Perlman syndrome
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
- Medical encyclopedia article on Perlman syndrome
- Wikipedia's article - Perlman syndrome
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski