KEARNS-SAYRE SYNDROME (KSS)

KSS is rare syndrome arising from a large deletion of mitochondrial DNA, with the most common deletion labeled as the common 4977 bp deletionis with the following character; starts from below age of 20, chronic progressive external ophthalmoplegia, and pigmentary retinopathy associated with one the following diseases; complete heart block, cerebrospinal fluid (CSF) protein of more than 100 mg/dL, cerebellar ataxia, short stature, deafness, dementia, and endocrine abnormalities.

SING AND SYMPTOMS

• Chronic progressive external ophthalamoplegia; weakness or paralysis of the eye muscles causing impair eye moment and ptosis
• Vision loss, due to degeneration of the light sensing tissue of eye.
• Cardiac conducting defeat, which controls the electrical signal of heart
• Ataxia problem in balancing
• Presents of high protein in cerebrospinal fluid.
• Muscle weakness
• Kidney problems
• Difficulty in recognition also known as dementia

DIAGNOSIS

It is difficult to diagnosis KSS due to involvement of multisystem.

TO DIAGNOSE KSS

• Review your medical history and symptoms.
• Perform a physical exam.
• May other tests, including urine test, eye exam, hearing test, blood tests and spinal tap(lumbar puncture).
• Might refer you for genetic counseling and testing (a blood test).
• May also take a biopsyof your muscle tissue to look for ragged-red fibers. These indicate abnormal muscle cells due to mitochondrial disease.

IMAGING STUDIES

• CT scan.
• Electroencephalogram (EEG).
• Electroretinogram (ERG, retinal exam).
• MRI or spectroscopy (MRS).

SOME HOMOEOPATHIC MEDICINE FOR KSS

PHYSOSTIGMA VENENOSUM: This remedy stimulates heart, raises blood pressure, and increases peristalsis. Causes contraction of the pupil and of the ciliary muscles. Induces a condition of short-sightedness. Spinal irritation, loss of motility, prostration, with very sensitive vertebra Fibrillary tremors. Rigidity of muscles; paralysis. Depresses the motor and reflex activity of the cord and causes loss of sensibility to pain, muscular weakness, followed by complete paralysis, although muscular contractility is not impaired.

BOTHROPS LANCEOLATUS: a great remedy in KSS when there is amaurosis; blindness from hemorrhage into retina. Hemoralopia, day blindness, can hardly see her way after sunrise; conjunctivial hemorrhage. All the symptoms of pulmonary congestion oppressed breathing and bloody expectoration, more or less profuse. Paralysis of one arm or one leg only. After being bitten in the little finger of one hand, paralysis began in the finger-tips of the other hand and extended over the whole of that side. 

RUTA GRAVEOLENS: one the top for eye when there is eyes-strain followed by headache. Eyes red, hot, and painful from sewing or reading fine print. Disturbances of accommodation. Weary pain while reading. Pressure deep in orbits. Tarsal cartilage feels bruised. Pressure over eyebrow. Asthenopia.

SYPHILINUM: when there is congenital anomalies like, Syphilitic affections. Pains from darkness to daylight; decrease and increase gradually. Hereditary tendency to alcoholism. Chronic, recurrent, phlyctenular inflammation of cornea; successive crops of phlyctenular and abrasions of epithelial layer of cornea; photophobia intense, lachrymation profuse. Lids swollen; pain intense at night; ptosis. Tubercular iritis. Diplopia; one image seen below the other. Feeling of cold air blowing on eye.