Bowen syndrome
Overview
Zellweger syndrome (another name of Bowen syndrome) is a rare hereditary disorder affecting infants, and usually results in death. A leukodystrophy that is caused by a absence of peroxisomes.
Symptoms
* Enlarged liver * Elevated iron * Elevated copper * Vision disturbances * Prenatal growth failure * Floppy baby - lack of muscle tone * Inability to move (infant) * Unusual facial characteristics * Mental retardation * Seizures * Poor suck * Difficulty swallowing * Jaundice * Gastrointestinal bleeding * Postnatal growth deficiency * Low birth weight * Reduced muscle tone * Seizures * Poor infant sucking * Severe mental retardation * Deafness * Major defects of early brain development * Pachymicrogyria * Heterotopias * Subependymal cysts * Brain astrocytosis * Brain gliosis * Hypoplastic corpus callosum * Hypoplastic olfactory lobes * Large fontanels * Flat back of skull * High forehead * Shallow supraorbital ridges * Flat face * Forward tilting nostrils * Minor ear anomaly * Inner epicanthal folds * Brushfield spots * Small lower jaw * Redundant skin of neck * Congenital cataracts * Pallid optic disk * Hypoplastic optic disk * Changed retinal pigementation * Enlarged liver * Abnormal liver development * Cirrhotic liver changes * Albuminuria * Small kidney cysts * Decreased weight * Striated adrenocortical cells * Patent ductus arteriosus * Septal heart defect * Limb contractures * Camptodactyly * Limited knee extension * Clubfoot * Simian crease * Radiographic stippling of patellae * Radiographic stippling of greater trochanters * Radiographic stippling of triradiate cartilages * Elevated serum iron level * Excess iron storage * Pipecolic acidemia * Abnormal bile acids * Absent liver peroxisomes * Breech birth * Failure to thrive * Infant icterus * Blood stool during infancy * Severe mental retardation * Seizures * Developmental delay * Craniofacial abnormalities * Glaucoma * Cataract * Vision problems * Poor night vision * Hepatomegaly * Abdominal swelling * Hypotonia * Craniofacial abnormalities
Causes
Absence or reduction in peroxisomes.
Prognosis
Poor. Death common within 6 months
Treatment
Treatment of intractable renal or urinary system dysfunction may require urinary diversion, dialysis, or kidney transplantation. Urinary diversion is the surgical creation of an outlet for excreting urine. The types of urinary diversion include ileal conduit, cutaneous ureterostomy, ureterosigmoidostomy, and creation of a rectal bladder. In dialysis, a semipermeable membrane, osmosis, and diffusion imitate normal renal function by eliminating excess body fluids, maintaining or restoring plasma electrolyte and acid-base balance, and removing waste products and dialyzable poisons from the blood. Dialysis is most often used for patients with acute or chronic renal failure. The two most common types of dialysis are peritoneal dialysis and hemodialysis.