Kokkeyn's syndrome

Description:

The syndrome described in 1936 by Englishman Edward Alfred Kokkeyn. Meets in medical literature in the specialty under the name "Kokkeyn's Syndrome" or "senile nanism", clinically characterized by a nanism combination to a pigmental retinitis and deafness.

Reasons of a syndrome of Kokkeyn:

Etiology of a syndrome of Kokkeyn genetic. The disease is transmitted in the autosomal and recessive way.

Symptoms of a syndrome of Kokkeyn:

Though manifestation of a syndrome is noted sometimes even at the baby, in most cases the clinical symptomatology appears only after 2-year age.


The newborn or the child of early age develops normally, both from the point of view of the weight and growth, and from the point of view of psychomotor development — until the end of the 2nd year of life. Then there are objective symptoms amplifying with age and mentioning from the functional and organic points of view, a set of devices and bodies of the child.

Morphological frustration: the nanism distinguished usually at the age of 2 years and become obvious in 3 years, appears at children with normal development of weight and growth to this time. It is about the inharmonious nanism amplifying with age (actually as the child becomes more senior, the disproportion between real and ideal development of growth and weight comes to light more and more): hands and legs are disproportionately big;

Skin proyavleniya:umensheniye of a hypodermic fatty tissue; the child has an appearance of "old man", hair quickly turn gray;
the increased photosensitivity can become the emergence reason on a face of pigmentation in the form of a butterfly and is a false sign of a lupus erythematosus;
violent rashes (heavy current of a syndrome).

Senilism of the person is caused, in addition to change of soft tissues, and other craniofacial anomalies:
nanocephalia,
prognathism,
excessively large ears, sometimes incorrectly located;
considerable and non-constant anomalies of a skeleton;
flexion contractures in joints ("gait of the cavalryman")

Neuromental disorders are an effect of morphological anomalies (nanocephalia) and other etiopatogenetichesky factors.

It is about a progressive oligophrenia; an ataxy with intentsionny trembling; muscular hypertension of the lower extremities and as its effect, walking disturbance.

Acoustical frustration:
Deafness: if it inborn also appears early (on the first year of life), then it is followed by dumbness. The developed deafness, apparently, labyrinth type, develops progressively and becomes full in the subsequent.

Eye disturbances:
The pigmental degeneration of a retina – seldom unilateral, usually bilateral, is characterized by uneven distribution of a pigment of a retina, taking a form of "salt with pepper".
The progressive atrophy of an optic nerve leading to decrease in sight and eventually to a blindness.
Photophobia.

Treatment of a syndrome of Kokkeyn:

There is no specific treatment. Treatment is posimptomny.