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
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
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
Bowen P, Lee CSN, Zellweger H, et al: A familial syndrome of multiple
congenital defects. Bull Johns Hopkins Hosp
Kelley RI: Review: The cerebrohepatorenal syndrome of Zellweger, morphologic
and metabolic aspects. Am J Med Genet