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Differential diagnosis > Paediatric > Flashcards

Flashcards in Paediatric Deck (28):

Neonatal lung disease with low lung volumes

1. Surfactant deficiency (respiratory distress syndrome)
2. Beta-haemolytic streptococcal pneumonia
3. Pulmonary hypoplasia
Additional diagnostic considerations:


Neonatal lung disease with increased lung volumes

1. Transient tachypnea of the newborn
2. Meconium aspiration
3. Neonatal pneumonia
Additional diagnostic considerations:
1. Congenital heart disease


A cyanotic infant with decreased pulmonary flow

1. Tetralogy of Fallot
2. Pulmonary atresia
3. Tricuspid atresia
Additional diagnostic considerations:
1. Double outlet right ventricle
2. Ebstein anomaly


A cyanotic infant with increased pulmonary vascularity

1. Transposition on the great arteries
2. Truncus arteriosus
3. Total anomalous pulmonary venous return
Additional diagnostic considerations:
1. Tricuspid atresia
2. Single ventricle


Paediatric shunt vascularity

1. Ventricular septal defect
2. Atrial septal defect
3. Patent ductus arteriosus
Additional diagnostic considerations:
1. Atrioventricular canal defect


A paediatric solid pulmonary mass

1. Round pneumonia
2. Congenital cystic adenomatoid malformation
3. Sequestration
Additional diagnostic considerations:
1. Bronchogenic cyst
2. Plasma cell granuloma


A liver mass in an infant

1. Hepatoblastoma
2. Haemangioendothelioma
3. Mesenchymal hamartoma
Additional diagnostic considerations:
1. Metastatic disease
2. Abscess
3. Haematoma


A suprarenal mass in a child

1. Neuroblastoma
2. Adrenal haemorrhage
3. Pheochromocytoma
Additional diagnostic considerations:
1. Subdiaphragmatic sequestration
2. Congenital adrenal hyperplasia
3. Adrenal cortical carcinoma


A paediatric solid renal mass

1. Wilms tumour
2. Mesoblastic nephroma
3. Nephroblastomatosis
Additional diagnostic considerations:
1. Lymphoma
2. Renal cell carcinoma


A paediatric cystic renal lesion

1. Hydronephrosis
2. Multicystic dysplastic kidney
3. Multilocular cystic nephroma
Additional diagnostic considerations:
1. Cystic Wilms tumour
2. Polycystic kidney disease
3. Renal abscess


A paediatric subglottic narrowing

1. Laryngotracheobronchitis (croup)
2. Epiglottitis
3. Retropharyngeal abscess
Additional diagnostic considerations:
1. Bacterial tracheitis
2. Aspirated FB
3. Haemangioma


A distal bowel obstruction in a neonate

1. Functional immaturity of the colon
2. Hirschsprung disease
3. Ileal atresia/stenosis
Additional diagnostic considerations:
1. Meconium ileus
2. Anal atresia-anorectal malformations


Bowel wall thickening in an immunocompromised child

1. Pseudomembranous colitis
2. Neutropenic colitis/thyphlitis
3. Graft versus host disease
Additional diagnostic considerations:
1. Post-transplant lymphoproliferative disorder
2. Shock bowel


Skeletal dysplasia in a child

1. Achondroplasia
2. Thanatophoric dysplasia
3. Jeune syndrome
Additional diagnostic considerations:
1. Ellis-van Creveld syndrome
2. Chondrodysplasia punctata


The double-bubble sign in a child

1. Malrotation with mid-gut volvulus
2. Duodenal atresia/stenosis
3. Annular pancreas
Additional diagnostic considerations:
1. Duodenal web
2. Pre-duodenal portal vein


Posterior vertebral body scalloping in a child

1. Dural ectasia (connective tissue disorders & neurofibromatosis)
2. Mucopolysaccharidosis
3. Dwarfism/Achondroplasia
Additional diagnostic considerations:
1. Spinal tumour
2. Normal variant


A pre-sacral mass in a child

1. Sacrococcygeal teratoma
2. Anterior meningocele
3. Rectal duplication cyst
Additional diagnostic considerations:
1. Lymphangioma
2. Germ call tumour
3. Adnexal mass


