PERLMAN SYNDROME

Perlman syndrome is a rare autosomal recessive condition.

ULTRASOUND

• Macrosomia.
• Generalized organomegaly.
• Enlarged, echogenic kidneys.
• ± Hydronephrosis.
• Facial dysmorphism.
• macrocephaly with a high forehead.
• deep set eyes, epicanthic folds.
• low set ears, anteverted nose, depressed nasal bridge, inverted V-shaped upper lip.
• high arch palate and micrognathia.
• Renal involvement:
• Wilms tumors, nephroblastomatosis, renal dysplasia, hamartomas and hydronephrosis.
• Polyhydramnios is often present.
• ± Ascites.
• Muscular hypotonia (including abdominal wall muscles).
• Hypoglycemia due to pancreatic islet cell hyperplasia.
• Isolated findings:
• Diaphragmatic hernia.
• Interrupted aortic arch.
• Anomalous left coronary artery.
• Polysplenia.
• CNS malformations (leptomeningeal cysts , white matter hypoplasia, large cisterna magna.

Sonographic Finding	1^st Trimester	2^nd Trimester	3^rd Trimester
Cystic hygroma / Increased NT	+	+
Choroid cyst		+
Callosal agenesis		+
Enlarged cisterna magna		+
Macrocephaly		+	+
Cardiomegaly		+	+
Dextrocardia		+	+
Hepatomegaly		+	+
Nephromegaly		+	+
Hydronephrosis		+	+
Ascites		+	+
Macrosomia		+	+
Polyhydramnios		+	+

DIFFERENTIAL DIAGNOSIS

Table Comparing Perlman, Beckwith-Wiedermann, Prune-Belly ans Simpson-Golabi-Behmel Syndromes

• Beckwith-Wiedermann Syndrome.
  It is often difficult to distinguish the two conditions antenatally. In both syndromes macrosomia and polyhydramnios may not be present. Macroglossia, hemihypertrophy and omphalocele is usually present in Beckwith-Weidermann syndrome.
  In Perlman syndrome a family history may be present in a sibling.
• Prune-Belly Syndrome.
  In this syndrome the ureters are usually markedly dilated but mental retardation, distinct facies, macrosomia and organomegaly are not present.

REFERENCES

1. Perlman M, Goldberg GM, Bar-Ziv J et.al. Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. J Pediatr 1973;83:414-418.
2. Greenberg F, Stein F, Gresik MV et.al. The Perlman familial nephroblastomatosis syndrome. Am J Med Genet 1986;24:101-110.
3. Fahmy J, Kaminsky CK, Parisi MT. Perlman syndrome: a case report emphasizing its similarity to and distinction from Beckwith-Wiedermann and prune-belly syndrome. Pediatr Radiol 1998;28:179-182.