Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester M13 9WL, UK.
Eur J Paediatr Neurol. 2011 Mar;15(2):167-70. doi: 10.1016/j.ejpn.2010.06.003. Epub 2010 Jul 24.
Degos disease, or malignant atrophic papulosis, is a rare vasculopathy of uncertain aetiology manifesting as a primary dermatological disorder in most cases, but with widespread systemic involvement developing in an undefined proportion of patients. Reported neurological features of Degos disease include ischaemic and haemorrhagic stroke, subdural effusion, seizures, neuropathy, transverse myelitis, and optic atrophy. The description of contrast enhancement of the leptomeninges possibly indicates a defect of blood vessel integrity likely explaining the pleiotropic neurological manifestations. Degos disease is usually considered a disorder of adulthood, although a small number of infantile cases have been described. Here, we report a female who demonstrated a neonatal onset of Degos disease, eventually showing the highly characteristic skin lesions together with ptosis and a generalized weakness as part of her systemic disorder. Subsequent exacerbations led to an inexorable neurodevelopmental and physical decline. CT scan revealed intracranial calcification, a feature described in two previous cases. Our report highlights the need to consider Degos disease in the differential diagnosis of childhood neurological disease with skin involvement.
德戈斯病，又称恶性萎缩性丘疹病，是一种病因不明的罕见血管病，大多数情况下表现为原发性皮肤疾病，但在一定比例的患者中会出现广泛的系统性受累。德戈斯病的神经系统表现包括缺血性和出血性中风、硬膜下积液、癫痫、神经病、横贯性脊髓炎和视神经萎缩。脑膜强化的描述可能表明血管完整性存在缺陷，这可能解释了其多系统的神经表现。德戈斯病通常被认为是成人疾病，尽管已有少数婴儿病例的描述。在这里，我们报告了一名女性患者，她在新生儿期即出现德戈斯病，最终出现了高度特征性的皮肤损伤，同时伴有上睑下垂和全身性无力，这是她系统性疾病的一部分。随后的病情恶化导致了不可避免的神经发育和身体衰退。CT 扫描显示颅内钙化，这是以前两例中描述过的特征。我们的报告强调了在儿童期伴有皮肤受累的神经疾病鉴别诊断中需要考虑德戈斯病。
