Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease is a hereditary condition affecting adults characterised by bilateral, multiple renal cysts with hallmark mutations...
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Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease typically presents in neonates or infants with massive, bilaterally enlarged kidneys demonstrating microcystic changes and... -
Hodgkin Lymphoma
Hodgkin lymphoma is a B-cell lymphoma most common in young or HIV-positive adults, classically characterised by Reed-Sternberg cells and typically... -
Branchial Cleft Anomalies
Branchial cleft anomalies are congenital lesions that arise due to an incomplete obliteration of the branchial clefts and pouches during... -
Neurocysticerosis
Most common parasitic CNS infection, Taenia solium in uncooked pork (intermediate host) Cyst with a dot, usually parenchymal, causing seizures.... -
Aneurysmal Bone Cyst
Aneurysmal bone cysts are benign neoplasms affecting long bone metaphyses commonly affecting adolescents and young adults, characterised histologically by blood-filled,... -
Ewing Sarcoma
Ewing sarcoma is a highly aggressive, small round blue cell tumour affecting primarily adolescents and young adults, often characterised by... -
Central Neurocytoma
Central neurocytoma is a rare intraventricular WHO grade II tumour, typically affecting young adults, characterised by cells mimicking neurons, and... -
Neuroblastoma
Neuroblastoma is an aggressive tumour typically arising from adrenal glands in young children, characterised by small, round, blue cells, and... -
Viral Encephalitis
Viral encephalitis is a serious inflammatory condition, commonly due to HSV1 typically affecting the temporal lobes, characterised by necrotising haemorrhagic... -
Turner Syndrome
Turner Syndrome is hypogonadism in phenotypica females due to partial or complete absence of one X chromosome, leading to short... -
Cystic Fibrosis
Cystic fibrosis is usually seen in Caucasians in early childhood, typified by an autosomal recessive delta 508 mutations in the... -
Down Syndrome
Down syndrome, typically caused by a meiotic nondisjunction event resulting in trisomy 21, characteristically presents with intellectual disability, characteristic facial... -
Carney’s Triad
Carney Triad is a rare, non-heritable syndrome typically presenting in young females. It comprises of gastrointestinal stromal tumours (GISTs), pulmonary... -
Rheumatic Heart Disease
Rheumatic heart disease, typically seen in developing countries among children and young adults, is characterised by chronic valvular inflammation secondary... -
Sickle Cell Disease
Sickle cell disease, common in individuals of African descent, is an autosomal recessive genetic disorder characterised by the production of... -
Gaucher Disease
Gaucher disease, a lysosomal storage disorder common in Ashkenazi Jewish population, is characterised by autosomal recessive inheritance of a deficiency... -
Precocious Puberty
Precocious puberty refers to the onset of secondary sexual characteristics before the age of 8 in girls and 9 in... -
Wilson Disease
Wilson’s disease, a rare autosomal recessive disorder common in populations with high rates of consanguinity, leads to abnormal copper metabolism... -
Neurosarcoidosis
Neurosarcoidosis refers to the involvement of the central nervous system (CNS) in sarcoidosis, a systemic non-caseating granulomatous disease of unknown... -
Alport Syndrome
Alport syndrome is an X-linked recessive hereditary nephritis due to type IV collage defect in the GBM often accompanied by... -
Omphalocele
Omphalocele is a congenital midline abdominal wall defect, typically presenting at birth with herniation of abdominal organs into a sac... -
Gastroschisis
Gastroschisis is a congenital abdominal wall defect typically occurring to the right of the umbilicus, presenting with evisceration of the... -
Thyroglossal Duct Cyst
Thyroglossal duct cysts, typically seen in paediatric populations, are the most common congenital anomaly in the neck, originating from remnants... -
Ranula
Ranulas are mucous extravasation cysts typically presenting in young adults, arising from the sublingual gland, characterised by the presence of... -
Schwannoma
Schwannoma, known less commonly as neurilemmoma, is a benign peripheral nerve sheath tumour that originates from Schwann cells, which produce... -
Neurofibroma
Neurofibroma is a benign peripheral nerve sheath tumour, typically affecting young adults, associated with neurofibromatosis type 1, characterised by a... -
Li-Fraumeni Syndrome
Li-Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome associated with TP53 mutation. Li-Fraumeni Syndrome (LFS) is an inherited genetic... -
Meningitis
Meningitis is an acute or chronic inflammatory condition characterised by infiltration of the pia, arachnoid, and cerebrospinal fluid (CSF). The... -
