Fibrodysplasia ossificans progressiva

Fibrodysplasia Ossificans Progressiva [FOP] is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of connective tissue and congenital malformation of big toes. We report a 3-year male toddler with clinical and radiological features of FOP. He was born with bilateral hallux valgus and at the age of 3 years presented with hard swellings over back, scapular region and forehead that were initially inflammatory and then became bony hard. There is also tilting of neck towards the left due to calcification in neck region. The radiographs showed heterotopic ossification in thoracic region, neck, spine and region of hip joint

Juvenile rheumatoid arthritis

To determine the spectrum of clinical presentation, laboratory parameters and drug therapy in patients with Juvenile Rheumatoid Arthritis [JRA]. Case series. The Children's Hospital and The Institute of Child Health, Lahore, from October 2008 to October 2011. All patients who fulfilled the American College of Rheumatology criteria for JRA were enrolled. Their clinical features, investigations done and treatment received for JRA were noted. Statistical analysis of data was done on SPSS version 16.0 for obtaining descriptive statistics. Out of 185 patients, 50.3% [n = 93] were females; 54% [n = 100] were between 10 - 15 years of age. Polyarthritis was found in 71.9% [n = 133] followed by oligoarthritis [22.7%, n = 42] and systemic onset disease [5.4%, n = 10]. Morning stiffness [78%] and fever [68%] were the most common clinical presentations. All patients with systemic onset disease had fever [n = 10] followed by skin rash, hepatosplenomegaly and lymphadenopathy. Uveitis was found in 2 patients, and both belonged to the oligoarticular group. Rheumatoid factor was found in 10.27% [n = 19] of all patients. All patients were given non-steroidal anti-inflammatory drugs [NSAIDs]. Disease modifying agents [methotrexate] were given to 43.8% [n = 81]. Steroids were used in 61% [n = 113] of patients either with NSAIDs alone or NSAIDs plus methotrexate. Disease profile of JRA at the study centre showed that polyarthritis is the commonest type. Recognition of subtypes will help in planning the management of these patients

Ventilator-associated pneumonia in children

To determine the frequency of Ventilator-Associated Pneumonia [VAP] and to identify the associated factors, causative organisms and outcome of VAP in children admitted to ICU. Cross-sectional, observational study. Medical ICU [MICU] of the Children/'s Hospital and Institute of Child Health, Lahore, from August 2008 to March 2009. All children admitted to MICU and requiring ventilation during the study period were included and monitored for any features suggestive of VAP. Partial septic screen was done in all suspected cases. VAP was labelled when any patient on the ventilator for more than 48 hours had at least 2 of the following features of nosocomial infection - fever > 101'F, TLC < 4000 or > 15000 per mm[3], neutrophils > 85%, CRP > 48 mg/L or new findings on chest examination suggestive of pneumonia' and radiological evidence of new or progressive and persistent infiltrates. Percentages were compared using chi-square test with the significance at p-value less than 0.05. Of the 93 children requiring mechanical ventilation during the study period, 16 developed VAP [17%]. Almost half [46%] were younger than 1 year with male to female ratio of 1.2:1. Children developing VAP required ventilation for 13.5 [+ 10.1] days compared to 7.7 [+ 5.5] days in those who did not develop VAP. The common organisms isolated were Pseudomonas, Klebsiella and E. coli. Factors associated with increased frequency of VAP included age less than 1 year, unplanned emergency intubation and use of continuous intravenous sedation. Features that strongly suggested underlying VAP included purulent tracheal secretions compared to increased secretions alone, CRP > 48 mg/L, positive radiological findings and positive tracheal aspirate culture. Overall mortality was 23% among the ventilated cohort. Thirty two percent of them had VAP compared to only 13% among those who survived to discharge [p = 0.03]. The frequency of VAP was 17% in this series. Factors significantly associated with VAP were age less than 1 year, unplanned intubation and continuous sedation. The important predictors of VAP included purulent tracheal secretions, high CRP and persistent new radiological findings

