hospital Abbottabad. METHODS: This descriptive study was conducted over a period of 6 months starting July 1, 2017. One hundred & eighty diagnosed diabetic patients aged at least 40 years, were included in the study. Their serum magnesium level was checked after withdrawing blood under strict aseptic conditions. Fasting & random blood glucose and the level of glycosylated haemoglobin were measured and age, gender, duration of illness were recorded on a proforma. RESULTS: Sixty-one patients (33.89%) had hypomagnesemia. There was no significant association between hypomagnesemia and age and sex of patients (p>0.05). However, hypomagnesemia was found to be significantly associated with the duration of diabetes mellitus among study population (p=0.02). CONCLUSIONS: Hypomagnesemia is frequently present in patients with diabetes mellitus and it appears that its prevalence increases with the duration of diabetes mellitus.

Pattern Of Presentation Among Adults Hospitalized With Dengue Disease.

BACKGROUND: Dengue is a mosquito born viral infection that has rapidly spread in the world particularly in Southeast Asia. The aim of this hospital based study was to see the demographic, clinical and laboratory characteristics in adults with dengue infection in Hazara region of Northern Pakistan. METHODS: This is a descriptive study. Clinical, laboratory and demographic information were collected from adult patients with suspected dengue infection (n=100) and then managed in one of medical units of tertiary care hospital in Abbottabad from August to October 2015. RESULTS: Total number of patients was 100, 78 were male and 22 were female. 49 patients were in age group from 21 to 40 years. Most patients were from Mansehra district (69), followed by Haripur (11), Abbottabad (11), Battagram (06) and Kohistan (03). Common clinical features were fever (100%), body aches (95%), headache (94%), chills (87%), and anorexia (86%), haemorrhagic tendencies (12%), rash (05%), and sore throat (03%). Thrombocytopenia was observed in 98%, leucopoenia in 25%, high Aminotransferases (ALT) in 67%, Ns1 antigen positive 66%, negative 18% and unknown 16%. IgM Antibodies against Dengue Virus was positive 67%, negative 19% and were unknown in 14%, IgG antibodies positive in 54%, negative 32% and were unknown in 14%. CONCLUSIONS: We concluded in our study that presentation of dengue infection is same as in other Southeast Asian countries; however, the disease is more prevalent in cities located on plain than hilly areas.

Malignant Infantile Osteopetrosis.

Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis .The recessive form of ostreopetrosis, i.e., malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of marrow space. Signs/symptoms of MIOP appear as early as neonatal age. As there is defect in bone marrow children present with deficiency of red blood cells, white blood cells and platelets. There is extramedullary haemopoiesis, cranial nerve compressions and severe growth failure. The condition also presents with early and late onset neonatal sepsis and is often lethal in the first decade of life due to secondary infections. Treatment is mainly supportive. The only curative treatment is stem cell transplantation. This is a case report of a new-born who was admitted in nursery of Ayub Teaching Hospital initially with complains of neonatal jaundice and sepsis , and a second time with lower respiratory tract infection. Death was eventually due to sepsis. Workup led to diagnosis of Malignant infantile osteopetrosis.

Association Of Tricuspid Regurgitation And Severity Of Mitral Stenosis In Patients With Rheumatic Heart Disease.

