Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report.

Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS. Case presentation: A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication. Conclusion: Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.

A case report of hypokalemic periodic muscular weakness secondary to Sjögren's syndrome with distal renal tubular acidosis.

Key Clinical Message: An underlying autoimmune condition should be suspected in patients who presented with periodic muscular weakness secondary to distal RTA that leads to hypokalemia because distal RTA is commonly associated with autoimmune disorders such as Sjögren's syndrome. Abstract: A 22-year-old female presented with a sudden onset of bilateral weakness in both upper and lower limbs. The patient had a history of muscular weakness secondary to hypokalemia and dryness of the eyes for the last 3 years. Laboratory investigations revealed decreased potassium and metabolic acidosis. Further investigations confirmed distal renal tubular acidosis (RTA) and Sjögren's syndrome. A diagnosis of distal RTA secondary to Sjögren's syndrome was made. Her potassium levels were replaced, and she was discharged with oral potassium supplements, steroids, and artificial tears.

Effectiveness of laser and topical tranexamic acid combination therapy in melasma: An updated systematic review and meta-analysis of randomized controlled trials.

Melasma is a chronic relapsing skin condition. Laser therapy is a new advancement in treatment. Whether the topical application of tranexamic acid (TXA) increases the efficacy of laser therapy in melasma is still under debate. With recent studies yielding different results, it was imperative to compile all the available literature systematically. This meta-analysis investigates the effectiveness of a combination therapy of laser plus TXA acid for treating melasma. PubMed/MEDLINE, Cochrane Central, Google Scholar, Scopus, and the International Clinical Trials registry were systematically searched for article retrieval. Screening per PRISMA guidelines was undertaken by two independent reviewers using the Covidance database. Melasma area of severity index (MASI)/modified MASI was used as the clinical improvement outcomes. A total of nine studies that described the combined use of topical tranexamic acid with laser therapy were included for meta-analysis. These studies employed various types of lasers along with topical TXA. The results showed that the combination of both laser therapy and topical TXA significantly decreased the MASI score (P < 0.0001). Subgroup analyses revealed that fractional CO2 laser among the laser types and monthly laser plus twice daily topical TXA were most effective in decreasing the MASI/mMASI score. The meta-analysis found that combining topical tranexamic acid and laser therapy is an effective and safer treatment option for treatment-resistant melasma. Furthermore, monthly fractional CO2 laser and daily application of topical tranexamic acid showed high effectiveness and safety.

Diagnostic Dilemma of ANA-negative Pediatric Systemic Lupus Erythematosus in a South Asian Female.

Background: Systemic lupus erythematosus (SLE) is an autoimmune disorder affecting multiple organs with different degrees of severity. SLE is typically diagnosed based on the presence of antinuclear antibodies (ANA) in the serum. However, seronegative SLE is rare and is diagnosed by clinicians when the patient's ANA is negative but fulfills other diagnostic criteria. Case report: We report a case of a 15-year-old South Asian female with SLE who had negative antinuclear antibodies yet displayed the typical clinical presentations of photosensitive maculopapular rash, joint pain, alopecia, anemia, and thrombocytopenia. Clinical evaluations in conjunction with lab results were used to establish a diagnosis of ANA-negative SLE. Conclusion: ANA positivity is an entry criterion for SLE; rarely, cases of ANA-negative SLE may present. A typical clinical presentation may help determine the diagnosis in such a scenario. However, still, the physician should rule out immunodeficiency and other systemic illnesses before reaching a diagnosis of ANA-negative pediatric SLE.

Snakebite Induced Cerebral Venous Sinus Thrombosis: A Case Report.

Introduction: Cerebral venous sinus thrombosis (CVST) is a rare but highly fatal neurological condition mostly caused by prothrombotic conditions like antiphospholipid syndrome, factor V Leiden, and G20210A prothrombin polymorphism. Snake bites are a rare cause of cerebral venous sinus thrombosis that must be recognized and treated promptly to improve survival. Case presentation: We present a case of a 25-year-old male who developed headaches and seizures following a Viper snake bite. The diagnosis was made based on a magnetic resonance venogram (MRV) showing transverse sinus thrombosis with sigmoid sinus stenosis. Initially, the patient was treated with antivenom and supportive treatment for disseminated intravascular coagulation (DIC). After the diagnosis of CVST, the patient was treated with rivaroxaban and levetiracetam. The patient improved within 1 week of treatment and was advised to follow up in 3 months. Conclusion: A high index of suspicion for cerebral venous sinus thrombosis is required if the patient presents with headaches, seizures, or abnormal vision following a snake bite. Early diagnosis and management can prevent further neurological damage.

Idiopathic unilateral third nerve palsy with pupillary sparring in 10-year-old child -a case report.

