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INTRODUCTION: Congenital thrombotic thrombocytopenic purpura (CTTP), also called Upshaw-Schulman syndrome (USS), is a rare autosomal recessive disorder resulting from the deficiency of the ADAMTS13. CTTP is characterized by the formation of platelet-rich thrombi in small vessels of multiple organs, resulting in thrombocytopenia and microangiopathic hemolytic anemia, eventually leading to organ failure. CASE REPORT: We present a case of an 11-month-old male infant with CTTP lacking classic features of the disease. Instead, his clinical picture portrayed vitamin B12 deficiency, leading to misdiagnosis and subsequent treatment delay. CONCLUSION: This case led to the conclusion that congenital TTP should be suspected in case of vitamin B12 deficiency if the child does not respond to the vitamin B12 replacement therapy. We also emphasize that management for CTTP should be started at its earliest in case of increased clinical suspicion to avoid worse outcomes, especially in countries lacking rapid availability of enzyme assay.

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An epidermal inclusion cyst is a benign lesion, frequently observed throughout the body. However, its presence in the retrorectal region is a rare occurrence. With a higher incidence in women and non-specific symptoms, these cysts are mostly an incidental finding. Here, we report a case of a 33-year-old female presenting with complaints of abdominal pain and sensation of incomplete and painful defecation. The patient's history revealed that a large pelvic cyst was found incidentally during her first cesarean section (CS) owing to an arrest in labor. A presumptive diagnosis of rectal duplication cyst was made based on digital rectal exam (DRE), computed tomography (CT), and magnetic resonance imaging (MRI) findings. For cyst removal, the patient underwent a midline laparotomy. A postoperative biopsy led to the confirmed diagnosis of the retrorectal epidermal inclusion cyst. On follow-up, our patient showed a smooth recovery without any complications. We conclude that when dealing with a pregnant woman with a pelvic mass, developmental cysts should always be kept in mind. Timely diagnosis and management of a retrorectal mass is essential for effective treatment and to prevent subsequent complications.

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Jejunal adenocarcinoma, a small bowel adenocarcinoma (SBA), is a rare cause of small bowel obstruction. Jejunal adenocarcinoma classically presents with vague clinical symptoms, i.e., abdominal pain, discomfort, and weight loss, making timely diagnosis challenging. Owing to its diagnosis at a late stage, the prognosis of jejunal adenocarcinoma is poor. Curative resection of the tumor at the early stages remains a treatment of choice. Here, we report a case of a 55-year-old man presenting with symptoms of nausea, vomiting, abdominal pain, abdominal distension, and relative constipation. Computed tomography (CT) scan showed dilated small bowel loops. Exploratory laparotomy was performed, which revealed a jejunal stricture and dilated small bowel loops proximal to it. Suspicious stricture, along with the diseased portion of the intestine, was removed through en-bloc resection. Histopathology and metastatic workup revealed moderately differentiated adenocarcinoma with stage IIB (T4aN0M0). We conclude that, although rare, jejunal adenocarcinoma should be kept in mind when dealing with a patient presenting with symptoms indicating small bowel obstruction. Our purpose is to emphasize laparotomy as both a diagnostic and surgical modality for SBAs in early stages, especially in setups of low economic countries where advanced imaging techniques are relatively inaccessible.

