European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Eur. J. Paediatr. Neurol. · Jan 2004
Case ReportsArterial infarction caused by carotid artery dissection in the neonate.
Arterial stroke in a neonate caused by carotid artery dissection is rare. We report two cases, one with dissection at the level of the skull base, one just distal to the carotid bulb. Non-invasive techniques like MR angiography and sonography demonstrated the dissection accurately. ⋯ In one case dissection could be suspected following vacuum and forceps extraction. In the other no obvious birth trauma was reported. In conclusion, in a neonate with clinical signs suggestive of cerebral infarction, dissection of the carotid artery should be considered.
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Eur. J. Paediatr. Neurol. · Jan 2004
Case ReportsA severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment.
Severe and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. DNA analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder.