title: [Clinical manifestations for early diagnosis of the patient with classical Menkes disease].
abstract: Early treatment reportedly prevents neurological disturbance in patients with Menkes disease. To promote early diagnosis, a questionnaire concerning symptoms during the neonatal period and at the age of 1 month was sent to the mothers of 14 patients with Menkes disease. The height, body weight and head circumference were almost normal in most of the Menkes patients. At the age of one month, all patients had abnormal hair. The mothers noticed it in 8 cases, and in the remaining 6 cases, the abnormalities were confirmed by the photos at the age of one month. At this age, the mothers noticed weak activity in 5, jaundice in 5, dyspnea in 4 cases, feeding disturbance in 3, hypothermia in 2 and eczema in 2. These results suggest that recognizing hair abnormalities at a one-month check-up may provide a clue to the early diagnosis of Menkes disease.
authors.affiliation: Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, Tokyo.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ozawa
authors.forename: Natsue
authors.initials: N
authors.lastname: Nakamoto
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kodama
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis*; D011795:Surveys and Questionnaires