AMAZIN CASES

AMAZING MEDICAL CASES : # 1

Introduction
Also known as Hutchinson-Gilford Progeria Syndrome (HGPS). Derived from the words pro = advanced, preceding and geria = ageing, old age.

Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford.

Is a rare progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. Children with progeria, generally appear normal at birth. By 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live 20 years or longer.

Heart problems or stroke is the eventual cause of death in most children with progeria.

Aetiology
Researchers have discovered a single gene mutation responsible for Hutchinson-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary to holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.

Unlike many genetic mutations, Hutchinson-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).

In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom)rather than the uniform shape typically found in healthy individuals (top).

Signs & Symptoms
Usually within the first year of life, growth of a child with progeria slows markedly so that height and weight fall below average for his or her age, and weight falls low for height. Motor development and mental development remain normal.

Signs and symptoms of this progressive disorder include:

• Slowed growth, with below-average height and weight
• A narrowed face and beaked nose, which makes the child look old
• Hair loss (alopecia), including eyelashes and eyebrows
• Hardening and tightening of skin on trunk and extremities (scleroderma)
• Loose, aged-looking skin
• Head too large for face
• Prominent scalp veins

• Prominent eyes
• Small lower jaw (micrognathia)
• High-pitched voice
• Delayed and abnormal tooth formation
• Loss of body fat and muscle
• Stiff joints
• Hip dislocation

Treatment
There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.

Certain therapies may ease some of the signs and symptoms. They include:

• Low-dose aspirin. A daily dose may help prevent heart attacks and stroke.
• Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active.
• High-calorie dietary supplements. Including extra calories in your child's daily diet may help prevent weight loss and ensure adequate nutrition.
• Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed.
• Extraction of primary teeth. Your child's permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.

Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria.