Cockaynes syndrom
Cockaynes syndrom är en sjukdom som är medfödd. Symptomen är bland mycket annat, småväxta, Hörselnedsättning dövhet, Synnedsättning, ataxi(skakningar) o.s.v.
Syndromet är mycket ovanligt. I Sverige finns, för oss kända, endast 4 personer varav Linda och Claes är 2 av dem.
Och här en beskrivning på engelska, and in english.
Cockayne´s Syndrome
(Cockayne-Neill Dwarfism)
Cockayne in
1936 [1] and again in 1946 [2] described a brother and sister with dwarfism,
microphaly, mental retardation, peculier retinal pigmentation, optic atrophy,
exposure dermatitis, and progressive neurologic deterioration. Neill and
Dingwall [3] described two brothers with similar features. More than 20 pations
have subsequently been described [4-9].
Head: All of the reported patiens have been microcephalic.
Face: At
birth the appearance is normal. A loss of subcutaneous fat gradually develops
during childhood. Older patiens usually have senile appearance with sunken eyes
and prominence of the maxilla and nose.
Eyes: The vision is initially normal. Pigmentary retinal degeneration,
optic atrophy, and arterial narrowing gradually develop during childhood. Other
common but less frequent eye findings are cataracs, loss of the macular reflex,
nystagmus, lack of tearing, and poor response to mydriatic drugs.
Ears: The
eares appear prominent because of the loss of subcutaneous fat in the face.
Chest: The trunk is short and sometimes barrel-shaped.
Breasts: At the age of expected puberty the females do not have normal
breast development.
Genitalia: Several of the reported males have had cryptorchidism. At puberty
the penis is of normal size, but the testes remain small and the pubic hair
growth often has a feminiue pattern.
Back: Some
patiens have a stooped posture and dorsal kyphosis.
Limbs: The
arms and legs appear to be disproportionately long in comparison to the trunk.
The hands seem disproportionately large. The range of motion of the hips,
knees, and ankles becomes prgressively more restricted.
Skin: A
scaly, erythematous dermatitis develops after exposure to the sun, usually on
the hands, legs, face, and ears. The dermatitis of the face may have a
“butterfly” distribution. Older patiens have thickned, wrinkled skin, especially
on the face.
Height: The
length at birth is normal. Shortness of stature is evident in childhood. Adults
are usually less then 4 feet (123 cm) tall.
Weight: These pations are usually thin.
Early
psychomotor development is slow. The mental deficiency is marked, with most IQ
estimates blow 50. Evidence of proressive neurologic deterioration is usually
apperent in the second decade. The muscle power deminishes and the gait becomes
awkward. Nystagmus, ataxia, an
intention tremor, and incoordination develop. Initially the deep tendon
reflexes are hyperactive, later hypoactive. Most patiens become blind and deaf.
The brain
is small and the cerbral cortex and cerebellum appear atrophic. Ther is a
marked reduction in the cerebral white matter. Myelin stains show a patchy
demyelinization that is often severe in the subcortical white matter.
Calcification may be marked; it is symmetrically distributed in the cortex,
basal ganglia, and cerebellum. Segmental demyelination in peripheral nerves has
also been reported. Renal biopsis in two patients showed thickening of the
mesangium and the basement membrane of the glomerulus, some collapsed capillary
loops, hyalinized glomeruli, and tubular atrophy with interstitial fibrosis.
The
cerebrospinal fluid protein is usually increased. Three reported patients had
diminished glomerular function; one also had azotemia and hyperchloremic
acidosis. This later patients also had type II hyperlipoproteinemia and fasting
hyperinsulinemia. Another patient had hyperglycemia and an increased plasma
insulin level. The skeletal maturation is normal. A thickned calvarium and
anterior notching of the thoracic vertebrae are sometimes present. Intracranial
calcifications are often visible on the skull x-ray, especially in the region
of the basal ganglia.
By 20 years
of age these patients are usually unable to care for themselves. Death usually
occurs in late childhood or early adulthood from inanition and respiratory
infections.
Genetics
Autosomal
recessive.