Perlman syndrome

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Perlman Syndrome

Perlman syndrome (pronounced: purl-man sin-drome), also known as renal hamartomas, nephroblastomatosis, and fetal gigantism, is a rare overgrowth disorder characterized by polyhydramnios, neonatal hypoglycemia, macrosomia, facial abnormalities and bilateral renal tumours.

Etymology

The syndrome is named after American pediatrician Max Perlman, who first described the condition in 1973.

Symptoms and Signs

The most common symptoms of Perlman syndrome include polyhydramnios (excessive amniotic fluid), neonatal hypoglycemia (low blood sugar in a newborn), macrosomia (abnormally large body), and facial abnormalities such as hypertelorism (widely spaced eyes), frontal bossing (prominent forehead), and macrocephaly (large head). The syndrome is also characterized by bilateral renal tumours, specifically nephroblastomatosis (a condition that predisposes to Wilms' tumor).

Diagnosis

Diagnosis of Perlman syndrome is based on clinical features, including distinctive facial features, overgrowth, and the presence of bilateral renal tumours. Prenatal diagnosis may be possible through ultrasound examination, which can detect polyhydramnios, macrosomia, and renal abnormalities.

Treatment

Treatment of Perlman syndrome is symptomatic and supportive. Management may include surgery for renal tumours, treatment for hypoglycemia, and other supportive measures.

Prognosis

The prognosis for individuals with Perlman syndrome is poor, with a high neonatal mortality rate due to respiratory distress and hypoglycemia. Survivors are at an increased risk for Wilms' tumor and other complications.

See Also

External links

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