Meckel’s Diverticulum
Meckel’s diverticulum typically presents in children with painless rectal bleeding, and appears as a small outpouching on the antimesenteric border... -
Paraganglioma
Paraganglioma typically presents in adults aged 30-50 years, often with symptoms related to catecholamine secretion or mass effect; pathologically, it... -
Pituitary Macroadenoma
Pituitary macroadenoma is the most common benign suprasella tumour in adults, usually presenting as hormonal imbalances or visual disturbances due... -
Necrotising Enterocolitis
Necrotising enterocolitis is a life-threatening gastrointestinal emergency with high mortality rate almost exclusively affecting neonates, characterised by inflammation and necrosis... -
Creutzfeldt-Jakob Disease
Creutzfeldt-Jakob Disease is a rapidly progressive fatal neurodegenerative disease caused by prion accumulation causing spongiform brain appearance and is characterised... -
Dysembroplastic Neuroepithelial Tumour
Dysembryoplastic neuroepithelial tumours are WHO grade 1 glioneuronal tumours mostly seen in children and young adults with a long history... -
Meconium Plug Syndrome
Meconium plug syndrome, also referred to as functional immaturity of the colon or transient colonic hypoganglionosis, is a condition observed... -
Ovarian Torsion
Ovarian torsion is a gynaecological emergency presenting as acute onset lower abdominal pain, an enlarged, oedematous ovary with peripherally displaced... -
Scimitar Syndrome
Scimitar syndrome usually presents in a child with recurrent respiratory infections, heart murmur, and dyspnea on exertion, due to partial... -
Pulmonary Surfactant Deficiency Disease
Pulmonary surfactant deficiency occurs in premature neonates, caused by atelectasis due to insufficient surfactant production by type II pneumocytes, which... -
Congenital Pulmonary Airway Malformation
Most common foetal lung mass. Usually incidental, no genetic cause. Solid-appearing (microcystic) to multilocular cystic (macrocystic) lesion Supplied by pulmonary... -
Solid Pseudopapillary Neoplasm
“Daughter” lesion, young asymptomatic non-Caucasian women Solid/cystic/necrotic/haemorrhagic encapsulated mass, pancreatic tail. Low-grade malignant potential (liver mets.). Good surgical outcome. Solid... -
Congenital Pyriform Aperture Stenosis
Newborn with difficulty breathing whilst feeding Narrowed nasal pyriform aperture Single central maxillary incisor, holoprosencephaly Congenital Pyriform Aperture Stenosis (CPAS)... -
Sinonasal Polyposis
Sinonasal polyposis (SNP) refers to the formation of benign, non-cancerous, inflammatory growths within the nasal passages and sinuses. These polyps... -
Typhilitis
Polymicrobial infiltration of the colonic wall in severely neutropenic patients. Luminal narrowing and wall thickening of the cecum and ascending... -
Glomus Jugulare
Pulsatile tinnitus and conductive hearing loss. MEN I & II. Aggressive-appearing hypervasular jugular fossa soft-tissue mass extending into middle ear... -
Thyroglossal Duct Cyst
Anterior midline well-defined cystic mass, may contain thyroid tissue Small risk of malignant transformation usually to papillary thyroid carcinoma Thyroglossal... -
Congenital Haemangioma
Vascular tumour present at birth Well-circumscribed, hypervascular mass with variable involution over time. Congenital haemangiomas are benign vascular tumours present... -
Moyamoya Disease
A patient, typically a child or young adult, presenting with transient ischemic attacks (TIAs), strokes, or headache, characterised by a... -
Intracranial Dermoid Cyst
Congenital ectodermal inclusion cyst, usually midline in sellar, parasellar and frontonasal regions Rupture (scattered fat droplets throughout subarachnoid space) can... -
Stress Fracture
A stress fracture is a small, incomplete fracture or severe bone injury that occurs due to repetitive loading, overuse, or... -
Kawasaki Disease
Kawasaki disease (KD), also known as mucocutaneous lymph node syndrome, is an acute, self-limited vasculitis of unknown origin, that predominantly... -
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma (JNA) is a benign but locally aggressive vascular tumour that originates in the nasopharynx. It is characterised... -
Paediatric Presacral Masses
View Orientation Density Size Download Adapted from Kocaoglu and Frush, 20061 Paediatric Presacral Mass Congenital and developmental masses Germ cell... -
Plantar Fibromatosis
Plantar fibromatosis, also known as Ledderhose disease, is a benign fibroproliferative condition involving the plantar aponeurosis of the foot. It... -
Enostosis
Enostosis, also referred to as a bone island, is a benign, asymptomatic focus of compact (cortical-type) bone within cancellous (trabecular)... -
Hepatic Mesenchymal Hamartoma
Benign, complex multicystic mass with poor enhancement Mix of mesenchymal and epithelial elements Present before 2 years of age Hepatic...