BACKGROUND: Rheumatic heart disease is a common ailment in Pakistan and Mitral stenosis is its flag bearer Severity of mitral stenosis is the key factor in deciding for mitral valve surgery. METHODS: This case series study was conducted at Ayub Teaching Hospital .Cases of Rheumatic heart disease with mitral stenosis were diagnosed clinically. 2D echocardiography was used to find severity of mitral stenosis. Data was entered into SPSS-17.0 and results were recorded and analysed. Pearson's two tailed correlation was used to find the correlation between presence of tricuspid regurgitation in patients with severe mitral stenosis, p was <0.05. RESULTS: A total 35 patients with pure mitral stenosis were included in study, out of which 8 were male and 27 were females. Mean age in males was 34.5±15.85 years while in females it was 31±8 years. Twenty-two out of 35 (62.86%) patients had tricuspid regurgitation while 13 out 35 (37.14%) had no tricuspid regurgitation. Mean (MVA) mitral valve area in patients with tricuspid regurgitation was 0.84±0.3 cm2 while mean (MVA) mitral valve area in patients without tricuspid regurgitation was 1.83±0.7 cm2. Mean left atrial (L.A) size was 45.23±1.5 mm2 in patients with tricuspid regurgitation, while it was 44.13±6.14 mm2 in patients without tricuspid regurgitation. Mean RSVP was 57.5mmHg in patients with tricuspid regurgitation while RSVP could not be calculated in patients without tricuspid regurgitation. CONCLUSIONS: It was concluded that tricuspid regurgitation was strongly associated with severe mitral stenosis as almost all patients with severe mitral stenosis had tricuspid regurgitation and none of the patients with mild mitral stenosis had tricuspid regurgitation.

Correlation between glycated haemoglobin levels and random blood glucose.

BACKGROUND: Glycated haemoglobin or glycosylated haemoglobin (HbA1c) is a form of haemoglobin that is measured primarily to identify the average plasma glucose concentration over prolonged periods of time. Levels of HbA1c represent the average blood glucose levels of diabetic patients over the previous 120 days. The objective of this study was to see the correlation between HbA1c levels and random glucose levels. METHODS: This descriptive study included 106 randomly selected patients with known diabetes from the outpatients department. Random sugar levels were measured by using venous blood samples. HbA1c levels were measured in venous blood by BIO-RAD D-10 HPLC Method. Data were recorded on a proforma. Pearson's correlation was applied to find out any significant correlation between the glycated haemoglobin levels and the random blood glucose levels. Results were plotted onl simple scatter plot and p < 0.01 was considered significant. CONCLUSIONS: A significant linear positive correlation exists between levels of HbA1c and random blood sugar.

Causative bacteria and antibiotic resistance in neonatal sepsis.

BACKGROUND: Neonatal sepsis is characterised by bacteraemia and clinical symptoms caused by microorganisms and their toxic products. Gram negative bacteria are the commonest causes of neonatal Sepsis. The resistance to the commonly used antibiotics is alarmingly high. The major reason for emerging resistance against antibiotics is that doctors often do not take blood cultures before starting antibiotics. We have carried out this study to find out various bacteria causing neonatal sepsis and their susceptibility to antibiotics for better management of neonatal sepsis. METHODS: A total of 130 neonates with sepsis who were found to be blood culture positive were taken in this study. Culture/sensitivity was done, isolated organisms identified and their sensitivity/resistance was noted against different antibiotics. Data were arranged in terms of frequencies and percentage. RESULTS: Out of 130 culture proven cases of neonatal sepsis, gram negative bacteria were found in 71 (54.6%) cases and gram positive bacteria in 59 (45.4%) cases. Staphylococcus aureus was the most common bacteria found in 35 (26.9%) cases followed by Escherichia coli in 30 (23.1%) cases. Acinetobacter species, Staphylococcus epidermidis, Klebseila, Streptococci, Enterobacter cloacae and Morexella species were found in 17 (13.1%), 17 (13.1%), 13 (10%), 7 (5.4%), 6 (4.6%), and 5 (3.8%) cases respectively. In most of the cases causative organisms were found to be resistant to commonly used antibiotics like ampicillin, amoxicillin, cefotaxime, and ceftriaxone (77.7%, 81.5%, 63.1%, and 66.9% respectively). There was comparatively less (56.9%) resistance to ceftazidime. Gentamicin had resistance in 55.1% cases, while amikacin and tobramycin had relatively less resistance (17.4% and 34.8% cases respectively). Quinolones and imipenem had relatively less resistance. Vancomycin was found to be effective in 100% cases of Staphylococcus group. CONCLUSION: Staphylococcus aureus are the most common gram positive bacteria and Escherichia coli are the most common gram negative bacteria causing neonatal sepsis. Resistance to commonly used antibiotics is alarmingly increasing. Continued surveillance is mandatory to assess the resistance pattern at a certain level.

