Showing papers on "Neurocristopathy published in 1993"

Nevus of Ota and leptomeningeal melanocytic lesions

Abstract: Two patients with congenital nevus of Ota developed intracranial malignant melanocytic tumors. One had a localized tumor that resembled a melanocytoma, but the other had a more highly malignant tumor that diffusely seeded the leptomeninges. There are 10 prior cases in the world literature. These cases are contrasted with the other disorders in which melanotic skin lesions are associated with CNS melanocytic tumors, including neurocutaneous melanosis, cellular blue nevus, and metastatic malignant melanoma. Each disorder tends to involve particular sites of the CNS. The nevus of Ota can be considered a neurocristopathy and, rarely, may give rise to malignant CNS lesions.

Ondine-Hirschsprung syndrome (Haddad syndrome) - Further delineation in two cases and review of the literature

Abstract: Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown.

Transgenic mouse model for neurocristopathy: Schwannomas and facial bone tumors

Abstract: We have characterized a strain of double transgenic mice with simian virus 40 large tumor antigen and prokaryotic lacZ under the control of the myelin basic protein promoter that develops spindle-cell sarcomas and osteogenic sarcomas at 5-7 months of age. Although poorly differentiated, the spindle-cell sarcomas were characterized as malignant Schwannomas based on their neural association, the presence of basal lamina, and expression of Schwann cell-specific genes. The osteogenic sarcomas were often multiple and appeared predominantly in the facial bones, less frequently in the ribs and vertebral column, and only rarely in the appendicular skeleton. Benign osteoblastic lesions were often observed adjacent to these sarcomas. Both the osteoblastic cells in the facial skeleton and Schwann cells are regarded as neural crest derivatives. The biological properties and anatomical location of these tumors suggest that they may share a common origin from the neural crest or its derivatives. R.P. Bolande [Hum. Pathol. (1974) 5, 409-429] introduced the term neurocristopathy as a unifying concept to describe such lesions arising from the neural crest or its derivatives. Cell lines established from both bone and Schwann cell tumors arising in these transgenic mice express simian virus 40 large tumor antigen mRNA as well as functional large tumor antigen. Such cell lines are potentially valuable in the search for markers that identify mammalian neural crest derivatives.

증례 : Hirschsprung 병을 동반한 Congenital central hypoventilation syndrome 1 례 ( Ondine`s curse )

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder of central control of ventilation in which patients hypoventilate primarily during sleep, despite the presence of normal neuromuscular and pulmonary system. The pathophysiology of CCHS is unknown. Ondine`s curse has been linked to Hirschsprung`s disease, congenital neuroblastoma, ganglion-euroblastoma, lack of heart rate variability. It suggested that the respiratory, cardiac, intestinal abnormality might be the possibility of neuronal crest migrational abnormality in early embryonic development, resulting in disease complex including CCHS. (may be a form of the neurocristopathy) We experienced 1 day old male newborn who developed cyanosis, shallow respiration, abdominal distension, diagnosed as congenital central hypoventilation syndrome with total aganglionosis