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Contents 1 Retinitis Pigmentosa 2 Clubbing 3 Short stature 4 Jaundice, neonatal 4.1 Unconjugated hyperbilirubinaemia 4.2 Conjugated hyperbilirubinaemia 4.2.1 Hepatic 4.2.2 Post-hepatic 5 Diabetes Mellitus 6 Glomerulonephritis 7 Hepatomegaly 8 Splenomegaly 9 Hepatosplenomegaly 10 Erythema Nodosum 11 Rashes, other 12 Cafe au Lait patches 13 Cyanosis, newborn 14 Developmental delay 15 Floppy Neonate 16 Add further titles for lists here ....

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
  • Turner's
  • Noonan's
  • Down's
  • Russell Silver
• 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

• Biliary Atresia
• Biliary duct obstruction
  • Choledochal cyst

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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