Lists for learning

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Sometimes there is no escaping simply having to learn lists of causes of conditions. See below for handy lists for learning, or click on the headings for in-depth knowledge.

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Contents

Retinitis Pigmentosa

  • Abetalipoproteinaemia.
  • Kearns-Sayre Syndrome (progressive external ophthalmoplegia).
  • Laurence-Moon-Biedl Syndrome.
  • Usher Syndrome (with hearing loss).
  • Mucopolysaccharidoses.
  • Late onset gangliosidoses.


Clubbing

Cardiac

  • Infective endocarditis
  • Cyanotic congenital heart disease
  • Atrial myxoma

Respiratory (COPD not a cause)

  • Lung cancer
  • Chronic pulmonary suppuration:
    • Bronchiectasis
    • Lung abscess
    • Empyema
  • Idiopathic pulmonary fibrosis
  • Cystic fibrosis
  • Asbestosis
  • Pleural mesothelioma (benign fibrous type) or pleural fibroma

Gastrointestinal

  • Cirrhosis (especially billiary cirrhosis)
  • Inflammatory bowel disease
  • Coeliac disease

Other

  • Thyrotoxicosis
  • Familial (usually before puberty)
  • Idiopathic

Rare

  • Neurogenic diaphragmatic tumours
  • Pregnancy
  • Secondary hyperparathyroidism

Unilateral clubbing

  • Bronchial arteriovenous aneurysm
  • Axillary artery aneurysm


Short stature

Short stature is defined as height for age 2 standard deviations below the mean (<0.4th centile on growth charts).

  • Familial
  • Constitutional delay
  • Nutritional / digestion / absoroption
    • Coeliac disease
    • Crohn's disease
    • Cystic fibrosis
  • Chronic disease
    • Chronic renal failure
  • Social / emotional deprivation
  • Malformation syndromes
  • Endocrine
    • Hypothyroidism
    • Low growth hormone
    • Long term steroid therapy
  • Disorders of bone growth
    • Achondroplasia
    • Storage disorders

Jaundice, neonatal

Unconjugated hyperbilirubinaemia

  • Physiological
  • Breast milk
  • Cephalohaematoma
  • Infection eg. UTI
  • Galactosaemia (early)
  • Hypothyroidism / Hypopituitarism
  • Polycythaemia
  • Haemolytic
    • Haemolytic disease of the newborn (Rh, ABO, Kell)
    • Membrane defects: Spherocytosis, Elliptocytosis
    • Enzyme defects: G6PDD, Pyruvate kinase deficiency
    • Sepsis
  • Enzyme dysfunction
    • Gilbert's syndrome
    • Crigler Najjar syndrome


Conjugated hyperbilirubinaemia

Hepatic

  • Infections
    • UTI
    • TORCH
    • Hepatitis viruses
  • Neonatal Hepatitis
  • Hypothyroidism / Hypopituitarism
  • Galactosaemia (later)
  • Cystic fibrosis
  • Alpha-1 antitrypsin deficiency
  • Parenteral nutrition
  • Amino / organic acidurias

Post-hepatic

Diabetes Mellitus

Diagnostic criteria: fasting plasma venous blood sugar level of 7mmol/L or more, or a two-hour postprandial blood sugar level of 11.1mmol/L or more, on more than one occasion.

Primary

  • Type I
    • Insulin-dependent diabetes mellitus (juvenile onset)
  • Type II
    • Non-insulin dependent diabetes mellitus
      • Non-obese
      • Obese
      • Maturity onset diabetes of the young
  • Type III
    • Gestational diabetes mellitus

Secondary

  • Hormone induced states (rare):
    • Acromegaly
    • Cushing’s syndrome
    • Phaeochromocytoma
    • Glucagonoma

Drugs

  • Steroids
  • Contraceptive pill
  • Streptozotocin, Diazoxide, phenytoin, thiazide diurectics

Pancreatic disease

  • Chronic pancreatitis, carcinoma
  • Haemochromatosis (Bronze Diabetes)
  • Cystic Fibrosis

Syndromes

  • Lipoatrophic diabetes (characterized by generalized lipoatrophy, hepatomegaly, hirsutism, acanthosis nigricans, hyperpgimentation and hyperlipidaemia).


