Música

The session begins with introductory music.

Radiological Findings

• The patient underwent two radiographic studies.

• The first study on June 30, 2022, revealed bilateral diffuse reticulonodular infiltrates in the right lung field.

• The second study on July 5 showed ill-defined opacities in the right lung field and retrocardiac region.

Clinical Case Discussion

• A female infant from Veracruz presented with early-onset severe illness, leading to suspicion of primary immunodeficiency.

• Diagnoses included failure to thrive, necrotizing enterocolitis, and pneumonia due to Klebsiella infection.

Diagnostic Assessment

• Detailed physical features indicated syndromic presentations such as high anterior hairline, wide nasal bridge, and short neck.

• Medical assessments identified failure to thrive based on poor weight gain and necrotizing enterocolitis due to multiple colon perforations.

Systemic Presentation and Immune Deficiency

The discussion revolves around a patient with systemic issues due to underlying pathology, focusing on postoperative wound healing failure and innate immune deficiency.

Systemic Issues and Postoperative Complications

• Postoperative complications included a large abdominal surgical wound with intestinal evisceration, fistula sites, perianal wound, and non-healing.

Innate Immunity Deficiency

• The patient exhibited early-onset severe infections requiring parenteral antibiotics, poor wound healing, lack of granulation tissue, insidious clinical course, and inadequate response to treatment.

Importance of Early Detection in Severely Ill Patients

• Emphasizes the challenge of diagnosing immune deficiencies in patients with less severe symptoms or general conditions.

Early Signs of Immune Deficiencies

• Identifying warning signs like growth failure, recurrent deep abscesses, IV antibiotic dependence for infections can aid in early detection.

Clinical Considerations for a Pediatric Patient

The discussion revolves around urgent hematological consultation for a pediatric patient with potential emergent conditions like leukocytosis to prevent complications. Diagnostic considerations include primary immunodeficiencies and specific clinical manifestations.

Justification for Urgent Hematological Consultation

• : Urgent hematological consultation is crucial, considering emergent conditions like leukocytosis to prevent vas occlusive complications due to hyperviscosity.

Diagnostic Considerations for Primary Immunodeficiencies

• : In a critically ill pediatric patient with persistent infections, primary immunodeficiency, particularly severe combined immunodeficiency (SCID), is a differential diagnosis.

Clinical Manifestations and Exclusion of Specific Pathologies

• : Lack of opportunistic pathogen isolates, absence of lymphoid tissue, and normal chest X-ray findings exclude certain pathologies like thymic shadow or early thymic migrants.

• : Absence of characteristic features such as facial abnormalities or skeletal anomalies rules out syndromes like IPEX syndrome.

Differentiating Granulomatous Diseases in Pediatrics

The focus shifts to differentiating granulomatous diseases in pediatric patients based on clinical presentations and genetic considerations.

Evaluation for Granulomatous Diseases

• : Characteristics like recurrent infections and absence of granulomas or genetic markers help rule out chronic granulomatous disease in the presented case.

Key Features of Chronic Granulomatous Disease

• : Susceptibility to recurrent infections due to impaired immune responses characterizes chronic granulomatous disease, which was not evident in the patient's presentation.

Understanding Leukocyte Adhesion Deficiency Syndrome

Exploring leukocyte adhesion deficiency syndrome (LAD) as an autosomal recessive disorder affecting leukocyte trafficking and its clinical implications.

Pathophysiology of Leukocyte Adhesion Deficiency Syndrome

• : LAD results from defects in CD18 integrin expression, hindering leukocyte migration towards infection sites, leading to a cascade of clinical manifestations such as intense leucemoid reactions.

Clinical Features and Implications

• : Patients with LAD exhibit recurrent bacterial infections primarily on skin and mucosal surfaces, emphasizing the importance of understanding the molecular basis for altered immune responses.

New Section

The discussion revolves around the separation of the umbilical cord, delayed separation in patients with leukocyte adhesion deficiency, potential complications like omphalitis, and anomalies related to the omphalomesenteric duct.

Separation of Umbilical Cord

• Delayed separation due to leukocyte adhesion deficiency impacts healing cascade.

• Investigation needed if cord remains attached after three weeks.

Omphalitis and Infections

• Omphalitis could be an initial site for infectious processes.

• Polymicrobial infection by various bacteria noted in patients with leukocyte adhesion deficiency.

