Caused by an inborn error of tryptophan metabolism.
Ataxia with photosensitivity, short stature, and a high-vaulted, narrow
Unsure but could be autosomal recessive.
Diagnosis is clinical and biochemical. Low serum
tryptophan levels with normal 5-hydroxytryptophan pathways, low urinary
N-methyl nicotinamide levels, and absent 5-hydroxyanthranilic acid are
observed. The response to tryptophan loading is abnormal, with low-to-absent
level of 3-hydroxyanthranilic acid. Monochromator studies show abnormal
The main features of the disease are a short
stature, cerebellar-like ataxia associated with intention tremor of the
upper limb, photosensitivity of the face and trunk, and mental retardation.
Other common findings are clinodactyly, high arched palate,
pseudohypertrophy of the calf, and bicuspid aortic valve malformation.
Obtain an ECG and an echocardiogram
if a cardiac valve lesion is suspected.
Because of the high arched palate and
small maxilla, insertion of a laryngoscope with a curve blade may be more
difficult. Spontaneous respiration may have to be maintained until the airway is secured.
In the presence of a valve lesion,
antibioprophylaxis may be recommended, and the management should be made
Cockayne Syndrome: Complex congenital genetic disorder
characterized by the association of dwarfism, deafness, microcephaly, facies
similar to progeria syndrome, ataxia, photosensitivity and eye
malformations, retinal atrophy, and renal insufficiency with premature
aging and atherosclerosis.
Fenton DA, Wilkinson JD, Toseland PA: Family exhibiting cerebellar-like
ataxia, photosensitivity and shortness of stature—A new inborn error of
tryptophan metabolism. J R Soc Med