Kousseff Syndrome

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.

Unknown.

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 preoperatively.

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, truncus arteriosus, right aortic arch, and aberrant right subclavian artery. Micrognathia may be present in infancy.

Conotruncal Anomaly Face Syndrome (Takao Velocardiofacial Syndrome): Japanese syndrome defined as “conotruncal anomaly face syndrome” with similar congenital heart defect as observed in the DiGeorge syndrome, but without the low Tcell count and hypocalcemic presentation in infancy and the craniofacial and palatal abnormalities typical of velocardiofacial syndrome.

Velocardiofacial Syndrome: Characterized by conotruncal anomaly and isolated outflow tract defects of the heart, including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. Other clinical features include microcephaly, mental retardation, learning disabilities, minor auricular anomalies, bulbous nose, cleft palate, short stature, slender hands and digits, and inguinal hernia.

Gardner-Silengo-Wachtel Syndrome (Genitopalatocardiac Syndrome; Male Pseudohermaphroditism with Micrognathia, Cleft Palate and Conotruncal Cardiac Defect Syndrome): Autosomal-recessive transmitted disorder characterized by micrognathia, low-set ears, double-outlet right ventricle, transposition of the great vessels, ventricular septal defect, right-sided aortic arch, and 46,XY gonadal dysgenesis. Other clinical features may include cleft lip and palate, polycystic kidneys, and hypospadias.