LEOPARD syndrome

  • Multiple lentigines syndrome; cardia-cutaneous syndrome.

INCIDENCE

  • This is an extremely uncommon condition, the exact incidence of which is unknown; however, the scientific literature has described 70 cases of the condition. It can have an impact on both males and females.
  • This syndrome is also considered to be an association of abnormalities that specifically affect different parts of the body.
  • The acronym for this association is LEOPARD, which stands for lentigines (small dark brown spots), ocular features, pulmonary stenosis, abnormalities of the genitalia, growth retardation, and deafness.
  • The name is also used to describe the large number of small dark brown spots that can be found all over the body of the animal, which are reminiscent of the spots that a leopard would have.

HISTORY

  • The first description of this syndrome was made in the late 1960s.

CAUSATION

  • The LEOPARD syndrome is an autosomal dominant trait that is passed down through families.
  • The degree of expressivity varies from person to person, with some members of the family being more affected than others.
  • It is possible for parents who are affected less severely to have children who are affected more severely and vice versa (cf. neurofibromatosis).

CHARACTERISTICS

  • Lentigines, which are small spots that are dark brown in color, can be found all over the body and face of a person who has LEOPARD syndrome.
  • These may be present at birth, or they may become noticeable gradually over the course of the first three or four years of a person's life.
  • At the age of five, these marks are abundant almost everywhere, with the exception of the mucous membranes found on the inside of the mouth and the eyelids.
  • Marks also start to show up below the knees, albeit in a much lower concentration.
    • They are not like freckles in that their number does not increase when the child is exposed to the sun.
    • They are always smaller in size, never being more than 5 mm in diameter, and have a darker color than freckles.
    • Additionally, they have a darker appearance than freckles.
    • This is the most notable trait of those affected by LEOPARD syndrome.
    • The other characteristics manifest themselves in individuals to varying degrees and degrees of severity.
  • The eyes are very far apart from one another.
    • Although squints may occasionally be present, this is the only specific abnormality associated with the eyes; other than this trait, there are no other abnormalities associated with the eyes.
  • Pulmonary stenosis, which typically only manifests as a mild condition, is characterized by a constriction of the pulmonary artery at the point where it branches off from the heart.
  • Approximately half of all children diagnosed with LEOPARD syndrome do not have this abnormality.
  • Even when this narrowing is present, it is extremely uncommon for problems to arise as a result of it.
  • There is a possibility that the ECG tracings will reveal additional conductive issues in the heart.
  • However, there are very few instances in which this causes problems to surface.
  • Hypospadias is one of the abnormalities that can occur in the sexual organs.
    • This condition occurs when the opening of the urethra onto the penis is in an abnormal position.
    • Under these circumstances, the opening of the urethra is located not at the tip of the penis as it would be in normal circumstances, but rather further down the shaft of the penis itself.
  • Children diagnosed with LEOPARD syndrome frequently display signs of growth impairment.
    • This is not an excessive amount, but according to the standard growth charts, the majority of children won't reach the 25th centile until they are 18 years old.
  • Approximately one-quarter of children who have this syndrome also have hearing loss.
    • This is a sensori-neural condition, and if it is not identified and treated quickly, it can cause a delay in speech.

MANAGEMENT IMPLICATIONS

  • The skin lesions that are so characteristic of this syndrome cannot be treated in any way, shape, or form.
  • There is a possibility of being teased at school, especially if the name of the syndrome is well-known.
  • However, by the end of summer, the majority of children have a significant number of freckles spread across their bodies.
  • Therefore, during this time of the year, the child who has LEOPARD syndrome will feel less self-conscious about the markings that appear on his or her skin.
  • Squints, if they are present, should be treated by orthoptics or surgery, depending on the severity.
  • Amblyopia is a condition in which the vision in one eye can become significantly impaired, so it is important to take preventative measures as early as possible. (To some extent, you will experience double vision if you blink rapidly in one eye.
  • In order to make up for this, the child's brain will filter out one of the images, leaving them with only one visual representation.
  • If the squint is not corrected within a relatively short period of time, vision in one eye will completely disappear due to a lack of use.)
  • Heart defects almost never cause any symptoms or complications.
    • Unless, of course, the association with the skin markings is noted, they are typically not found until much later in life, making their discovery a rare occurrence.
  • If a person has hypospadias, they will need to have their degree of the condition as well as the effect it is having on their urine flow evaluated.
    • If the defect is severe, surgical correction might be required to fix it.
    • If it is thought that the boy will need this, getting it taken care of before he starts school is the smart thing to do.
    • A large amount of distress can be caused to young boys if they experience an abnormal flow of urine.
  • Early in the child's life, a diagnosis of deafness and an evaluation of its severity are both required.
  • There is a possibility that speech therapy will be required during the formative years of language acquisition (around one to three years of age).
  • Having hearing loss during this formative period makes it much more likely that secondary issues will arise with the acquisition of clear speech.

THE FUTURE

  • Because of his or her genetic inheritance, the child affected by LEOPARD syndrome should have relatively few difficulties in life.
  • A normal life and lifespan can be expected, despite the fact that deafness may be something that needs to be taken into consideration when making decisions about a career path.