Bowen Syndrome

The displayed features suggest autosomal trisomy, particularly trisomy 18. However, there is no chromosome abnormality. Neurologic signs include severe hypotonia, psychomotor retardation, seizures, inability to suck, and absent neonatal reflexes. Distinctive “lightbulb”-shaped head. Cardiac defects may include patent ductus arteriosus, aortic abnormalities and septal defects.

Bowen Syndrome of Multiple Malformations.

Two families have been described, one with associated Zellweger syndrome.

Autosomal recessive.

Unknown.

Based on a constellation of clinical features and biochemical findings: abnormal liver function tests, including hypothrombinemia, elevated serum iron levels and iron saturation, elevated cerebraspinal fluid protein levels, and proteinuria. Diagnosis is confirmed by the absence of peroxisomes in fibroblasts and decreased dihydroxyacetone phosphate acyltransferase activity and plasmalogen content in blood cells and fibroblasts.

Patients rarely live beyond 1 year of age (mean age at death is approximately 12 weeks). Neurologic signs include severe hypotonia, psychomotor retardation, inability to suck, agenesis of the corpus callosum, and absent neonatal reflexes. Patients have low-set ears, small mandible, and glaucoma. Cardiac defects may include patent ductus arteriosus, aortic abnormalities, and septal defects. Other features can include enlarged clitoris, hypospadias, and finger flexion.

Patients are unlikely to present for major surgery because of the dismal prognosis. The usually severe neurologic problems may require palliative feeding by insertion of a G-tube, which often can be achieved with infiltration of local anesthetics supplemented with ketamine or low dose inhalational anesthetics by mask if required. Preoperative evaluation of the neurologic sequelae of the syndrome and renal function. Preoperative fasting will not be tolerated, and measures for appropriate intravenous fluids and supplementation should be undertaken.

Direct laryngoscopy and tracheal intubation can be difficult because of the small mandible and may require adapted anesthetic management.

Endocarditis prophylaxis is required if cardiac abnormalities are present. Agents that depend on hepatic or renal excretion should be used with care. Use of neuromuscular blockers may not be necessary because of the profound hypotonia; ketamine is a useful supplement if any further anesthesia is required.

Rhizomelic type of Chondrodysplasia Punctata: Inherited disease with a defect in the biosynthesis of peroxisomes and plasmalogen.

X-Linked Adrenoleukodystrophy (XLA): Inherited disease with accumulation of very-long-chain fatty acids resulting in demyelination and inflammation in the white matter of the brain combined with reduced adrenal steroid synthesis.