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Comprehensive Pediatrics Glossary

A

Abdomen (Pediatric Abdomen)

  • Definition: The region between the chest and pelvis containing digestive organs, spleen, kidneys, and in children, commonly assessed for congenital anomalies and infections.

  • Clinical Importance:

    • Commonly evaluated for distension (e.g., ascites, bowel obstruction).

    • Hepatosplenomegaly is a hallmark of infections, hematologic diseases, and metabolic storage disorders.

  • Investigations: Ultrasound, X-ray (for NEC, obstruction), CT in trauma.

Abdominal Distension

  • Definition: Visible enlargement of the abdomen due to gas, fluid, or organ enlargement.

  • Causes in Pediatrics:

    • Neonates: Necrotizing enterocolitis (NEC), Hirschsprung’s disease, meconium ileus.

    • Infants/Children: Ascites, hepatosplenomegaly, bowel obstruction, constipation.

  • Red Flags: Bilious vomiting, shock, abdominal tenderness (possible NEC/sepsis).

Abetalipoproteinemia

  • Definition: Rare autosomal recessive disorder characterized by absence of apolipoprotein B.

  • Clinical Features:

    • Steatorrhea, failure to thrive, fat-soluble vitamin deficiencies.

    • Neurological signs: Ataxia, retinitis pigmentosa.

  • Management: High-dose vitamin supplementation (A, D, E, K), medium-chain triglycerides.

Abetal Thalassemia (Hemoglobinopathies)

  • Definition: Beta-chain hemoglobin synthesis disorders.

  • Clinical Features: Microcytic anemia, hepatosplenomegaly, bone deformities.

  • Management: Blood transfusion, iron chelation, curative stem cell transplantation.

Acanthosis Nigricans (Pediatrics)

  • Definition: Hyperpigmented, velvety thickening of skin folds.

  • Causes:

    • Insulin resistance (type 2 diabetes, obesity).

    • Rarely associated with endocrine disorders or malignancy.

  • Clinical Relevance: Red flag for metabolic syndrome screening in children.

Achondroplasia

  • Definition: Most common skeletal dysplasia caused by FGFR3 mutation.

  • Features:

    • Disproportionate short stature (rhizomelic limb shortening).

    • Macrocephaly with frontal bossing.

    • Midface hypoplasia.

  • Complications: Hydrocephalus, obstructive sleep apnea, spinal stenosis.

Acidosis (Metabolic Acidosis in Pediatrics)

  • Definition: Decrease in systemic pH due to accumulation of acids or bicarbonate loss.

  • Types:

    • High anion gap: Lactic acidosis, DKA, renal failure, poisoning.

    • Normal anion gap: Diarrhea, renal tubular acidosis.

  • Investigations: ABG, electrolytes, lactate, urine pH.

  • Management: Treat underlying cause; bicarbonate therapy only in severe cases.

Acne Vulgaris (Pediatric/Adolescent Dermatology)

  • Definition: Chronic inflammatory disorder of pilosebaceous units.

  • Clinical Presentation:

    • Comedones (open/closed), papules, pustules, nodules.

    • Often worsens in adolescence due to hormonal surge.

  • Treatment:

    • Topical retinoids, benzoyl peroxide, antibiotics.

    • Severe nodulocystic acne: Isotretinoin.

Acrocyanosis

  • Definition: Bluish discoloration of extremities in newborns due to immature circulation.

  • Normal Variant: Seen in first few days of life, not associated with hypoxemia.

  • Red Flag: Persistent generalized cyanosis suggests congenital heart disease.

Acute Lymphoblastic Leukemia (ALL)

  • Definition: Malignant proliferation of lymphoid precursors, most common childhood cancer.

  • Epidemiology: Peak 2–5 years, boys > girls.

  • Presentation:

    • Anemia, bleeding (thrombocytopenia), infections (neutropenia).

    • Hepatosplenomegaly, lymphadenopathy, bone pain.

  • Investigations: CBC, bone marrow biopsy (>25% blasts).

  • Management: Multi-agent chemotherapy, CNS prophylaxis, stem cell transplant for relapse.

Acute Rheumatic Fever (ARF)

  • Definition: Autoimmune inflammatory response to Group A β-hemolytic Streptococcus.

  • Major Jones Criteria: Carditis, polyarthritis, chorea, erythema marginatum, subcutaneous nodules.

  • Complications: Rheumatic heart disease (mitral stenosis).

  • Management:

    • Penicillin (eradicate infection).

    • Aspirin/corticosteroids for inflammation.

    • Long-term prophylaxis with benzathine penicillin.

Adenoid Hypertrophy

  • Definition: Enlargement of nasopharyngeal lymphoid tissue.

  • Symptoms: Mouth breathing, snoring, sleep apnea, recurrent otitis media.

  • Treatment: Adenoidectomy in persistent obstructive or recurrent infection cases.

