Short Cases Flashcards
Causes of hepatomegaly (SHIRT)
- Structural:
- biliary atresia, choledochal cyst, Alagille, polycystic disease, congenital hepatic fibrosis
- Storage/metabolic:
- GSD type 1, 3, 4, 6, lipid errors, carbohydrate errors, amino acid errors, Wilson’s disease, cystic fibrosis, alpha-1 antitrypsin deficiency, TPN
- Haematological:
- Thalassaemia, sickle cell, ALL, hodgkins
- Infection:
- EBV, CMV, hepatitis, TB, syphilis, parasitic infections
- Rheumatological:
- SLE, sJIA - Trauma:
- Hepatic haematoma
Causes of splenomegaly (CHIMPS)
- Cardiac - subacute bacterial endocarditis, connective tissue (sJIA, SLE)
- Haematological - hereditary spherocytosis, G6PD deficiency, beta thalassemia major
- Infection - EBV, CMV, bacterial, SBE, typhoid
- Malignancy - leukaemia, lymphoma
- Portal hypertension
- Storage disease - Gaucher, Niemann-Pick
Causes of hepatosplenomegaly
- Congenital hepatic fibrosis
- Thalassaemia
- Infection: EBV and TORCH
- Malignancy: leukaemia and lymphoma
- Storage diseases: Gaucher (long term), Niemann-Pick, MPSs
- Chronic hepatic disease leading to portal hypertension
Causes of unilateral renal flank mass
- Tumour e.g. Wilm’s, neuroblastoma, adrenal cell carcinoma
- Hydronephrosis
- Hypertrophied solitary kidney
- Renal cyst
- Renal vein thrombosis
Causes of bilateral renal flank masses
- Polycystic kidney disease (AR or ADPKD)
- Hydronephrosis: posterior urethral valves, VUR, neurogenic bladder
- Tumour: WIlms, leukaemia, lymphoma, tuberous sclerosis complex
- Metabolic: GSD type 1 (A+B), tyrosinaemia type 1
Causes of ascites
- Hepatic - liver failure, portal HTN
- Renal - nephrotic syndrome, CKD
- Cardiac - cardiac failure, IVC obstruction, Budd-Chiari syndrome
- Gastrointestinal - protein-losing enteropathy (coeliac, IBD), intestinal lymphaengectasis
- Lymphatic - acquired chylous ascites (thoracic duct obstruction)
- Infection - chronic TB peritonitis
Causes of conjugated hyperbilirubinaemia
- Sick child: inborn errors of metabolism, sepsis, liver failure
- Well child: biliary disease and hepatocellular disease
Causes of obstructive jaundice with hepatomegaly
- Biliary atresia
- Alagille syndrome
- Alpha 1 antitrypsin deficiency
- Ex-prem eg IFALD, TPN use
- Endocrine/metabolic: panhypopituitarism, galactosemia, tyrosinaemia, cystic fibrosis
- Choledochal cyst
- Infection: echovirus 11, TORCH
Jaundice and cardiac issues are associated in …?
- Alagille: PIBD and pulmonary artery stenosis
Dysmorphology: causes of short stature
- Turners - female, webbed neck, widely spaced nipples, increased carrying angle
- Noonans - male or female, low-set ears, pulmonary stenosis, webbed neck
- Williams - elfin-like facies, wide mouth, cocktail personality, supravalvular aortic stenosis
- Russell Silver syndrome - petite, elf-like features
- Fanconi anaemia - thumb/radial abnormality, short stature
- Skeletal dysplasias
Dysmorphology: causes of tall stature
- Marfan’s - hyperextensibility, pes cavus, aortic root dilation, increased LS ratio, long arms, lens dislocation up
- Homocysteinuria - stiff, lens dislocation down, low IQ
- Klinefelter’s - tall stature, euchnoid habitus, hypogonadism
- Sotos syndrome - coarse facial features
- Beckwith-Wiedemann - hemihypertrophy, large tongue, overgrowth, umbilical hernia
Dysmorphology: causes of obesity
- Prader-Willi
- Bardet Biedl - renal issues, polydactyl, low IQ
Dysmorphology: causes of pubertal delay
- Klinefelter’s - tall stature, euchnoid habitus, hypogonadism
- Prader-Willi - obesity, hypotonic infant, hypogonadism
- Turner’s - ovarian dysgenesis, short stature, webbed neck, wide carrying angle, widely spaced nipples
Dysmorphology: causes of aortic stenosis
- William’s - supravalvular aortic stenosis, elfin-facies, short stature, wide mouth, cocktail personality
Dysmorphology: causes of pulmonary stenosis
- Noonan’s - pulmonary stenosis
- Alagille - peripheral pulmonary stenosis, small triangular face, pointed chin, jaundice, abnormal intrahepatic bile ducts
- William’s - elfin facies, supravalvular aortic stenosis, pulmonary stenosis, wide mouth, cocktail personality
Dysmorphology: causes of conotruncal/AVSD
- 22q11 - conotruncal, cleft palate, learning difficulties
- Down syndrome - epicanthic folds, flattened nasal bridge, upturned nose, upslanting palpebral fissures, single palmar crease, AVSD/VSD, duodenal atresia
- Turners - coarctation of the aorta, short stature, webbed neck, widely spaced nipples, increased carrying angle
Dysmorphology: causes of aortic dilation
- Marfan’s - tall stature, hypermobility, chest wall abnorm, high arched palate, increased LS ratio and arm span, lens dislocation upwards
- Homocysteinuria - tall stature, stiff, low IQ, lens dislocation downwards, aortic root dilation
- Ehler’s Danlos - aortic root dilation, hypermobility, increased Beighton score, subluxation/dislocation, skin issues
Dysmorphology: causes of radial ray abnormalities
- Fanconi anaemia - short stature, cafe au lait, thumb/radial abnormalities
- VACTERL
- Thrombocytopenia absent radius (TAR) syndrome
- Blackfan Diamond
Dysmorphology: causes of deafness
- Goldenhar
- CHARGE
- Waardenburg
- Treacher Collins
- Alport - haematuria, renal failure
- NF-2 - acoustic schwannoma
Dysmorphology: causes of cleft lip and palate
- 22q11 - clef palate (not lip), conotruncal abnormalities
- Isolated anomaly
- Stickler syndrome
Dysmorphology: causes of cafe au lait macules
- NF1 - cafe au lait, neurofibromas, plexiform fibroma, scoliosis, lisch nodules, axillary freckling, orbital glioma
- Noonan
- LEOPARD syndrome - now called Noonans with multiple lentigines
- Legius syndrome
- Fanconi anaemia
- Isolated/normal population
- Mc-Cune Albright - large “Coast of Maine” cafe au lait, precocious puberty in females due to ovarian tumour, polyostotic fibrous dysplasia, facial asymmetry, scoliosis
Causes of right thorcotomy scars
- Shunts (e.g. BT shunt if absent pulses same side)
- Chest drain
- Lung operations
- Tracheoesophageal repairs
Causes of left thoracotomy scars
- Coarctation repairs
- Shunts (modified BT)
- PDA repair/ligation
- Pulmonary artery banding
- Lung operations
- Chest drain
Causes of central sternotomy scars
- All repairs/any bypass surgery: palliative, corrective, non-bypass, tracheoesophageal fistula