Frequencies of congenital anomalies among newborns admitted in nursery of Ayub Teaching Hospital Abbottabad, Pakistan.

BACKGROUND: Congenital anomalies play a significant role in perinatal and neonatal morbidity and mortality. The frequency of these congenital anomalies varies in different populations. Objective of this study was to find out the frequencies of congenital anomalies admitted in nursery of Ayub Teaching Hospital, Abbottabad. METHODS: In this descriptive, cross-sectional study all patients admitted in NICU from October 2009 to January 2010 were included. The patients were examined for major and minor congenital anomalies. The observations were recorded in tabulated form. RESULTS: A total of 2,360 patients were admitted in NICU during the study period. One hundred patients were noted to have congenital anomalies. The most frequent anomalies involved the central nervous system (31%). Meningomyelocele was the commonest defect (71%, 22 out of 31 cases of CNS defects), among these males were more (77%, 17 out of 22 of meningomyelocele cases) than females (14 out of 31). These were followed by patients born with congenital heart defects (16%). Patients with urogenital anomalies (6%) were all male except for one who had ambiguous genitalia. CONCLUSIONS: Cases of meningomyelocele were the commonest presenting congenital anomaly. More stress should be laid on the role of peri-conceptional vitamin supplementation like folic acid for the primary prevention of congenital defects.

Effect of body mass index on serum leptin levels.

BACKGROUND: Leptin is product of ob gene, an adipose tissue derived hormone that plays a key role in the regulation of body fat mass by regulating appetite and metabolism while balancing energy intake and energy expenditure. The objective of the study was to evaluate possible association between serum Leptin levels and Body Mass Index (BMI) of gender in adult age group. METHODS: Two-hundred-seventy subjects aged 20-50 years were randomly selected from general population of Abbottabad. After complete evaluation, demographic data was recorded and BMI calculated. The subjects were grouped on the basis on BMI. Non-fasting venous blood samples were drawn to measure serum Leptin and serum glucose levels. The data were analysed using SPSS-15. RESULTS: Serum Leptin levels and differences between genders were significant in all body mass indices. For normal BMI group the mean values for leptin were 2.6 +/- 1.5 etag/ml in men, and 17.3 +/- 10.2 etag/ml in women. For Group-2 mean leptin levels were 9.9 +/- 6.8 etag/ml in men, and 34.8 +/- 13.6 etag/ml in women. For Group-3 BMI comprising obese subjects mean values were 21.3 +/- 14.2 etag/ml in men, and 48.21 +/- 21.2 etag/ml in women (p<0.001). CONCLUSION: A progressive increase in serum leptin concentration was observed with an increase in BMI. Significant difference between leptin concentrations in either gender was found in normal, overweight and obese subjects.

Frequency of diabetic retinopathy in patients after ten years of diagnosis of type 2 diabetes mellitus.

BACKGROUND: Diabetic retinopathy is one of the most common and serious complications of type 2 diabetes mellitus and a leading cause of blindness not only in Pakistan but also worldwide. So we conducted this study to record the frequency of diabetic retinopathy in known diabetic patients ten years after diagnosis of type 2 diabetes mellitus. METHODS: The study was conducted at Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan for a period of 1 year from January 2008 to January 2010. The study group comprised of 200 patients of type 2 diabetes mellitus attending the medical clinic. All patients who were diagnosed as type 2 diabetes mellitus since ten years duration were included in the study. Retinopathy was graded into background, pre proliferative and proliferative retinopathy. Type 2 diabetes was diagnosed using the WHO criteria. Statistical analysis was carried out using the SPSS-11. RESULTS: Diabetic retinopathy was found in 25.5% of the total Type 2 patients after ten years of diagnosis, and of these 4% of patients had proliferative retinopathy. CONCLUSION: Type 2 diabetic patients should be screened as early as possible to prevent permanent visual loss by timely management of diabetic retinopathy because diabetes is one of most common preventable cause of blindness in the world.