Adrenal Insufficiency (Addison’s Disease in Pediatrics)

  • Definition: Inadequate production of adrenal cortex hormones (cortisol ± aldosterone).

  • Clinical Features:

    • Hypoglycemia, hypotension, hyperpigmentation, salt craving.

    • Crisis: Shock, vomiting, hyponatremia, hyperkalemia.

  • Management:

    • Hydrocortisone replacement.

    • Crisis: IV hydrocortisone + IV fluids + correct electrolytes.

Adrenoleukodystrophy (X-linked)

  • Definition: Peroxisomal disorder with accumulation of very long-chain fatty acids.

  • Clinical Features:

    • Progressive neurologic decline, adrenal insufficiency.

  • Management: Supportive, bone marrow transplant in early disease.

Agranulocytosis

  • Definition: Severe neutropenia (<500/μL).

  • Causes: Drug-induced (clozapine, antithyroid drugs), congenital.

  • Clinical Features: Severe infections (mouth ulcers, fever).

  • Management: Immediate broad-spectrum antibiotics, G-CSF, remove offending drug.

Airway Obstruction (Pediatric)

  • Definition: Blockage of airway leading to respiratory compromise.

  • Causes by Age:

    • Neonates: Choanal atresia, laryngomalacia.

    • Infants/children: Foreign body aspiration, croup, epiglottitis.

  • Management:

    • Basic airway maneuvers.

    • Heimlich maneuver (age-appropriate).

    • Intubation or tracheostomy if severe.

Alagille Syndrome

  • Definition: Genetic disorder (JAG1 mutation) affecting bile ducts and multiple systems.

  • Clinical Features:

    • Cholestasis with jaundice.

    • Cardiac anomalies (pulmonary stenosis).

    • Butterfly vertebrae, facial dysmorphism.

  • Management: Fat-soluble vitamin supplementation, liver transplant in severe cases.

Albinism

  • Definition: Inherited disorder with absent/reduced melanin synthesis.

  • Clinical Features: Hypopigmented skin/hair, nystagmus, photophobia, reduced visual acuity.

  • Complications: Increased risk of skin cancer.

  • Management: Sun protection, visual aids, dermatology follow-up.

Allergic Rhinitis

  • Definition: IgE-mediated nasal mucosa inflammation due to allergens.

  • Clinical Features: Rhinorrhea, sneezing, nasal congestion, allergic shiners.

  • Treatment: Allergen avoidance, antihistamines, intranasal corticosteroids.

Alopecia Areata

  • Definition: Autoimmune hair loss disorder.

  • Clinical Features: Patchy hair loss, exclamation-mark hairs.

  • Management: Topical corticosteroids, immunotherapy in severe cases.

Alport Syndrome

  • Definition: Genetic nephropathy due to type IV collagen mutations.

  • Clinical Features: Hematuria, progressive renal failure, sensorineural hearing loss, ocular defects.

  • Management: ACE inhibitors (slow progression), dialysis/transplantation.

Ambiguous Genitalia

  • Definition: Atypical external genitalia at birth, difficult to classify as male or female.

  • Causes: Congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome, chromosomal abnormalities.

  • Management: Multidisciplinary team, karyotyping, hormonal studies, surgical correction if indicated.

Amblyopia (Lazy Eye)

  • Definition: Reduced vision in one eye due to abnormal visual development.

  • Causes: Strabismus, refractive errors, cataracts.

  • Management: Correct refractive error, patching dominant eye, early intervention critical.

Amebiasis (Pediatric GI Infection)

  • Definition: Infection by Entamoeba histolytica.

  • Presentation: Diarrhea, dysentery, liver abscess.

  • Diagnosis: Stool antigen/PCR.

  • Management: Metronidazole + luminal agent (paromomycin).

Aneurysm (Berry Aneurysm in Children)

  • Definition: Localized arterial dilatation. Rare in children, but may occur with connective tissue disorders.

  • Complications: Subarachnoid hemorrhage.

  • Management: Neurosurgical intervention.

Angelman Syndrome

  • Definition: Neurodevelopmental disorder due to maternal chromosome 15q11–13 deletion.

  • Clinical Features:

    • Severe developmental delay, seizures, microcephaly.

    • Happy demeanor (“happy puppet syndrome”), inappropriate laughter.

  • Management: Supportive, seizure control, developmental therapy.

Ankyloglossia (Tongue-tie)

  • Definition: Shortened lingual frenulum restricting tongue movement.

  • Clinical Relevance: Breastfeeding difficulties, speech problems.

  • Management: Frenotomy if symptomatic.

Anorexia Nervosa (Adolescents)

  • Definition: Eating disorder characterized by weight loss, body image distortion, and restrictive eating.

  • Complications: Amenorrhea, osteoporosis, electrolyte imbalance.

  • Management: Multidisciplinary team (nutritionist, psychologist, physician).