Introduction and importance: Aneurysm, diabetes mellitus, central nervous system (CNS) infections, pituitary tumors, and ischemia alterations are all potential causes of unilateral oculomotor nerve palsy, a common clinical disease. Case presentation: A 10-year-old child presented with right eyelid ptosis and restricted eye movements associated with diplopia and pain in the right eye. Brain imaging and laboratory tests revealed no obstruction, infection, or hypercoagulable state. The condition was labeled as idiopathic. A patient was diagnosed with ptosis through a sling procedure and after 2 and 4 weeks of follow-up was told he had mild anemia. The patient was prescribed ferrous sulfate 8mg once daily for 4 months and his condition improved. Clinical discussion: Surgery can correct the appearance of crossed eyes, but it seldom restores or significantly improves binocular function. Amblyopia and the loss of binocular vision can occur in children with third nerve palsy due to the excessive angle of incitant strabismus and the resulting ptosis. Conclusion: Patients with idiopathic third nerve palsy must be informed of their prognosis so that they can make an informed decision about whether or not to undergo surgery. Clinical examination is the only way to identify a child's condition and proper investigations and a full history of prenatal and antenatal courses are required.

Diagnostic dilemma of celiac disease presenting with weight loss and secondary amenorrhea: A case report.

RATIONALE: Celiac disease (CD) is autoimmune enteropathy affecting the proximal small intestinal mucosa. It is caused by insensitivity to gluten, a protein predominantly presented in wheat. CD is classically associated with gastrointestinal symptoms. The non-classic clinical presentation of CD can present with other organ involvement. Non-human leukocyte antigens genes are associated with atypical forms. PATIENTS CONCERN: We reported a case of 30-year-old female who presented with progressive pallor, amenorrhea, and unexplained weight loss with generalized body weakness. Her body mass index was 20. The patient was having no other systemic manifestations. DIAGNOSIS: This paper reports a case of a female patient having CD without its typical features. Her laboratory evaluation revealed microcytic anemia. Anti-TTg IgA and Anti-TTG IgG antibodies were raised, ferritin and folate were low, and there was mild hyperbilirubinemia. However, follicle-stimulating hormone, luteinizing hormone, and serum estradiol levels were normal. She was diagnosed with a case of anemia resulting from malabsorption caused by CD. INTERVENTIONS: A management plan was devised based on a strict gluten-free diet. The patient received supplements containing folates, iron, calcium, zinc, and vitamins A, D, E, B6, and B12. OUTCOMES: After 3 months of treatment with strict gluten-free diet patient showed remarkable improvement. Her hemoglobin level raised with weight gain. Her normal menstrual cycle was restored with complete resolution of symptoms at 1 year follow-up. LESSONS: The pathogenesis of the atypical CD is multifactorial, but impaired uptake of micronutrients from the duodenum is the most likely cause, even if other common features of classical forms, such as bloating and diarrhea, are absent. Lack of awareness about atypical forms may lead to under-diagnoses of the disease. The physicians should consider the atypical presentations of CD to avoid the under-diagnoses of this multisystem disorder.

Non-Hodgkin's lymphoma masquerading as splenic abscess: A case report.

Background: Non-Hodgkin's lymphoma (NHL) is a monoclonal proliferation of lymphoid cells from B lineage. Although NHLs are primarily hematological tumors of lymph nodes but rarely can involve extranodal sites such as the spleen. Case report: A 29-year-old female patient presented with low-grade fever, cough, anemia, weight loss, tender left hypochondrium, and splenomegaly. A hypodense lesion in the spleen with central necrosis, having strong positivity for common leukocyte antigen (LCA), CD 20, and CD 10, led to a diffuse large B cell lymphoma diagnosis. The patient had an excellent clinical post-splenectomy response to combination chemotherapy and immunotherapy. Conclusion: NHL can present with symptomatic extra-nodal involvement without enlarged lymph nodes.

Readmission to paediatric intensive care unit: frequency, causes and outcome.

Readmission to intensive care units is considered to be an important quality indicator in ICU settings. This study was carried out at the paediatric intensive unit (PICU) and step down units of paediatric ward at the Aga Khan University Hospital, Karachi, Pakistan, to assess the frequency, common causes and outcome of patients readmitted in PICU within 48 hours after discharge from unit. During the study period, 1022 patients were admitted in PICU, out of which 24 (2.34%) patients required readmission. Male to female ratio was 1.2:1. The mean length of stay on paediatric floor before readmission was 24 hours. Fifteen (62%) patients were readmitted due to worsening of primary condition while 9 (38%) developed new problems. Respiratory problems accounted for 15 (62.5%) of readmissions, followed by cardiovascular 4 (16.5%) and sepsis related causes 3 (12.5%). The mortality rate of readmitted patients was 21% (5/24) in this study as compared to overall PICU mortality of 122 (11.93%).