Synonym: kinky hair syndrome
Inheritance: X-linked recessive, with males manifesting the full syndrome
Genetic locus: Xq13.3
Protein affected: copper transporting ATPase. Copper accumulates in the intestines and kidneys with inadequate delivery to other organs.
Clinical findings in the neonate:
(1) hypothermia
(2) feeding difficulties
(3) jaundice
Clinical findings in infants and young children:
(1) hypertonia and seizures
(2) hair becomes steel wool-like, twisted, light in color and easily broken
(3) lack of expressive facial features and pudgy cheeks
(4) progressive mental deterioration
(5) infection
(6) growth retardation and failure to thrive
(7) intracranial hemorrhage (subdural hematoma, other)
(8) unequal skin pigmentation
(9) metaphyseal widening
(10) poor visual acuity, myopia and strabismus
(11) gingival hyperplasia
(12) gastric polyps which may bleed acutely
(13) pyloric stenosis
(14) sliding hiatal hernia
(15) diverticuli in the urinary bladder
(16) elongated and tortuous arteries
Laboratory findings:
(1) low serum ceruloplasmin
(2) low serum copper
(3) increased urine copper levels
Almost all patients die during childhood.