A long bone aggressive lesion in a child

1. Osteosarcoma
2. Ewing sarcoma
3. Osteomyelitis
Additional diagnostic considerations:
1. Langerhans cell histiocytosis
2. Metastatic disease


An endobronchial lesion in a child

1. Foreign body
2. Papiloma
3. Carcinoid tumour
Additional diagnostic considerations:
1. Inflammatory polyp
2. Salivary gland neoplasm


An Erienmeyer flask deformity in a child

1. Osteopetrosis
2. Fibrous dysplasia
3. Gaucher disease
Additional diagnostic considerations:
1. Haemoglobinopathy
2. Multiple hereditary exostoses


A lytic skull lesion in a child

1. Langerhans cell histiocytosis
2. Epidermoid cyst
3. Neoplasm (leukaemia & Ewing sarcoma & neuroblastoma & metastatic disease)
Additional diagnostic considerations:
1. Infection/osteomyelitis
2. Leptomeningeal cyst


Avascular necrosis of the femoral head in a child

1. Leg-Calve-Perthes
2. Trauma
3. Sickle cell disease
Additional diagnostic considerations:
1. Corticosteroid use
2. Gaucher disease
3. Meyer dysplasia


A vascular anomaly with eosophageal and tracheal compression in a child

1. Aberrant right subclavian artery
2. Double aortic arch
3. Right aortic arch with aberrant left subclavian artery
Additional diagnostic considerations:
1. Pulmonary sling
2. Inominate artery compression syndrome


A cystic pulmonary mass in a child

1. Congenital lobar emphysema
2. Congenital cystic adenomatoid malformation
3. Congenital diaphragmatic hernia
Additional diagnostic considerations:
1. Necrotizing pneumonia


An eosophageal obstruction in a neonate

1. Tracheoesophageal fistula/Oesophageal atresia
2. Foreign body
3. Eosophageal duplication cyst
Additional diagnostic considerations:
1. Vascular ring


Thinning of the calvaria and decreased calvarial density both generalised and local

1. Osteogenesis imperfecta
2. Achondrogenesis
3. Hypophosphatasia
Additional diagnostic considerations:
4. Menkes syndrome which in addition will have mental retardation, micrognathia, metaphyseal spurs (most obvious in the femora), urinary tract abnormalities and high serum copper levels

1. Lacunar skull (associated with neural tube defects, especially myelomeningocele with Chiari II malformation, and less commonly with encephalocele


Increased calvarial bone density both generalised and local

Sclerosing bone dysplasias:
1. Osteopetrosis
2. Pyknodysostosis
3. Craniodiaphyseal dysplasia

1. Frontometaphyseal dysplasia (mandibular spur, prominence of the supraorbital ridges, restricted thoracic expansion, sternal deformity, arachnodactyly, “coat hanger” configuration of the ribs, coxa valga and joint contractures)
2. Craniometaphyseal dysplasia (sclerosis is confined to the frontal bone, nasion, and mandible)


What is CHARGE syndrome

Describes a combination head and neck, cardiac, CNS and genitourinary disorders first coined by R A Pagon in 1981.

C: coloboma
H: heart defects (congenital heart disease)
A: atresia (choanal)
R: retardation (mental)
G: genital hypoplasia
E: ear abnormalities/deafness

Occurs due to disturbance in embryonic differentiation 35th to 45th day of gestation.

Most cases are sporadic but there are occasional autosomal dominant forms. Approximately two-thirds caused by a defect in CHD7 gene on chromosome 8.

Definite CHARGE syndrome: 4major characteristics or 3 major characteristics and 3 minor characteristics

Major criteria:
1. Coloboma (85%)
2. Choanal atresia/stenosis (55%) (or cleft palate)
3. Cranial nerve dysfunction, e.g. facial palsy (40%), dysphagia (80%)
4. Ear (some or all of the following)
atretic outer ear
ossicular chain malformation
Mondini malformation
absent/hypoplastic semicircular canals

Minor criteria:
Genital hypoplasia
Developmental delay
Congenital heart disease, e.g. tetralogy of Fallot
Short stature
Cleft palate +/- lip
Oesophageal atresia / tracheo-oesophageal fistula (15%)
Characteristic facies

1. Microphthalmia/anophthamia
2. Intra-uterine growth retardation (IUGR)
3. Congenital renal anomalies