Section Mirizzi syndrome 25 Dec 202118 Dec 2021 Common bile duct narrowing and fibrosis due to chronic gallstone diseaseStone usually impacted in gall bladder neck, cystic duct or cystic duct remnantFistula can develop between gall bladder or cystic…
Section de Morsier syndrome 13 Dec 202112 Dec 2021 HypopituitarismOptic nerve hypoplasiaAbsence of septum pellucidum
Section Erdheim-Chester disease 7 Nov 2021 Rare form of histiocytosisMean age 55 - 60 yearsM:F = 3:1Skeletal involvement 95%Cardiovascular involvement 50%Retroperitoneal fibrosis 30%CNS involvementDiabetes insipidusExophthalmos Imaging Bilateral, symmetrical cortical/medullary sclerosis of major long bone metadiaphyses with…
Section West syndrome 3 Sep 202123 Oct 2021 Triad of myoclonic seizureshypsarrhythmic electroencephalogramdevelopmental delay
Section Turner syndrome 29 Aug 20217 Sep 2021 monosomy 45, XO1 in 3000-5000skeletal growth arrest at 15 years Cardia coarctationaortic stenosisidiopathic hypertensionlymphangiectasia, generalized hydros head and neck webbed neckhigh palatelow irregular nuchal line nuchal cystic hygroma endocrine thyromegalypigmented…
Section Bonnevie-Ullrich syndrome 29 Aug 20217 Sep 2021 infantile form of Turner syndromecongenital webbed neckwidely separated nippleshand and feet lymphedema
Section Williams syndrome 29 Aug 20217 Sep 2021 idiopathic hypercalcemia of infancyneonatal hypercalcemia MSK osteosclerosisdense broad zone of provisional calcificationbone islands in spongiosadense vertebral end platesradiolucent metaphyseal bandscraniosynostosis Cardio supravalvular aortic stenosisaortic hypoplasiavalvular pulmonary artery stenosisASDVSD Abdomen colonic…
Section Joubert syndrome 28 Aug 20217 Sep 2021 total aplasia of cerebellar vermisfailure of formation of decussation of superior cerebellar peduncleslack of pyramidal decussationsother anomalies of midbrain crossing tracts and their nucleiassociated anomalies: renal cysts, ocular abnormalities, liver…
Section Carney complex 10 Jul 20217 Sep 2021 autosomal dominantmyxoma (heart, breast, skin)abnormal skin pigmentationendocrine abnormalities: primary pigmented nodular adrenocortical disease leading to ACTH- independent Cushing's syndrome