New Section

Anomalies related to the omphalomesenteric duct are discussed, highlighting implications such as intestinal obstruction based on closure patterns.

Anomalies of Omphalomesenteric Duct

• Increased frequency of anomalies in patients with leukocyte adhesion deficiency.

• Closure variations can lead to intestinal obstructions at different levels.

New Section

The challenges of poor wound healing post-surgery in patients with deficiencies are explored along with potential interventions like immunoglobulins and exosomes.

Poor Wound Healing

• Recurrent surgeries due to poor wound healing cycle.

• Interventions include immunoglobulins and exosomes for wound healing promotion.

New Section

The significance of CD18 deficiency severity on clinical manifestations is discussed, impacting patient outcomes and treatment options like transplants.

CD18 Deficiency Severity

• Severity linked to surface expression levels of CD18.

• Impact on infection susceptibility and lifespan; transplant as a corrective measure.

New Section

Management strategies for patients with leukocyte adhesion deficiencies are outlined, emphasizing hygiene, antibiotic treatments, vaccines, and hematopoietic cell transplants.

Patient Management Strategies

• Hygiene practices crucial for mild cases; antibiotics essential for severe infections.

Detailed Pathological Findings

The discussion delves into the detailed histopathological findings from an autopsy, highlighting key observations related to intestinal necrosis, inflammatory infiltrates, and tissue alterations.

Dr. Ramón's Presentation

• Dr. Ramón presents histopathological findings from the autopsy, revealing:

• Intestinal wall necrosis extending through mucosa to serosa.

• Inflammatory infiltrates with bacterial presence and fibrin in vessels.

• Adipose tissue visibility due to severe inflammation in subsequent sections.

Tissue Examination Details

• Observations include:

• Mononuclear cell predominance with macrophages and thrombosis in vessels.

• Decent of surgical wound with intestinal loops protruding and fibrinous exudate.

• Presence of enterocutaneous fistula on the left side.

Microscopic Analysis

Microscopic examination reveals further insights into tissue alterations, vascular changes, and inflammatory responses within different segments of the digestive tract.

Detailed Histological Examination

• Microscopic analysis uncovers:

• Granulomatous reactions indicating ongoing repair processes.

• Fibroblastic proliferation in mesentery with vascular thrombosis.

• Predominantly mononuclear inflammatory infiltrates without neutrophils.

Specific Organ Histology

• Esophageal histology shows dilated vessels occupied by inflammatory cells.

• Stomach exhibits superficial epithelial changes, ulcers, and inflamed layers including serosa.

Preliminary Medical Findings

The speaker describes detailed medical findings from a patient's autopsy, highlighting various organ abnormalities and pathological conditions.

Proliferation of Bacteria and Organ Abnormalities

• Necrotic anal ulcer with extensive coagulative necrosis and minimal inflammatory cell response.

• Congestive liver appearance with greenish-brown color due to abdominal sepsis reaction.

• Liver showing centrolobular necrosis areas indicative of shock state, hemosiderosis, and leukostasis in sinusoids.

Heart, Lungs, and Pancreas Findings

• Enlarged heart with right ventricular outflow tract dilation and myocardial ischemia.

• Bilateral severe lung congestion without pneumonia but presence of atelectasis areas.

• Lung abnormalities include alveolar macrophages, multinucleated giant cells, and lymphangiectasis.

Kidneys and Bone Marrow Examination

• Congested kidneys with small scars indicating interstitial nephritis likely due to sepsis.

• Acute tubular necrosis in kidney vessels along with leukostasis seen in immunodeficiency cases.

• Hypercellular bone marrow suggestive of myeloid series hyperplasia releasing immature cells into circulation.

Final Diagnosis and Cultures Results

The speaker concludes the diagnosis based on autopsy findings including surgical interventions' effects, shock data, lymph node abnormalities, neutrophilic tissue reactions, positive cultures for Pseudomonas Yela as the cause of death.

Autopsy Diagnosis Details

• Multiple surgical interventions led to intestinal restrictions, fistulas formation alongside lymph node sinus hyperplasia showing leukostasis.

Positive Cultures Results

• Positive cultures mainly for Pseudomonas Yela across organs identified as the primary cause of death.

Clinical Medicine and Immunodeficiencies

In this section, Dr. Omar Saucedo discusses clinical medicine and immunodeficiencies, focusing on the challenges in diagnosing primary immunodeficiencies post-COVID-19 pandemic.

