Acute Porphyria: An Unusual Case Of Quadriparesis, Hypertension, Recurrent Severe Cyclic Abdominal Pain, And Seizures.

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. These symptoms together were not explained by the differentials taken into account. She presented before puberty with no family history of such conditions, while being born of consanguineous marriage. Her symptoms along with urinary porphobilinogen positivity test helped to reach the diagnosis of AIP in the absence of cutaneous manifestations. This case highlights the variable presentation of porphyria and emphasises the importance of appropriate and timely diagnosis and management in these patients.

Case report of a child with spontaneous pneumomediastinum and subcutaneous emphysema.

Hamman's syndrome is a rare clinical entity that presents with spontaneous pneumomediastinum and subcutaneous emphysema. It is most commonly diagnosed in young men and pregnant women, and is rare in children. We report the case of a female toddler who presented to an emergency department with fever, cough and shortness of breath. Imaging studies revealed subcutaneous emphysema and pneumomediastinum. The patient was diagnosed with Hamman's syndrome after ruling out other possibilities. We discuss the underlying mechanisms of the disease, the diagnostic criteria and the treatment options. The purpose of this case report is to improve clinicians' awareness of the existence of this rare clinical entity in paediatric patients.

Idiopathic Pulmonary Haemosiderosis: An Unusual Case Of Anaemia With Pulmonary Involvement.

Idiopathic pulmonary haemosiderosis is a rare disorder, with recurrent life-threatening alveolar haemorrhages and chronic lung parenchymal changes. It is associated with a triad of haemoptysis, iron deficiency anaemia, and diffuse pulmonary infiltrates. Although most cases are idiopathic, secondary haemosiderosis linked to known diseases has also been observed. Most of the cases remain undiagnosed because the disease is very low on the list of differentials. There is no specified age for the disease. The present study reports on an adolescent female patient who presented with microcytic anaemia and bilateral lung infiltrates to the National Institute of Child Health (NICH), Karachi, a tertiary care hospital. She was diagnosed with Idiopathic pulmonary haemosiderosis after ruling out other possibilities.

Evaluation of the Resources and Inequities Among Pediatric Critical Care Facilities in Pakistan.

OBJECTIVES: To evaluate nationwide pediatric critical care facilities and resources in Pakistan. DESIGN: Cross-sectional observational study. SETTING: Accredited pediatric training facilities in Pakistan. PATIENTS: None. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: A survey was conducted using the Partners in Health 4S (space, staff, stuff, systems) framework, via email or telephone correspondence. We used a scoring system in which each item in our checklist was given a score of 1, if available. Total scores were added up for each component. Additionally, we stratified and analyzed the data between the public and private healthcare sectors. Out of 114 hospitals (accredited for pediatric training), 76 (67%) responded. Fifty-three (70%) of these hospitals had a PICU, with a total of 667 specialized beds and 217 mechanical ventilators. There were 38 (72%) public hospitals and 15 (28%) private hospitals. There were 20 trained intensivists in 16 of 53 PICUs (30%), while 25 of 53 PICUs (47%) had a nurse-patient ratio less than 1:3. Overall, private hospitals were better resourced in many domains of our four Partners in Health framework. The Stuff component scored more than the other three components using analysis of variance testing ( p = 0.003). On cluster analysis, private hospitals ranked higher in Space and Stuff, along with the overall scoring. CONCLUSIONS: There is a general lack of resources, seen disproportionately in the public sector. The scarcity of qualified intensivists and nursing staff poses a challenge to Pakistan's PICU infrastructure.

A relation between serum albumin level and prognosis of critically ill children admitted to the paediatric Intensive Care Unit.

OBJECTIVE: To determine the frequency of hypoalbuminaemia in critically ill children, and to assess the association of low serum albumin with clinical deterioration and outcome. METHODS: The prospective, descriptive study was conducted from September 1, 2020, to October 31, 2021, at the National Institute of Child Health, Karachi, and comprised critically ill children of either gender aged between 3 months and 16 years admitted to the paediatric intensive care unit. Serum albumin values were documented at 2 hours post-admission and at 24 hours. Paediatric Index of Mortality 2 score, Vasoactive Inotropic Score, and Paediatric Sequential Organ Failure Assessment scores were calculated. Hypoalbuminaemia was defined as serum albumin ≤3.3gdl. Data was analysed using SPSS 27. Results: Of the 110 patients, 70(63.6%) were boys and 40(36.4%) were girls. The overall mean age was 46.72±43.28 months. Hypoalbuminaemia at 24 hours was found in 74(67.3%) subjects compared to 60(54.5%) at 2 hours, and mean serum albumin was lower at 24 hours compared to 2 hours post-admission (p<0.05). Patients with hypoalbuminaemia had significant relation with Paediatric Index of Mortality 2 score, Vasoactive Inotropic Score, Paediatric Sequential Organ Failure Assessment score, and outcome (p<0.05). The risk of mortality was 4.1 times higher in patients with hypoalbuminaemia (p=0.001). CONCLUSIONS: The incidence of hypoalbuminaemia was found to be higher in children in intensive care settings, and hypoalbuminaemia was a significant independent predictor of mortality in a critically ill child.

Clinical and epidemiological features of pediatric population hospitalized with COVID-19: a multicenter longitudinal study (March 2020-December 2021) from Pakistan.

