Palmer Pagon syndrome
Overview
A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
Symptoms
* Abdominal wall anomaly * Broad nose * Urinary tract abnormality * Kidney dysfunction * Inguinal hernia * Long nose * Epicanthic folds * Communicating hydrocephaly * Patent ductus arteriosus * Tetralogy of Fallot
Causes
* Normal variant + Diastasis recti abdominis –Very common –Supraumbilical rectus muscles separated laterally * Athyrotic hypothyroidism sequence –Primary defect in thyroid gland development –58% have associated umbilical hernias * Omphalocele –Herniation of abdominal contents into umbilical cord, covered only by peritoneum not by skin –Often associated with genetic syndromes * Gastroschisis –Intact umbilical cord –Evisceration of bowel through a defect in the abdominal wall, usually found on the right side of the cord without an overlying membrane * Genetic syndromes –Beckwith-Wiedemann syndrome –Exomph alos-macroglossia-gigantism –May be associated with umbilical hernia or omphalocele –Pentalogy of Cantrell: Omphalocele, pericardial defect, sternal defect, cardiac defect (commonly tetralogy of Fallot), diaphragmatic hernia
Diagnosis
signs and symptoms of Palmer-Pagon syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Palmer-Pagon syndrome symptoms.
Treatment
* Observation is often all that is needed * Covering the hernia or “strapping” is not useful * Surgery is indicated only if: –The defect enlarges after 1–2 years of age –Symptomatic –Incarceration or strangulation –Persistent at 3–5 years of age * Umbilical hernias are less likely to close if defect >1.5 cm or if it is a large proboscoid umbilical hernia with excessive overlying skin * Incarceration of an umbilical hernia is rare, occurring in only 1/1,500 hernias –Occurs more frequently if fascial defect >1.5 cm –Usually only contains omentum and not intestine