Severe polymalformative syndrome involving the nervous
system (sacral meningocele), heart (conotruncal heart defect), unilateral
renal agenesis, significant craniofacial deformities, low-set and posteriorly angulated ears, retrognathia, and
short neck with low posterior hairline.
Sacral Meningocele and Conotruncal Heart defects Syndrome.
Only four reported cases in the literature. However,
Toriello et al. suggested in 1985 that the incidence may be underdiagnosed
and may represent as many as one in 100 cases of spina bifida cystica.
Autosomal recessive. No single gene defect has been
identified. Chromosomal studies in affected patients were normal.
Significant cardiac and neural tube defects may be
diagnosed in utero by ultrasonography. Elevated amniotic α-fetoprotein levels are suggestive of open neural tube defects. Postpartum
diagnosis is made based on phenotypical findings, including cardiac imaging
with echocardiogram and/or cardiac catheterization.
Craniofacial features common to all cases
included low-set, posteriorly rotated ears, retrognathia, depressed nasal
tip, and short neck with low posterior hairline. Myelomeningocele with
hydrocephalus was present in at least three of the four cases. Cardiac
abnormalities have been described as truncus arteriosus in two cases and
transposition of the great arteries in one case. The fourth patient had no
cardiac abnormalities. Left renal and ureter agenesis was present in one
case. The fingers may be long, and the space between the first and second
toes may be large.
Evaluation for congenital heart
disease is mandatory. Presence of a harsh systolic and/or diastolic murmur,
respiratory distress with cyanosis, and low oxygen saturation are signs of
underlying cardiac disease. Electrocardiogram, echocardiogram, and consultation with a
cardiologist to optimize cardiovascular therapy preoperatively are recommended.
Patients with myelomeningocele may have neurologic deficits prior to or, especially, after
repair. Any deficits should be documented prior to anesthesia and surgery. If renal
anomalies are suspected, renal function and electrolyte status should be checked
Potentially difficult direct
laryngoscopy and tracheal intubation because of retrognathia and short
neck should be expected. Considerations for myelomeningocele (MMC) include protection of the defect
while the patient is lying supine. Some MMC patients have a short trachea. There is a
potential for considerable blood loss, especially if skin undermining is
required to release subcutaneous fat and facilitate closure of the defect.
Hydrocephalus and raised intracranial pressure secondary to Arnold-Chiari
malformation may be present. Anatomy, pathophysiology, and particular
hemodynamic goals for the specific form of congenital cardiac defect should
be determined prior to anesthesia.
Succinylcholine is not
contraindicated because denervation is congenital. Endocarditis prophylaxis
and prevention of paradoxical air embolus are additional considerations in
such patients. Impaired renal function affects the pharmacokinetics and
pharmacodynamics of drugs, particularly those that are water soluble and predominantly
excreted via the kidney.
DiGeorge Syndrome: Disorder characterized by hypocalcemia arising from
parathyroid hypoplasia, thymic hypoplasia, and complex congenital heart
defects. These include tetralogy of Fallot, type B interrupted aortic arch,