Perlman Syndrome

At a glance

Neonatal gigantism accompanied with visceromegaly (especially renal dysplasia or tumor) 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).

Synonyms

Gigantism Renal Dysplasia Syndrome; Fetal Gigantism, Renal Hamartomas and Nephroblastomatosis Syndrome; Fetal Ascites, Macrosomia, Wilms Tumor, and Nephroblastomatosis Syndrome; Nephroblastoma Ascites Fetal Macrosomia Tumor Syndrome.

History

Described by Max Perlman, an Australian Pediatrician in 1973.

Incidence

Fewer than 50 patients have been reported, with high number from Yemenite Jewish families. Fetal and neonatal mortality is more than 60% and survivors have a high incidence of neurodevelopmental delay.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Associated with germline inactivating mutations in DIS3L2 on 2q37.1. This gene encodes for Dis3, which has a major role in regulating RNA processing and degradation. It has been postulated that dysplastic medullary parenchyma in preterm infants develops into nephroblastoma and hamartoma, and eventually into Wilms tumor.

Diagnosis

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.

Clinical aspects

Survival is poor with most children dying within 1 year. Children may have multiple defects in several organ systems. 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.

Precautions before anesthesia

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, and blood sugar level.

Anesthetic considerations

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 modified rapid sequence induction is mandatory. Ventilation may be impaired by the size ...