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Background The current pandemic of the novel coronavirus disease (COVID-19) is a global health challenge. Pulmonary dysfunction is the main outcome of COVID-19 infection. In critically ill patients, however, liver complications have also been reported. Thus, we conducted a systematic review and meta-analysis to draw generalized conclusions regarding impaired liver biochemistry and its potential relationship with COVID-19 disease severity. Materials and Methods We searched the PubMed, Scopus, and Web of Science databases for all the related literature published up to June 20, 2020. The data were analyzed using R statistical software. A random-effects model was employed for pooling the data. The risk of bias and quality of included studies was assessed using the modified Newcastle-Ottawa Scale (NOS) for cohort studies. Results The present meta-analysis comprises 10 retrospective and two prospective studies (6,976 COVID-19 patients). The serum analysis revealed significantly higher levels of alanine aminotransferases and aspartate aminotransferases and significantly lower albumin levels. Moreover, insignificant increases in serum levels of total bilirubin were observed. Upon subgroup analysis of six studies (severe cases, n=131; non-severe cases, n=334) stratified on the basis of disease severity, we found that these abnormalities were relatively higher in severe cases of COVID-19 (albumin [weighted mean difference (WMD), 34.03 g/L; 95% CI, 27.42 to 40.63; p<0.0001; I2=96.83%); alanine transaminase (ALT) [WMD, 31.66 U/L; 95% CI, 25.07 to 38.25; p<0.0001; I2=55.64%]; aspartate aminotransferase (AST) [WMD, 41.79 U/L; 95% CI, 32.85 to 50.72; p<0.0001; I2=51.43%]; total bilirubin [WMD, 9.97 µmol/L; 95% CI, 8.46 to 11.48; p<0.0001; I2=98%]) than in non-severe cases. Conclusion Deranged liver enzymes serve as prognostic factors to assess the severity of COVID-19. Liver markers should, therefore, be observed and monitored continuously.

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Background Malnutrition is a significant public health concern and a leading contributor to the global burden of children's diseases, affecting 50 to 150 million children under the age of five years worldwide. Globally, undernutrition accounts for approximately 33% of the deaths among under-fives. South Asia alone contributes to 50% and 38.8% of the world's population of wasted and stunted children, respectively. In Pakistan, malnutrition is the leading cause of childhood mortality, accounting for nearly 35% of all deaths under five years of age. Severe acute malnutrition (SAM), the most severe form of malnutrition, is often associated with electrolyte imbalances. This study aimed to determine the frequency of electrolyte imbalance in children with SAM admitted at a tertiary care hospital. Methods This cross-sectional study includes 184 patients with SAM aged between 6 and 60 months, who were admitted at the inpatient Department of Pediatrics, Dr. Ruth K. M. Pfau, Civil Hospital, Karachi, Pakistan, from January 17, 2017 to July 16, 2017. Weight and length/height were measured, and weight-for-height was calculated. Children were labeled to have SAM when weight-for-height was below -3 standard deviation (SD). Blood samples for serum electrolytes were drawn and sent to the lab. Descriptive statistics were calculated, and stratification was performed using the chi-square test. A p-value of ≤0.05 was considered statistically significant. Results  The mean age of participants was 22.63 ± 12.71 months. Of the 184 patients with SAM, 172 (93.5%) patients had electrolyte imbalance. Hypokalemia was present in 79.9%, whereas hypocalcemia, hyponatremia, and hypomagnesemia were present in 71.7%, 48.9%, and 13.6%, respectively. Post-stratification results showed a significant association of electrolyte imbalance with gender (p = 0.005) and educational status of parents (p = 0.001). Conclusions Electrolyte disturbances are common in SAM. Serum electrolytes of every malnourished child admitted should be assessed and corrected to avoid fatal outcomes. We suggest that more research with better study designs should be conducted to develop policies and strategies for successfully combating malnutrition in Pakistan. In the meantime, we recommend adopting national guidelines for the management of acute malnutrition to reduce morbidity and mortality.

