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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Krabbe disease in children

儿科综合

Common symptoms

智能减退、痴呆、视力障碍、肌张力减低、智力减低、去大脑强直、腱反射亢进、眼球震颤

The pathology of disease

Krabbe disease in children is globoid cell leukodystrophy; GALC deficiency; infantile; irritability; developmental regression; optic atrophy; children; transplant selected; pediatric neurology/metabolic.

Symptoms

Irritability; developmental regression; infant; optic atrophy; known; transplant selected

Causes

GALC mutation; AR; Krabbe; globoid cell leukodystrophy; child.

Treatment

Hematopoietic transplant pre-symptomatic; supportive; pediatric neurology/metabolic; newborn screen selected

Dept

Pediatric neurology / pediatrics / metabolic / medical genetics.

Warm reminder: Health education reference only; seek care at regular hospital.