Socioeconomic risk factors for asthma in child

The purpose of the study was to explore and explain different socioeconomic conditions and factors related to childhood asthma, Cross sectional descriptive study, This study was conducted at the Children's Hospital and the Institute of Child Health, Lahore for a period of three month. This is a descriptive study done at the asthma clinic of the Children's Hospital and the Institute of Child Health, Lahore. Total 110 patients were included in the study between 2-16 years, An objectively designed structured questionnaire was used and data was collected after taking consent from the parents. Out of 110 patients, the commonest age was 2-8 years for both males and females. The disease was most common in boys [63.6%] and urban area [57.3%] had higher frequency than patients from semi urban [24.5%] or rural areas [18.2%]. Asthma was more common in lower and middle class than upper. Different socioeconomic risk factors involved in the increased frequency of asthma were smoking, animals at home and environmental dust. Allergic reactions to food, change in weather and preceding upper respiratory tract infections also play an important role. Poor socioeconomic class, uneducated families, urban life and environmental allergen exposure are responsible for increase frequency of asthma and by investing resources in to community based education and support services we can provide a better control of asthma to our community

case of polyglandular autoimmune syndrome type I with unusual presentation

Eight years old girl presented with mucocutaneous candidiasis, nail dystrophy, twitching left half of face, progressively increasing generalized skin hyperpigmentation and hypopigmented patches over both shins. Her investigations revealed low intact PTH level, low serum cortisol, high ACTH, impaired glucose tolerance test and candidal onycomycosis. She was diagnosed as Polyglandular Autoimmune Syndrome [PGA] type I. She also developed idiopathic generalized epileptiform seizures and Alcaligenes faecalis septicemia not previously reported with PGA type I. The patient responded well to alphacalcidol, hydrocortisone, valproate sodium, topical antifungal and systemic antibiotic

child with roberts syndrome

Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome

neonate with Poland-Mobius syndrome

Poland-Mobius syndrome is a combination of two rare congenital syndromes characterized by congenital facial weakness, loss of abduction of eyes, limb defects, and absence or hypoplasia of the pectoral muscles. A patient with features of both the Mobius syndrome and the Poland syndrome is presented in this case report

Relationship of joint hypermobility and musculoskeletal problems and frequency of benign joint hypermobility syndrome in children

The majority of individuals with joint hypermobility remain asymptomatic. However, those associated with Benign Joint Hypermobility Syndrome [BJHS], develop a number of systemic manifestations. Our objective was to determine the relationship between joint hypermobility and musculoskeletal problems, and frequency of BJHS in children and adolescents. This crosssectional observational descriptive study was conducted at Outpatient Department, The Children's Hospital, Lahore, Pakistan. A total of 872 individuals [4-18 year] were examined for hypermobile joints using Beighton score >/= 4. A questionnaire was implied to get data regarding demographic profile, musculoskeletal and extra-articular complaints, family history of joint problems and daily activity. Brighton's criteria were implied for diagnosis of BJHS. The frequency of joint hypermobility was 37.0%; male 39.5%, and female 34.2% [p=0.1]. There was a gradual decline in mean Beighton score with age. The female population showed increase in mean Beighton score around 16-17 year age. Arthralgias and back pains 7.7% vs. 1.6%, [p<0.001], and hernias 2.5% [p=0.03] were significantly higher in individuals with joint hypermobility. History of joint problems in the family was also significantly higher in children with joint hypermobility [p=0.01]. BJHS was detected in 4.8% children [male 3.6% and female 6.3%, p=0.06]. Arthralgias [51.0%], hernias [16.3%], joint dislocations [8.2%] and varicose veins [8.2%] were the most common presentations. BJHS is common among children. Arthralgias, back pains and hernias are significantly higher in these individuals

Johanson-blizzarci syndrome with diamond-blackfan anemia

Johanson Blizzard syndrome [JBS] is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, cafe-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Johanson Blizzard syndrome with classical clinical features, pancreatic insufficiency and Diamond-Blackfan anemia

Management of periorbital defects with local flaps after resection of basal cell carcinoma eye lids

Basal cell carcinoma [BCC] is the most common malignant tumour of eyelids. In this study management of periorbital defects of patients treated for BCC is described. A prospective study. This study was done from June 2001 to October 2003 at CMH Quetta. This study included all the patients suffering from BCC who were treated for periorbital defects resulting from resection of BCC. Fifteen patients with periorbital BCC were included in this study. Eight were males and seven were females. Ages varied from forty to seventy years. These patients were treated by cheek flap, muscular flap, Glabellar flap and Tenzel flap. An early detection and timely management of eyelid BCC give excellent results and prevent disfigurement and morbidity

Comparison of three prognostic scores [PRISM, PELOD and PIM 2] at pediatric intensive care unit under Pakistani circumstances

