Infantile neurological Degos disease.
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.
Yeo
Tong Hong
TH
Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester M13 9WL, UK. yeo@doctors.org.uk
Vassallo
Grace
G
Judge
Mary
M
Laycock
Nigel
N
Kelsey
Anna
A
Crow
Yanick J
YJ
D017809:Fatal Outcome; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D054853:Malignant Atrophic Papulosis / Q000175:diagnosis / Q000473:pathology*