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Harrington Syndrome

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Harrington syndrome also called as DiGeorge syndrome is a congenital immunodeficiency characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcaemia, cognitive, behavioral, and psychiatric problems, and increased susceptibility to infections.

 

Causes

  • Harrington syndrome is found to have a microdeletion of 22q11.
  • Particularly affecting development of the third and fourth branchial pouches (pharyngeal pouches).
  • This affects the thymus gland and parathyroid glands, responsible for regulation of blood calcium levels.
  • It’s inherited as autosomal dominant, autosomal recessive and X-linked fashions.

Signs and symptoms

  • Endocrine- Hypoparathyroidism leading to hypocalcaemia usually begins in the neonatal period, occasionally manifesting in the form of tetany or tonic convulsions.
  • Palatal abnormalities- cleft palate, submucosal cleft palate, and velopharyngeal incompetence
  • Cardiac manifestations- The most common cardiac anomalies included tetralogy of fallot, ventricular septal defect, pulmonary atresia/ventricular septal defect and truncus arteriosus.
  • Immunology- Thymic hypoplasia or aplasia leading to defective T-cell function is the hallmark of DiGeorge anomaly.
  • Hearing loss- conductive and sensorineural hearing loss
  • Other manifestations- growth retardation, behavioral, psychiatric, , communication disorders, and significant feeding problems
  • Infections- Increased susceptibility to infections like pneumocystis carinii, fungal infections and viral infections
  • Association with other autoimmune disease- Graves disease, rheumatoid arthritis, and immune thrombocytopenic purpura

Tests and diagnosis

  • Micro deletion of chromosomes can usually be detected in 2-3 days by fluorescent in situ hybridization (FISH) and rapid PCR techniques
  • Assessment of parathyroid function – Low calcium levels
  • Lateral view of chest X-ray- Thymic aplasia or hypoplasia
  • 2D- echo to detect cardiac anomolies

Treatment

Hypoparathyroidism and hypocalcemia are managed with calcium and vitamin D administration.

Treatment of immunodeficiency- Early thymus transplantation (ie, before the onset of infectious complications) may promote successful immune reconstitution.

Surgical care- Correct cardiac malformations per standard surgical techniques. Obtain early consultation with a cardiologist and immunologist to evaluate disease manifestations.

 

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