Dr. Omar Saucedo's Insights

• Dr. Saucedo, an expert in immunology and allergies, highlights the risk of overlooking primary immunodeficiencies post-pandemic due to potential overdiagnosis or underdiagnosis.

• He emphasizes the importance of recognizing key signs of immunodeficiency such as poor response to antibiotics, recurrent infections like pneumonia or sinusitis, and family history of immune disorders.

• Discusses the limitations of traditional alarm signs for detecting innate immunity errors and suggests additional indicators like abnormal vaccine responses or chronic diarrhea for referral to an allergist-immunologist.

• Provides essential data points for general pediatricians to consider when suspecting immunodeficiencies, including recurrent pneumonias, frequent otitis media infections, and poor growth failure.

Genetic Diagnosis in Clinical Settings

The discussion shifts towards genetic diagnosis in a clinical setting with a focus on utilizing advanced techniques for accurate diagnoses.

Genetic Diagnostic Approaches

• Dr. América Villaseñor explains the use of complete exome sequencing as a preferred tool due to its ability to detect new genes associated with monogenic diseases.

• Highlights the limitations of massive gene sequencing in identifying new genes but recommends whole-genome sequencing if initial tests are inconclusive.

General Overview

In this segment, the discussion revolves around disease detection rates, genetic inheritance counseling for parents, and the importance of understanding autosomal recessive inheritance patterns.

Disease Detection Rates and Genetic Counseling

• : Disease detection rates for certain conditions range from 70% to 80% internationally.

• : Parents of affected individuals need counseling on autosomal recessive inheritance; a child must inherit two affected gene copies, often from carrier parents with a 25% risk per pregnancy.

Clinical Approach and Diagnostic Considerations

The conversation shifts towards clinical approaches in cases like leukemoid reaction hyperleukocytosis, emphasizing diagnostic considerations and potential treatment strategies.

Clinical Assessment and Diagnostic Approach

• : Exploring the possibility of leukemoid reaction hyperleukocytosis as an explanation for various symptoms and complications.

• : Differentiating between leukemoid reaction (30,000 to 50,000 WBC) and hyperleukocytosis (>100,000 WBC), considering hyperviscosity-related complications like enterocolitis.

Treatment Strategies and Considerations

Delving into treatment options for patients with hyperleukocytosis or leukemoid reactions while discussing the efficacy of procedures like leukapheresis.

Treatment Approaches

• : Highlighting the use of corticosteroids in managing hyperleukocytosis-related complications.

• : Considering potential underlying causes such as neonatal leukemia or genetic disorders like Down syndrome in patients presenting with significant leukocyte abnormalities.

Therapeutic Interventions and Controversies

Addressing therapeutic interventions like ex-sanguineous transfusion as an alternative to leukapheresis due to controversies surrounding its efficacy in reducing mortality rates.

Therapeutic Decision-Making

• : Discussing the potential benefits of ex-sanguineous transfusion in reducing hyperviscosity-related complications.

• : Evaluating the risks associated with leukapheresis in pediatric patients and considering alternative interventions based on individual patient characteristics.

Pediatric Management Perspectives

Transitioning towards insights on pediatric management strategies for conditions like necrotizing enterocolitis, emphasizing tailored approaches based on clinical presentations.

Pediatric Care Considerations

• : Outlining challenges in diagnosing atypical cases of necrotizing enterocolitis compared to classic presentations seen in premature infants.

Clinical Discussion on Enterocolitis

In this segment, the discussion revolves around the management of classic enterocolitis in pediatric patients, emphasizing the importance of timely intervention and the role of pediatric surgeons in evaluating disease progression.

Management of Classic Enterocolitis

• Classic enterocolitis can initially be managed through observation. However, once characteristic signs are present or a confirmed diagnosis is made, it is advisable for a pediatric surgeon to assess the child's progress.

• Timely intervention is preferred over operating on a complicated patient. When pneumatosis intestinalis is detected, it signals a critical point for surgical evaluation. Diagnosis via ultrasound is becoming more common due to its ability to provide earlier detection compared to traditional X-rays.

Conclusion of Session

• The session concludes with gratitude towards Dr. Cristian for his valuable insights and knowledge shared during the discussion on enterocolitis management. The session is deemed rich in content and learning opportunities.