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Mentions: On investigation the infant was found suffering from mild anemia (Hb = 9 gm%), total leucocyte count was increased 16000/dl due to chest infection, cerebrospinal fluid study was normal, chest X-ray showed pneumonitis and the ribs were found osteopenic. The skeletal survey of the limb bones also showed osteopenia. The serum copper level was 10.25 microgram/dl ( normal value at this age is 46 to 80 microgram/dl),serum ceruloplasmin level was 7.3 mg/dl (normal value is approximately 20 to 40 mg/dl). The MRI study of the brain revealed prominent bilateral extra-axial C.S.F. spaces with gliosis in both posterior parieto-occipital area with prominent left lateral ventricle and cerebellar folias (Figure 2). MR angiography revealed tortuosity of the cerebral vessels(Figure 3). EEG showed gross generalized polyspike waves. Opthalmoscopic examination showed pale optic disc. Microscopic examination of hair revealed classical sign of pili torti (Figure 4).
Menkes kinky hair disease: A case report
Bottom Line: He had also mental retardation.The patient was diagnosed as Menkes disease and treated symptomatically.For lack of facilities we were not able to do genetic study.
Affiliation: Department of Pediatrics, Burdwan Medical College, Burdwan-713101, West Bengal, India. firstname.lastname@example.org.
An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. He had also mental retardation. Serum copper and ceruloplasmin levels were low, MRI showed prominent extraaxial spaces with gliosis, MR angiography revealed tortuosity of cerebral vessels. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities we were not able to do genetic study.