Randhawa Manjinder, Dhawan Sumeet R, Kumar Sugantha, Singanamala Bhanudeep, Bhatia Anmol, Saini Lokesh, Sankhyan Naveen
Department of Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
J Pediatr Neurosci. 2019 Apr-Jun;14(2):103-104. doi: 10.4103/jpn.JPN_151_18.
A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. The child was diagnosed with Menkes disease. The manuscript aims to emphasize dilated scalp veins in diagnosis of Menkes disease.
一名三个月大的男婴出现反复惊厥。检查时,他面色白皙,头皮静脉扩张,头发稀疏且色素减退,肌张力低下。颅骨X线显示有缝间骨。该患儿被诊断为门克斯病。本文旨在强调头皮静脉扩张在门克斯病诊断中的作用。