Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium-Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder.

Congenital medulloblastoma with atypical MRI appearance.

A 13-day-old female infant was admitted with hydrocephalus that had been diagnosed on prenatal ultrasound at 33 weeks' gestation. She was delivered by Caesarean section at 34 weeks with an Apgar score of 10. On admission, she weighed 2,103 g. The head circumference was 32.3 cm, and the fontanelle was tense. T(1)- and T(2)-weighted MR images revealed an isointense mass occupying the fourth ventricle with multiple cysts in the vermis. The mass was not enhanced after gadolinium administration. CT showed no definite calcification in the lesion. Preoperatively, vermian tumors, including medulloblastoma, ependymoma, astrocytoma, and hamartomas, were considered in the differential diagnosis. Hamartoma was strongly suspected due to the lack of enhancement on MRI. After a suboccipital midline craniotomy, subtotal resection of a soft grayish tumor with areas of hematoma was carried out. The pathological diagnosis was medulloblastoma. Despite chemotherapy, CSF dissemination resulted in death at 11 months. We report this case of congenital medulloblastoma with atypical MRI findings and discuss the clinical characteristics of this lesion.

Modification of the endoscopic management of congenital duodenal stenosis.

This report documents a new endoscopic management modality for congenital membranous stenosis in the third portion of the duodenum. Standard approaches to duodenal stenosis in newborns include a laparotomy with an enteroenterostomy, bypassing the obstruction, or a duodenoduodenostomy with excision. We successfully developed a modification of the endoscopic treatment modality for congenital duodenal diaphragm.