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August 1979

Picture of the Month

Author Affiliations

From the Departments of Neurology (Dr Robertson) and Pediatrics (Dr Joffe), University of Wisconsin Hospital, Madison, Wis, and the Concord Clinic, Concord Hospital (Dr Packard), Concord, NH.

Am J Dis Child. 1979;133(8):853-854. doi:10.1001/archpedi.1979.02130080093020

Denouement and Discussion 

Menkes' Syndrome 

Manifestations  Menkes' kinky hair disease is a disorder of copper metabolism characterized by developmental retardation, seizures, abnormal hair, and roentgenographic abnormalities. Manifestations usually appear between 1 and 3 months of age and many of the affected children have seizures. The disorder is progressive and death usually occurs prior to age 3 years.Infants with this syndrome have a similar facial appearance consisting of pudgy cheeks, pallor, irregular eyebrows, and expressionless facies. Patients seem normal at birth but the normal primary hair is replaced by lightly pigmented, sparse, coarse hair that tends to break easily. Microscopic examination of the secondary hair shows twisting of the shaft (pili torti), variation in the diameter of the hair shaft (monolethrix), and fragmentation (trichorrhexis nodosa).Neurological findings include mental retardation, seizures, hypothermia, irritability, intracranial hemorrhage, and progressive cerebral degeneration. There is generalized arterial tortuosity and variation in size of the lumen of the arteries.Laboratory findings

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