Metabolic diagnostic work-up in chronic conditions
Marie-Cécile Nassogne1, Lucie Hertz-Pannier
1Pediatric Neurology and Metabolism, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Handbook of Clinical Neurology
|April 30, 2013
Summary
Investigating inborn errors of metabolism is crucial for chronic neurological conditions. This work outlines a diagnostic approach for progressive neurological signs across all pediatric age groups.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatrics
Background:
- Neurological symptoms frequently manifest in inborn errors of metabolism (IEMs).
- A systematic approach is needed to diagnose IEMs presenting with chronic neurological conditions.
Purpose of the Study:
- To present a general diagnostic strategy for investigating IEMs in patients with chronic neurological conditions.
- To cover progressive neurological signs from early infancy through adolescence.
Main Methods:
- A diagnostic work-up framework is proposed.
- The framework evaluates motor, cognitive, and behavioral signs.
- Age-specific evaluations are designed for early infancy, late infancy to early childhood, and late childhood to adolescence.
Main Results:
- The chapter reviews IEMs associated with peripheral neuropathies.
- It also covers IEMs linked to microcephaly or macrocephaly.
- A structured approach aids in identifying IEMs in diverse neurological presentations.
Conclusions:
- Early and systematic investigation of IEMs is vital for managing chronic neurological conditions in children.
- The proposed diagnostic work-up aids in identifying IEMs across different pediatric age ranges and specific neurological phenotypes.
Related Concept Videos
01:29Chronic Pancreatitis II: Collaborative Care
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
01:27Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
Medical History
01:28Chronic Kidney Disease III: Interprofessional Care
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
01:22Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...
01:30Serum Laboratory Studies, Stool Test, Breath Test
Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
01:25Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis
Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...