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cells and the surrounding space.Fig. 28.3 Infant girl with Krabbe disease. Brain MRI, (A and B) axial T2 and brain and spine MRI, (C and D) axial T1 with contrast show confluent T2 hyperintense signal in the periventricular white matter, dentate nuclei

cells and the surrounding space.Fig. 28.3 Infant girl with Krabbe disease. Brain MRI, (A and B) axial T2 and brain and spine MRI, (C and D) axial T1 with contrast show confluent T2 hyperintense signal in the periventricular white matter, dentate nuclei

cells and the surrounding space.Fig. 28.3 Infant girl with Krabbe disease. Brain MRI, (A and B) axial T2 and brain and spine MRI, (C and D) axial T1 with contrast show confluent T2 hyperintense signal in the periventricular white matter, dentate nuclei

cell (WBC) count was 39,000/ul, with a marked shift to the left. Blood urea nitrogen was 91 mg/dl, creatinine was 3.6 mg/dl, sodium was 120 mEq/l, and potassium was 4.7 mEq/l. The next day, the hematocrit decreased to 19.7%, and she was transfused with RBCs

cell (WBC) count was 39,000/ul, with a marked shift to the left. Blood urea nitrogen was 91 mg/dl, creatinine was 3.6 mg/dl, sodium was 120 mEq/l, and potassium was 4.7 mEq/l. The next day, the hematocrit decreased to 19.7%, and she was transfused with RBCs

cell (WBC) count was 39,000/ul, with a marked shift to the left. Blood urea nitrogen was 91 mg/dl, creatinine was 3.6 mg/dl, sodium was 120 mEq/l, and potassium was 4.7 mEq/l. The next day, the hematocrit decreased to 19.7%, and she was transfused with RBCs

cell count of 2/high-power field (HPF). Cerebrospinal fluid protein and glucose were normal. Rapid HIV assay was negative. Brain MRI revealed diffuse cerebral edema with cerebellar tonsillar herniation and effaced subarachnoid spaces (Fig. 41.2). Thirty-minute routine EEG showed an unreactive slow background with no sleep

cell count of 2/high-power field (HPF). Cerebrospinal fluid protein and glucose were normal. Rapid HIV assay was negative. Brain MRI revealed diffuse cerebral edema with cerebellar tonsillar herniation and effaced subarachnoid spaces (Fig. 41.2). Thirty-minute routine EEG showed an unreactive slow background with no sleep

cell count of 2/high-power field (HPF). Cerebrospinal fluid protein and glucose were normal. Rapid HIV assay was negative. Brain MRI revealed diffuse cerebral edema with cerebellar tonsillar herniation and effaced subarachnoid spaces (Fig. 41.2). Thirty-minute routine EEG showed an unreactive slow background with no sleep

nuclei (arrowheads). Final Diagnosis Menkes disease due to ATP7A gene mutation. Discussion Menkes disease, also known as kinky hair disease, is an X-linked recessive disease reported in 1 per 75,000 births. It is caused by mutations of the ATP7A gene (Xq13.3), which encodes a copper-transporting ATPase