Zieve's syndrome

Clinically encountered acute metabolic condition in alcoholic fatty liver and cirrhosis 

Clinical triad 

• Jaundice 
• Hyperlipidemia 
• Haemolytic anaemia

Zollinger-Ellison syndrome (ZES)

Inheritance : Sporadic or Autosomal dominant associated with multiple endocrine neoplasia type 1 (MEN 1)

• Multiple atypical often recurrent peptic ulcer 
• Non–beta islet cell, gastrin-secreting tumor of the pancreas : Hypergastrinemia 
• Increased gastric levels, positive secretin stimulation and calcium infusion test, abdominal CT can detect this syndrome 

Treatment 

• Proton pump inhibitors : mainstay 
• Surgery : severe cases

Denys-Drash syndrome (DDS)

Etiology : Mutations in Wilms tumor suppressor (WT1) gene.

 
·      Congenital nephropathy : diffuse mesangial sclerosis
 
·      Wilms tumor
 
·      Intersex disorders resulting 

Down's syndrome

Etiology

Trisomy 21 : 95%

Translocation or mosaicism : 3-5%

Features 

• Mental retardation 
• Characteristic face : Large tongue, slanting eyes, abnormal teeth
• Brush field spots on iris
• Congenital heart lesions 
• Single simian crease 
• Cataract 

Diagnosis 

1st and 2nd trimester diagnostic options 

• Combined test  : Ultrasound to measure nuchal translucency + blood tests (beta-hCG and Pregnancy Associated Plasma Protein A : PAPP-A)
• Quad screen : Measures maternal serum alpha-fetoprotein, unconjugated estriol, hCG, and inhibin-A.
• Integrated test : Combination of the quad screen,PAPP-A, and nuchal translucency 
• Cell-free fetal DNA : blood obtained by venipuncture in mother 

3rd trimester : Ultrasound 

Gardner's Syndrome

Inheritance : Autosomal dominant

Features

• Colonic polyposis : presents as bloody diarrhoea(common presentation)

• Tumors of bone and soft tissues