Glomerulonephritis

IgA nephropathy (Berger’s disease) (commonest cause worldwide)

Henoch-Schonlein Purpura (a systemic variant of IgA nephropathy)

Thin membrane nephropathy (autosomal dominant)

Minimal change disease (commonest cause in children.)


Focal segmental glomerulosclerosis

  • Primary (idiopathic)
  • Secondary
  • Reflux nephropathy
  • IgA nephropathy
  • Diffuse proliferative GN
  • Alport’s syndrome
  • Vasculitis
  • Sickle cell disease
  • HIV
  • Heroin use


Mesangiocapillary GN

  • Type I:
    • SLE
    • Post-strep
    • Endocarditis
    • Visceral abscess
    • Shunt nephritis
    • HBV, HCV
    • Leprosy
    • Schistosomiasis, filariasis
    • Mixed cryoglobulinaemia
    • Sickle cell disease
    • Carcinoma
    • Alpha-1-antitrypsin deficiency
    • Complement deficiency
  • Type II
    • Candidiasis
    • Partial lipodystrophy
    • Complement deficiency


Membranous nephropathy

  • Malignancy
  • Drugs: Gold, penicillamine, captopril
  • Autoimmune: RA, SLE, thyroid disease
  • Infections (HBV, syphilis, leprosy, filariasis


Proliferative GN

  • Post-streptococcal

Hepatomegaly

  • Malignant - metastases, hepatcellular CA, cholangiocarcinoma
  • Metabolic storage diseases – glycogen, amyloid, fat
  • Inflammatory – hepatitis, abscesses, parasites, etc
  • Cirrhosis (early)
  • Vascular – heart failure, pericarditis
  • Haematological – myelofibrosis, leukaemia


Splenomegaly

  • Trauma – rupture and subcapsular haematoma
  • Infection
    • Acute: infectious mononucleosis, infective endocarditis
    • Chronic: TB, Brucellosis, HIV, Malaria
  • Neoplastic
    • Mets: bronchial, breast, gut, prostate
    • Lymphomatous
    • Hodgkins, non-Hodgkins
  • Haematological
    • Leukaemia
    • Polycythaemia
    • Myelosclerosis
    • Haemolytic anaemia
  • Storage disorders
    • Gaucer’s disease
  • Portal hypertension
    • Liver disease
  • Cystic masses
    • Polycystic disease
    • Hydatid cyst
    • Developmental cysts
  • Other
    • Rheumatoid
    • Amyloid
    • Sarcoid
    • Collagen vascular diseases


Hepatosplenomegaly

Erythema Nodosum

Discrete tender red nodules on the shins: fever and arthralgia may be present

  • Streptococcal infection
  • Primary tuberculosis
  • Inflammatory bowel disease
  • Drug reaction (eg sulphur containing drugs)
  • Sarcoidosis – common in children, rare in adults
  • Idiopathic


Rashes, other

  • Erythema Marginatum - serpiginous border, central clearing
    • Rheumatic fever
  • Erythema Chronicum Migrans - lesions with central clearing, moves locations
    • Lyme Disease; Borrelia Burgdorferi from Tick bites


Cafe au Lait patches

Well demarcated macular lesions. <4 common in childhood (may develop during childhood).

  • Neurofibromatosis I (pre-pubertal: more than 5, >5mm) (Post-pubertal: more than 6 >10mm)
  • Neurofibromatosis II
  • Tuberous Sclerosis
  • McCune-Albright Syndrome
  • Russell-Silver Syndrome
  • Ataxia Telangiectasia
  • Fanconi Anaemia
  • Gaucher's Disease
  • Chediak-Higashi Syndrome
  • Epidermal naevus syndrome

Cyanosis, newborn

Developmental delay

Floppy Neonate

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