Anorectal Malformations

  • Definition: Spectrum of congenital anomalies of the anus and rectum.

  • Clinical Features: Absent/abnormal anal opening, fistulae.

  • Diagnosis: Cross-table lateral X-ray, US.

  • Management: Surgical repair.

Anthrax (Pediatric Infections)

  • Definition: Infection by Bacillus anthracis.

  • Forms: Cutaneous, inhalational, GI.

  • Management: Ciprofloxacin or doxycycline, antitoxin in severe cases.

Antibiotic Stewardship (Pediatrics)

  • Definition: Rational use of antibiotics to prevent resistance.

  • Key Principles: Avoid unnecessary prescriptions, correct dosing/duration, narrow-spectrum when possible.

Aortic Coarctation (Congenital Heart Disease)

  • Definition: Narrowing of aortic lumen, usually near ductus arteriosus.

  • Clinical Features:

    • Hypertension in upper limbs, weak femoral pulses.

    • Differential BP in arms vs. legs.

  • Investigations: Echocardiography, CXR (rib notching).

  • Management: Prostaglandin E1 in neonates, balloon angioplasty/surgical repair.

Apert Syndrome

  • Definition: Craniosynostosis syndrome with syndactyly.

  • Clinical Features: Cranial deformities, midface hypoplasia, fused fingers/toes.

  • Management: Surgical correction, supportive care.

Appendicitis (Pediatrics)

  • Definition: Inflammation of appendix, most common surgical emergency in children.

  • Clinical Features: Periumbilical pain → RLQ, fever, vomiting, rebound tenderness.

  • Investigations: US, CBC (leukocytosis).

  • Management: Appendectomy ± antibiotics.

Arnold-Chiari Malformation

  • Definition: Congenital downward displacement of cerebellar tonsils ± brainstem.

  • Symptoms: Hydrocephalus, headache, ataxia, myelomeningocele association.

  • Management: Neurosurgical decompression.

Arrhythmia (Pediatric Cardiology)

  • Definition: Abnormal cardiac rhythm.

  • Common Types: Supraventricular tachycardia (SVT), long QT syndrome, AV block.

  • Management: Vagal maneuvers, adenosine, antiarrhythmics, pacing if severe.

Arthrogryposis

  • Definition: Congenital joint contractures.

  • Causes: Neuromuscular disorders, intrauterine restriction.

  • Management: Physiotherapy, orthopedic intervention.

Asthma (Pediatric Asthma)

  • Definition: Chronic inflammatory airway disorder with reversible obstruction.

  • Clinical Features: Recurrent wheeze, cough, breathlessness, nocturnal symptoms.

  • Investigations: Spirometry (obstruction reversible with bronchodilator).

  • Management:

    • Acute: Oxygen, inhaled β2 agonists, systemic steroids.

    • Chronic: Stepwise therapy (inhaled corticosteroids ± LABA).

Ataxia (Pediatric Neurology)

  • Definition: Impairment of coordination and balance.

  • Causes:

    • Acute: Post-infectious cerebellitis, intoxication.

    • Chronic: Friedreich’s ataxia, ataxia telangiectasia.

  • Management: Treat underlying cause, supportive care.

Atopic Dermatitis (Eczema)

  • Definition: Chronic relapsing inflammatory skin disease.

  • Features: Itchy, dry, eczematous patches (face, flexures).

  • Triggers: Allergens, irritants, stress.

  • Treatment: Emollients, topical steroids, antihistamines, biologics in refractory cases.

Atrial Septal Defect (ASD)

  • Definition: Congenital defect in atrial septum.

  • Types: Ostium secundum (most common), primum, sinus venosus.

  • Clinical Features: Asymptomatic or exertional dyspnea, fixed split S2.

  • Management: Spontaneous closure in small defects, device/surgical closure for large defects.

Attention-Deficit Hyperactivity Disorder (ADHD)

  • Definition: Neurodevelopmental disorder with inattention, hyperactivity, impulsivity.

  • Diagnosis: DSM-5 criteria.

  • Management:

    • Behavioral therapy.

    • Stimulants (methylphenidate, amphetamines).

    • Non-stimulants (atomoxetine, guanfacine).

Autism Spectrum Disorder (ASD)

  • Definition: Neurodevelopmental disorder with deficits in social communication, restricted/repetitive behaviors.

  • Clinical Features: Poor eye contact, speech delay, repetitive movements, sensory hypersensitivity.

  • Management: Early intervention, speech/occupational therapy, behavioral therapy.

Autoimmune Hepatitis (Pediatric Hepatology)

  • Definition: Chronic liver inflammation due to autoimmunity.

  • Clinical Features: Hepatomegaly, jaundice, fatigue.

  • Investigations: ANA, SMA antibodies, raised transaminases, biopsy.

  • Management: Corticosteroids ± azathioprine.

 

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