Year 2021, Volume 5 - Issue 8

Background: Vici syndrome is a rare, autosomal recessive multisystem disorder, first described in 1988 by Dionisi-Vici. This syndrome is characterized by corpus callosum agenesis, oculocutaneous hypopigmentation, cataracts, immunodeficiency, and cardiomyopathy with additional variable multisystem manifestations. Case Presentation: We present a case of a 2-month-old infant, born preterm via Spontaneous vaginal delivery (SVD). He presented with fever, fits, and developmental delay. His weight and head circumference were below the third percentile for age and sex. In addition, he had hypopigmented skin and hair, a long philtrum, micrognathia, and high-arched palate. He had generalized hypotonia and hyporeflexia and his eyes showed horizontal nystagmus. His brain magnetic resonance imaging showed agenesis of corpus callosum, colpocephaly, and periventricular necrosis of white matter. He was admitted as a case of Vici syndrome and was treated for infections and seizures. He presented to emergency afterward as well for sepsis and eventually died of cardiopulmonary arrest at an age of 6 months. Conclusion: Vici syndrome is a rare disease and around 80 cases have been reported so far. This is a first reported case in Pakistan. It has variable presentation but agenesis of corpus callosum, recurrent infections, microcephaly, cardiomyopathy, cataracts, seizures, developmental delay, and hypopigmentation remain the most common features.

Background: To detail two cases of sarcomatoid urothelial carcinoma (UC) with rapid progression, disseminated metastases, and early death, detailing the results of somatic tumor profiling using next-generation sequencing (NGS). Case Series: The first case presented is a rare case of UC of the renal pelvis with osteosarcomatous differentiation and venous tumor thrombus in a 65-year-old man found to have a heterozygous germline variant of unknown significance in the neurofibromatosis-1 gene. The second case is a 72-year-old woman with sarcomatoid UC of the bladder. Herein, we discuss the presentation and clinical course, histology, immunohistochemical profiles, and somatic tumor testing results. We then review the literature regarding this rare and aggressive entity, detail options for optimal management, and address the role of molecular profiling in these cases. Conclusion: Sarcomatoid UC is a rare and aggressive entity. NGS may be useful in these cases to guide systemic therapy.

Background: Malignant pleural mesothelioma (MPM) is a rare, aggressive, and hard-to-treat tumor whose worldwide incidence has been rising since mid-20th century. It that has been etiologically associated to asbestos exposure. Prognosis is poor with an overall survival rate of less than 1 year in untreated patients. Although considered a disease of the elderly, a subset of patients with mesothelioma are young. MPM is a rare cause of pleural effusion in the clinical practice among younger adults. Therefore, a high index of suspicion is required for its diagnosis. Case presentation: We herein describe a 31-year-old male patient with a BRCA1-associated-protein-1 negative MPM who presented with recurrent pleural effusions. The patient had no history of asbestos exposure. Conclusion: MPM is a rare cause of pleural effusion in the clinical practice among younger adults. Therefore, a high index of suspicion is required for its diagnosis.

Background: Coronaviruses can affect multiple body systems and respiratory failure is the most common complication. Since the outbreak of coronavirus disease-2019 (COVID-19) in January 2020, the association between COVID-19 and Guillain-Barre syndrome (GBS) has been growing. GBS is known to be triggered by an antecedent infection, mostly viruses. Case Presentation: We present a case of GBS in an 83-year-old female patient with a confirmed COVID-19 infection. The patient initially presented with fever, cough, and fatigue. She was treated with intravenous fluid and symptomatic treatment and discharged home after stabilization. Several weeks after her initial encounter, she experienced bilateral paresthesias as well as numbness and tingling in her lower extremities. The patient’s neurological symptoms were not alleviated with standard intravenous immune globulin (IVIG) therapy; however, her symptoms significantly improved with subsequent plasmapheresis therapy. Conclusion: Based on the emerging evidence of recent studies, there is a possible connection between COVID-19 and GBS. Clinicians should be aware of the neurological manifestations of COVID-19 infection. Early diagnosis and proper treatment of COVID-19 and its neurological symptoms are crucial to increase the chance of a successful recovery.

Background: Malrotation of the intestines is an uncommon pediatric condition that typically presents in the first month of life. Case Presentation: Using the SCARE 2020 Guidelines, we report a case of a 12-year-old female with omphalocele and bilobed liver herniation presenting with chronic intestinal malrotation. A computed tomography of the abdomen and pelvis with IV contrast revealed a peritoneal defect measuring 4 cm in the upper abdomen, containing the gut including pylorus, duodenum while retrospective distension of the stomach was seen up to the pylorus. The open Ladd’s procedure was performed to correct the defect. No complications were noted intra- or 1 month post-operatively. Patients with intestinal malrotation may present with abdominal pain, intestinal obstruction, nausea, or vomiting. Conclusion: The open Ladd’s procedure was deemed safe, feasible, and effective in a resource limited country like Pakistan, in the treatment of young children with intestinal malrotation.

Background: Brucellosis is a zoonotic infection, commonly presenting with osteoarticular involvement. Spinal brucellosis occurs in up to 65% of affected cases, but the occurrence of a psoas abscess is rare, and may mislead the clinician to an alternative diagnosis such as tuberculosis (TB). Case Presentation: Our patient presented with history of fever and lower backache. On evaluation, he was found to have L1-L2 spondylodiscitis with an associated large left psoas abscess. Given the endemicity of TB in India, it was the first considered differential diagnosis. The abscess fluid culture, however, grew Brucella melitensis. On carefully reviewing his history, it was found that the patient had contact with goats as a part of his occupation, explaining the source of the Brucella infection. Conclusion: Brucellosis must be kept in mind as a differential diagnosis for spondylodiscitis even in the occurrence of psoas abscess, a rarity, as seen in this case - in the background of relevant contact history and endemicity.

Background: Infectious mononucleosis (IM) is known to present with upper airway obstructive symptoms; however, the association with lingual tonsillitis as a potential cause is rare. Case Presentation: We present a case of a 23-year-old male patient presenting with symptoms mimicking supraglottitis and later diagnosed as lingual tonsillitis complicating IM. Conclusion: It is imperative to keep lingual tonsillitis in sight in patient with symptoms of IM with airway compromise.