Background: We aimed to explore the epidemiological, clinical, and phenotypic parameters of pediatric patients hospitalized with COVID-19 in Pakistan. Methods: This longitudinal cohort study was conducted in five tertiary care hospitals in Pakistan from March 2020 to December 2021. Data on various epidemiological and clinical variables were collected using Case Report Forms (CRFs) adapted from the WHO COVID-19 clinical data platform at baseline and at monthly follow-ups for 3 months. Findings: A total of 1090 children were included. The median age was 5 years (Interquartile range 1-10), and the majority presented due to new signs/symptoms associated with COVID-19 (57.8%; n = 631), the most common being general and respiratory symptoms. Comorbidities were present in 417 (38.3%) children. Acute COVID-19 alone was found in 932 (85.5%) children, 81 (7.4%) had multisystem inflammatory syndrome (MIS-C), 77 (7.0%) had overlapping features of acute COVID-19 and MIS-C, and severe disease was found in 775/1086 (71.4%). Steroids were given to 351 (32.2%) patients while 77 (7.1%) children received intravenous immunoglobulins. Intensive care unit (ICU) care was required in 334 (31.6%) patients, and 203 (18.3%) deaths were reported during the study period. The largest spike in cases and mortality was from July to September 2021 when the Delta variant first emerged. During the first and second follow-ups, 37 and 10 children expired respectively, and medical care after discharge was required in 204 (25.4%), 94 (16.6%), and 70 (13.7%) children respectively during each monthly follow-up. Interpretation: Our study highlights that acute COVID-19 was the major phenotype associated with high severity and mortality in children in Pakistan in contrast to what has been observed globally. Funding: The study was supported by the World Health Organization (WHO), which was involved in the study design but played no role in its analysis, writeup, or publication.

A quasi experimental study to compare thermo-regulator blanket with conventional method (incubator) for temperature regulations in preterm, low birth weight neonates landing at emergency department of a tertiary care paediatric facility.

Objective: To compare incubator and thermal blanket for thermoregulation in preterm and low birth weight neonates. METHODS: The pilot study was conducted from January to March 2018 at the emergency department of the National Institute of Child Health, Karachi, and comprised preterm and low birth weight neonates without any co-morbidity who were randomised to control and interventional groups. Data was collected using a proforma about demographics, weight, gestational age and brief clinical history. Temperature, blood pressure and pulse were monitored along with other routine care after every 15 minutes in the incubator, and the same procedure was adopted for thermal blankets. Data was analysed using Statistical Package for Social Sciences (SPSS) Version 23. RESULTS: Of the 38 subjects, 19(50%) each were cases and controls. The mean gestational age between the groups was not significantly different (p>0.05). Temperature for the first 60 minutes remained similar in the two groups, but at 75 minutes and onwards, the incubator showed a significantly better results (p<0.05). Conclusion: Thermal blankets can sufficiently provide a hyperthermic environment to the neonates, but an incubator is a more reliable option to provide sustained temperature.

Response to nebulized salbutamol versus combination with ipratropium bromide in children with acute severe asthma.

OBJECTIVE: To compare the efficacy of nebulised salbutamol alone and in combination with ipratropium bromide in acute severe asthma in children. METHODS: The randomised controlled trial was conducted at the National Institute of Child Health, Karachi, from October 2012 to March 2013, and comprised patients with acute severe asthma who were randomised into two equal groups. Group A patients received 3 doses of nebulised salbutamol alone (0.03 ml/kg/dose) at 15-minute intervals and Group B received 3 similar doses of salbutamol along with ipratropium (250 ug/dose). Acute severe asthma was categorised as serve exacerbation (clinical score >10) and moderate (5-10 score) based on Bentur Modification. Efficacy was measured after 5minutes of the last dose by change in severity score from severe exacerbation (baseline) to low score. SPSS 10 was used for statistical analysis. RESULTS: There were two groups of 100(50%) patients each. The mean age in Group A was 9.1±3 years and 9.3±2.8 years in Group B. Male-Female ratio in Group A was 1.5:1 and in Group B it was 1.2:1. In Group B, 93(93%) children showed improvement in clinical score (<10 score) while it was 84(84%) in Group A. There was better response in clinical score in Group A than Group B, but it was not significant (p>0.05). CONCLUSIONS: The combination of nebulised salbutamol along with ipratropium bromide in the treatment of acute asthma exacerbation was not superior to salbutamol alone.

A cross sectional study on juvenile idiopathic arthritis in paediatric population.

OBJECTIVE: To determine the frequency of common subtypes of juvenile idiopathic arthritis among paediatric population. METHODS: The cross-sectional study was conducted at the National Institute of Child Health, Karachi, from January to June, 2010, and comprised children below 16 years of age with arthritis in one or more joints for at least 6 weeks. Physical examination was done and detailed history was recorded. When >5 joints of the body were involved, it was considered polyarthritis. If <4 joints were involved, it was pauciarticular arthritis. RESULTS: Of the 95 cases in the study, 52(54.7%) were girls and 43(45.3%) were boys, with an overall mean age of 11±1.2 years. Polyarticular arthritis was found in 51(53.7%) subjects and pauciarticular arthritis in 44(46.3%). Out of 43 boys, 27(62.8%) had pauciarticular, while 35(67.3%) of the 52 girls had polyarticular arthritis. CONCLUSIONS: Polyarticular arthritis was the most common sub-type. Proportion of polyarticular arthritis was high in female children, while pauciarticular arthritis was high in male children.