Prenatal sonographic detection of congenital hepatic cyst in third trimester after normal second-trimester sonographic examination.

A solitary unilocular hepatic cyst (SUHC) is a rare prenatal or neonatal finding. There are few reports of the prenatal detection of SUHC, and the progression of SUHC in utero is unknown. We present a proven case of SUHC in a fetus detected on a 34-week ultrasound examination following a normal 19-week examination. The cyst was inseparable from the liver and caused some flattening of the liver edge. Prenatal detection of an SUHC inseparable from the liver and appearing in the late second or third trimester should suggest a congenital hepatic cyst.

Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated.

We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.

Secondary massive ovarian edema with Meig's syndrome.

Primary massive ovarian edema is uncommon, particularly when it involves both ovaries before puberty. Ovarian edema secondary to a preexisting ovarian lesion is one of the postulated mechanisms. A prepubertal girl presented with bilateral massive ovarian edema with stromal hyperthecosis, which may have predisposed both ovaries to undergo partial torsion. The associations with Meig's syndrome, greatly elevated hormone levels and presence of omental and retroperitoneal nodules, raised a suspicion of malignancy.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: survival of a male infant.

The combination of megacystis with microcolon and severe intestinal hypoperistalsis constitutes a rarely encountered syndrome in neonates. Of 16 previously reported cases, 14 have occurred in females and all but one have been fatal. Various forms of intestinal diversions have been unsuccessful. Aganglionosis has been excluded in every case. A method of management involving prolonged total parenteral nutrition, followed by graduated jejunostomy and gastrostomy feedings, has resulted in the survival of a male infant with this syndrome. No previous male survivors have been reported.