Zellweger Syndrome (Cerebrohepatorenal Syndrome of Zellweger) 1363

General: Rare; congenital; lethal disease; prevalent in females; demyelination of cerebral white matter, spinal cord, and peripheral nerves; enzymatic defects cause myelin deficiency (see Smith-Lemli-Opitz Syndrome); severe multisystem disorder resulting from defective biogenesis of the peroxisome causes death within the first year.

Ocular: Hypertelorism; microphthalmia; nystagmus; glaucoma; hemimydriasis; corneal opacities; cataract; narrowing of retinal vessels; pigment irregularities and areas of depigmentation; retinal holes without detachment; tapetoretinal degeneration; irregular border-lined optic disks; gray-colored disks; hypoplastic supraorbital ridges; optic atrophy.

Clinical: Hypotony; hepatomegaly; albuminuria; mental retardation; failure to thrive; vomiting; seizures; low birth weight; jaundice; short stature; broad nose; hypospadias; cryptorchidism; septal defect; craniofacial dysmorphic features; high forehead; renal cyst; psychomotor retardation; hepatosplenomegaly; severe hearing impairment.

Fenichel GM. Cerebrohepatorenal syndrome (Zellweger syndrome). In: Fenichel GM, ed. Clinical pediatric neurology, 2nd ed. Philadelphia: WB Saunders, 1993:151.

Haddad R, et al. Cerebro-hepato-renal syndrome of Zellweger. Arch Ophthalmol 1976; 94:1927-1930.

Martinez M. Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders. Brain Res 1992; 583: 171-182.

Stanescu B, Dralando L. Cerebro-hepato-renal (Zellweger's) syndrome. Arch Ophthalmol 1972; 87:590.

Zellweger H, et al. A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 1964; 114:402-414.