GARGOYLISM

Gargoylism, currently referred to as Hurler’s syndrome, is an uncommon hereditary illness caused by a deficiency in mucopolysaccharide processing, a kind of carbohydrate that binds water to connect cells and lubricate bones. This type of illness causes an abnormal buildup of complex carbohydrates in kids’ cells, affecting many of their body’s processes.

Aside from their body’s processes, children affected with this disease also develop complications with their growth, along with their learning and cognition. Moreover, gargoylism is often identified within two years of infancy; a child at such an age needs intensive care and seldom survives adolescence. The most common cause of death is cardiac arrest, which is caused by mucopolysaccharide invasion of the heart tissue and coronary arteries.

SYMPTOMS

Infants born with a less severe variant of gargoylism may not have had any signs or indicators of the condition at all when they are born. Others with severe illness may have clinical signs even before they reach adulthood.

Symptoms range from mild to severe. Some kids just experience a few minor side effects. Other kids suffer from serious disease consequences.

Among the signs and symptoms are:

  • the front half of the eye becomes cloudy (corneal clouding)
  • upper respiratory diseases usually occur
  • tonsillitis and adenoids become swollen
  • distinct face characteristics (coarse facial features)
  • hernias

Other signs and symptoms that infants may develop over time involve:

  • heart valve enlargement and malfunction
  • abnormal spine bending (scoliosis, kyphosis)
  • a rise in the kidney and liver’s thickness (hepatosplenomegaly)
  • fluid accumulating around the head (hydrocephalus)
  • spinal cord torsion
  • progression of neurological deterioration

DIAGNOSIS

A comprehensive clinical assessment and analysis of urine GAG concentrations, a good screening test, is used to diagnose this illness. However, a positive test implies that a gargoylism exists, and false-negative results are common.

Other tests that could be performed based on your symptoms involve:

  • ECG
  • genetic screening for alpha-L-iduronidase (IDUA) gene mutations
  • additional mucopolysaccharides in urine samples
  • spinal X-ray

TREATMENT

Enzyme replacement therapy, bone marrow transplantation, hematopoietic stem cell transplantation, and focused symptom control are some of the current treatments for Gargoylism. Treatment regimens necessitate interdisciplinary teamwork and are heavily influenced by your child’s age and the nature of the sickness. Other therapies are determined by which organs are damaged.

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