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Background and objectives Vitamin D deficiency is a global public health issue, which affects people of all ages and ethnicities. However, severe deficiency seems to be more prevalent in the Middle East and South Asia. Evidence suggests that low serum 25-hydroxycholicalciferol [25(OH)D] levels are associated with an increase in parathyroid hormone (PTH). Yet, the 25-OHD levels leading to serum PTH increase are still a matter of debate. The objective of this study is to assess deficiency of vitamin D in otherwise healthy individuals, and to determine the response of the PTH to vitamin D deficiency. Methods This observational study was conducted from January 2018 to May 2018. A total of 43 individuals were selected from three separate clinics in Libya (Alrazy clinic, Alhaya clinic, and Alnukbah clinic). Blood drawn from these individuals was assessed for serum calcium, phosphorus, 25(OH)D, and PTH. These data were collected and analyzed using the Statistical Package for Social Sciences (SPSS) version 17.0 for Windows (SPSS Inc., Chicago, IL). Results The mean age and standard (SD) of the study participants was 47.4 ± 12.4. The age range was 19-67 years. The ratio of male to female was 1:2. The percentage of individuals with vitamin D deficiency in the study group was 95.3%, whereas the percentage of vitamin D insufficiency was 4.7%. These data suggest that individuals with severe deficiency show higher PTH values (75.66 ng/ml), whereas those with insufficiency showed lower PTH values (37.5 ng/ml). Conclusion The population in the present study was overall deficient in 25-OH vitamin D, which indicates a greater need for supplementation with vitamin D. However, not all the individuals with vitamin D deficiency have high levels of PTH, a finding that agrees with the need for new criteria in the management of vitamin D deficiency and the importance of PTH testing.

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First identified in November 2019 in Hubei Province, the coronavirus disease of 2019 (COVID-19) caused by SARS-CoV-2 soon spread worldwide to become a global health pandemic. The COVID-19 preferentially damages the respiratory system that produces symptoms such as fever, cough, and shortness of breath. However, the infection often tends to disseminate to involve various organ systems. Recent evidence indicates that SARS-CoV-2 can cause significant neurological damage and resultant neurological symptoms and complications. Here, we provide a comprehensive and thorough review of original articles, case reports, and case series to delineate the possible mechanisms of nervous system invasion and damage by SARS-CoV-2 and subsequent consequences. We divided the neurological manifestations into three categories: (1) Central Nervous System involvement, (2) Peripheral Nervous System manifestations, and (3) Skeletal Muscle Injury. Headache and dizziness were found to be the most prevalent symptoms followed by impaired consciousness. Among the symptoms indicating peripheral nervous system invasion, anosmia and dysgeusia were commonly reported. Skeletal muscle injury predominantly presents as myalgia. In addition, encephalitis, myelitis, cerebrovascular disease, Guillain-Barre syndrome, and Miller Fischer syndrome were among the commonly noted complications. We also emphasized the association of pre-existing comorbidities with neurological manifestations. The aim of this review is to provide a deeper understanding of the potential neurological implications to help neurologists have a high index of clinical suspicion allowing them to manage the patient appropriately.

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Chylomicron retention disease (CMRD), also known as Anderson's disease, is an autosomal recessive condition with a genetic mutation in the secretion associated Ras related GTPase 1B (SAR1B) gene, a protein coding gene. CMRD classically manifests as steatorrhea, vomiting, failure to thrive or abdominal bloating shortly after birth or in childhood. Here, we report a rare case of a 50-day-old male infant who was, at first, overseen as a case of acute gastroenteritis with sepsis owing to the non-specific symptoms i.e. multiple episodes of loose stools with a low-grade fever and failure to thrive, and was managed accordingly. However, the symptoms did not resolve; moreover, the clinical condition deteriorated. Later, lipid profile, clinical presentation and pathological features led to a presumptive diagnosis of CMRD. Our patient showed significant improvement when treated with a trial of medium- and short-chain fatty acids. We conclude that, in resource-restricted countries, a therapeutic trial with the dietary changes is essential to not only prevent the devastating complication but also support the diagnosis.

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Amoebiasis is a common infection widely prevalent in tropical countries with low income and poor sanitation. The clinical picture is usually nonspecific; however, invasion of the liver by Entamoeba histolytica could lead to an amoebic liver abscess (ALA). It is relatively uncommon in women and children. Though rare, extension of ALA into the lungs, pleural cavity, and pericardium may prove fatal. Pericardial amoebiasis is a rare complication which, if not treated early, could result in cardiac tamponade and subsequent death. The standard management option is eradication with metronidazole along with the drainage of fluid from the liver abscess and pericardial effusion. Herein, we present a case of a seven-year-old male child with ALA, who developed signs and symptoms suggesting pericardial effusion within a few days of hospital admission. Early diagnosis of pericardial complication and successful management of abscess resolved the pericardial effusion.