To compare the performance of the Pediatric Risk of Mortality [PRISM], the Pediatric Index of Mortality 2 [PIM 2] and Pediatric Logistic Organ Dysfunction [PELOD] scores at general pediatric intensive care unit in a developing country setting, investigating the relation between observed and predicted mortality. A contemporary cohort study was undertaken at Pediatric Intensive Care Unit [PICU], Children's Hospital, Institute of Child Health, Lahore, Pakistan. 131 consecutive admissions fulfilling the inclusion criteria were enrolled in the study. PRISM, PIM 2 and PELOD calculations were performed as set out by original articles, using the published formulae. Statistical analysis included Standardized Mortality Rate [SMR], Hosmer Lemeshow goodness of fit test, receiver operating curve [ROC] characteristics and Spearman's correlation test. 139 patients were admitted to PICU. 38 presented exclusion criteria. 29 [28.7%] patients died. Estimated mortality was; PRISM: 19.7[19.5%], PIM: 21.01[20.5%] and PELOD: 18.4[18.3%]. SMR was 1.47 [SD +/- 0.19], 1.4 [SD +/- 0.19] and 1.57 [SD +/- 0.19], respectively. PRISM had better calibration [x[2] = 7.49, p = 0.49] followed by PIM 2 [x[2] = 9.65, p = 0.29]. PIM 2 showed best discrimination with area under ROC = 0.88 [0.81-0.94] followed by PRISM 0.78 [0.67-0.89] and PELOD 0.77 [0.68-0.87]. Spearman's correlation r between PRISM and PIM 2 returned 0.74 [p < 0.001]. PRISM as well as PIM 2 is validated for PICU setting in Pakistani circumstances. PELOD performed poorly. PIM 2 has advantages over PRISM for stratification of patients in clinical trials

Familial hypomagnesemia hypercalciuria [manz syndrome]

We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of Henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome" who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis

Efficacy of steroids, Cyclosporin and cyclophos-phamide in steroid resistant idiopathic nephrotic syndrome

To determine the efficacy of three different treatment protocols in steroid resistant idiopathic nephrotic syndrome, [SRINS]. Interventional study. Department of Nephrology at The Children's Hospital, Lahore, over a period of 3 years from January 2000 to December 2002. Nephrotic children who did not respond to four weeks of steroid therapy [60mg/M2] followed by three pulses of methyl prednisolone [1Gm/1.73M2] over a period of one week were labeled as steroid resistant. Those with histopathological lesions of minimal change disease [MCD], focal segmental glomerulosclerosis [FSGS] and Mes. PGN were divided into 3 groups. Group-I was treated with cyclophosphamide [CPM] and oral steroids, group-II with cyclosporine and oral steroids and group-III with pulse methyl prednisolone [MPP] and oral steroid + CPM. The response to treatment and course of disease were observed in each group. Twenty patients with mean age of 4.4 years were enrolled. On the whole 10 [50%] had complete remission. In group-I, 5 [50%], in group-II, 3 [75%] and in group-III, 2 [33.3%] had complete remission. Depending upon histological lesion 100% [n=2] with MCD, 50% [n=6] with Mes. PGN and 25% [n=1] with FSGS achieved complete remission. Cyclosporine and CPM induced remission in 100% of patients with MCD, while in Mes.PGN response rate in group-I, II, and III was 100% [n=1], 50% [n=1], and 44.4% [n=4] respectively. In patients with FSGS, MPP was the only drug used with limited response of 25% [n=1]. Cyclosporine proved to be a better option for MCD and Mes. PGN, while MPP showed limited response in patients with FSGS

Nephronophthisis: a variant

The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis [NPH]. Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly. Thus, every patient with NPH should be carefully examined for extra-renal involvement

Serum zinc level in children with malnutrition

Serum zinc level amongst children with protein energy malnutrition [PEM] was evaluated in a control study conducted in the Department of Paediatrics, Allama lqbal Medical College and Jinnah Hospital, Lahore. Twenty-five children with PEM and 25 healthy children as control from the community were screened. Mean serum zinc level was found to be 54.48 +/- 18.91 mg/dl in children with PEM while it was 72.72 +/- 8.21 mg/dl in control group [P< 0.001]. No significant difference in zinc level was noted between both sexes in each group. Marasmic 16 children revealed mean serum zinc level of 57.55 +/- 18.16 mg/dl while in Kwashiorkor it was 44.57 +/- 13.66 mg/dl. Serum zinc was significantly low in Kwashiorkor than in marasmus [P < 0.001]. It was also significantly low in children with acute or chronic diarrhoea associated with malnutrition [44.66 +/- 16.0 mg/dl]. Acute respiratory infections in these children were not associated with low serum zinc level [71.66 +/- 16.51 mg/dl]