[MIM 267 000]

(Nephroblastoma-ascites-fetal macrosomia-tumor syndrome)

Rare: prevalence estimated at < 1.106. Autosomal recessive transmission.

Clinical presentation:

-        polyhydramnios (+ cysts or renal hypertrophy)

-        macrosomia at birth

-        bilateral renal tumours: nephromegaly, hamartoma, sometimes nephroblastomatosis, and risk of nephroblastoma (2/3)

-        hypertrophy of the islets of Langerhans with hyperinsulinism

-        facial dysmorphism: depressed root of the nose, mild micrognathia, prominent upper lip, macroglossia,  erect hair on the anterior part of the scalp.

-        more rarely: agenesis of the corpus callosum, cleft palate, hemangioma of the choroid plexus, heart dextroposition, diaphragmatic hernia, hepatomegaly, liver fibrosis, hypoplasia of the abdominal muscles

Differential diagnosis: Beckwitt-Wiedemann and Simpson-Golabi-Behmel syndromes.

Prognosis is dark in the neonatal period because of septic complications.

Anesthetic implications:

macrosomia, risk of hypoglycemia, risk of difficult intubation, check liver function (portal hypertension ?)

References : 

• Pirgon O, Tabek ME, Akin F, Sert A.
  A case of Perlman syndrome presenting with hemorrhagic hemangioma.
  J Pediatr Hematol Oncol 2006; 28: 531-3.

Updated: July 2016