Clinical Features

The disease presents a few weeks after birth with feeding difficulties, lethargy, hypotonia, hypothermia, and seizures. Psychomotor development is markedly delayed, and death usually occurs within 1 to 2 years of onset. Somatic, vascular, and bony changes are characteristic. The infant's hair is short, stringy, wiry, often white, and, under the microscope, appears twisted. The skin is pale and thick or pasty. The blood vessels, as revealed by angiogram or at autopsy, are elongated, tortuous, and display focal luminal narrowing and dilations resulting from disruption and fragmentation of the elastic layer. The bone shows osteoporosis and an irregular lucent trabecular pattern on radiographs.

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