An A-Z of Rare, odd and difficult to remember diagnoses.
Instructions
Start all sections with the AAAAAA or BBBBBB etc.
For tagging use: [#mytag]()
The Table
| Name | Clinical | Pathology | Radiology |
|---|---|---|---|
| AAAAAAA | |||
| Alagille Syndrome ALGS |
Muiltisystem but Hepatic = Bile duct paucity. Cardiac = Pulmonary stenosis & Tetralogy of Fallot MSK = Butterfly vertebrae. Insuff #. Characteristic Facies Eye = Posterior embryotoxin (80% vs 10% popln) Other = Renal dysplasia inter alia. Vascular lesions. Growth failure. Mild LD. |
JAG1 recessive. 96% penetrance Also NOTCH2 mutation but rarer. 1 in 30-50k births |
| Name | Clinical | Pathology | Radiology |
|---|---|---|---|
| BBBBBBBB | |||
| Beckwith-Wiedemann Syndrome BGS |
Multisystem, genetic with Growth = Macroglossia(90%), macrosomia(50%) & Hemihypertrophy (50%). Organomegaly (Renal 40%,Hepatic 35%,Spleen 15%) Abdominal Wall = Omphalocele(44%), Umbilical Hernia/Diastasis(40%) Embryonal Tumours = Risk dependent on type of mutation.Wilms in first 7ys, hepatoblastoma in first 3ys. But also NBL, RMS and adrenocortical carcinoma. Endocrine = Neonatal hypoglycaemia. Hypercalciuria. Renal = Range inc Dysplasia, nephrocalcinosis, duplex, MSK ia. Others = Several general uncommon. Ear pits/lob creases etc are common. |
>80% identified looking for 5 alterations: 4 mutations: Loss of methylation at the IC2 on maternal chromosome(50%), Gain of methylation of IC1 on maternal chromosome, Paternal uniparental disomy (UPD) of 11p15.5 (=both copies come from Dad), Heterozygous pathogenic variant on maternal CDKN1C or Genomic variants involving chromosome 11p15.5. |
Risk of malignancy and thus need for screening is limited to specific phenotypes and varies between the type of tumour. Biggest risk comes from Gain of methylation at IC1 maternal (= 29% risk of Ca) |
| Name | Clinical | Pathology | Radiology |
|---|---|---|---|
| SSSSSSSSS | |||
| Sotos Syndrome |