Neonatal gigantism accompanied with visceromegaly
(especially renal dysplasia or tumour) and at risk for hypoglycemia. This
condition is comprised of nephromegaly, renal dysplasia, Wilms tumor,
macrosomia, hypotonia, cryptorchidism, and multiple facial dysmorphism
(round full face, micrognathia, macrosomia).
Gigantism Renal Dysplasia Syndrome; Fetal Gigantism,
Renal Hamartomas and Nephroblastomatosis Syndrome; Fetal Ascites,
Macrosomia, Wilms Tumor, and Nephroblastomatosis Syndrome.
Described by Max Perlman, an Australian Pediatrician.
Twelve cases have been reported, with five cases from
Yemenite Jewish families. Fetal and neonatal mortality is more than 60% and survivors
have a high incidence of neurodevelopmental delay.
Unclear but it has been postulated that dysplastic
medullary parenchyma in preterm infants develops into nephroblastoma and
hamartoma, and eventually into Wilms tumor. No chromosomal abnormalities
have been reported. Survival was poor with most children dying within 1
year. Children may have multiple defects in several organ systems.
In utero presentation with polyhydramnios, ascites, and
visceromegaly. The facies is characteristic: macrocephaly, high forehead,
depressed nasal bridge, epicanthal folds, low-set ears, anteverted upper
lip, high-arched palate, and micrognathia.
A high perinatal mortality rate, with 6 of the 12
documented patients dying in the first 4 days of life. Mental retardation is
present. Features include macrosomia, visceromegaly, and pancreatic islet
hyperplasia. Hypoglycemia from hyperinsulinism is an important feature and
may be a preventable cause of death. Isolated cardiac anomalies (interrupted
aortic arch, anomalous left coronary artery), diaphragmatic hernia, and
cerebral anomalies (cysts, white matter hypoplasia, gray matter heteropsia)
have been reported. Renal involvement includes hydronephrosis, renal
dysplasia, hamartomas, and nephroblastomatosis. Wilms tumor developed in
almost 50% of patients. These tumors usually present in the first year of
life and are often bilateral. Ultrasonography screening for Wilms tumor is
performed every 3 months. Wilms tumor is treated by surgical resection,
radiation, and chemotherapy.
Assessment of difficulty in tracheal
intubation (high-arched palate and micrognathia). Correct anemia and
electrolyte imbalance resulting from Wilms tumor. Assess cardiac anatomy and
function—dysfunction may be present as a result of hypertension and
chemotherapy. Investigations: complete cell blood count, coagulation tests, urea and creatinine levels, serum
electrolytes, chest radiograph, ECG, echocardiography, blood sugar level.
The presence of micrognathia and
macrosomia might contribute to render the direct laryngoscopy and tracheal
intubation difficult. If there is a large intraabdominal tumor, the infant
is prone to regurgitation on induction and a rapid sequence induction is
mandatory. Ventilation may be impaired by the size of the tumor, surgical
retraction, and metastases to the lungs. Blood loss may be massive and
adequate venous access is required. Resection of the extension of the tumour
into the inferior vena cava may result in tumor embolism. Both the arterial
and central venous lines are useful to monitor rapid changes in the
hemodynamics and acid-base status. Close monitoring of the blood sugar
level should be performed perioperatively.
Anesthetic drugs that are excreted ...