Perlman Syndrome

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.

Autosomal recessive.

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 through the kidneys should be used with caution or avoided in patients with severe renal impairment (e.g., pancuronium, vecuronium). In patients with cardiac dysfunction, drugs with negative inotropic effect should be used with care.

Beckwith-Wiedemann Syndrome: Most often occurs sporadically and is characterized by exomphalos, macroglossia, gigantism, and hypoglycemia because of hyperinsulinism. Because of the overlapping of clinical features between this medical condition and the Perlman syndrome, the findings of a cytogenetic abnormality of chromosome 11 is of interest.