Patient with growth retardation, delayed milestones with kinky hair. What is the diagnosis?
The given scenario suggests diagnosis of Menke's disease X- linked recessive disorder caused by mutations in genes coding for the copper transpo protein ATP7A. C/F- Growth retardation Delayed milestones Kinky hair Hypotonia, hypothermia Seizures Lesch nyhan syndrome- self injury Wilson disease- KF ring, neurological & hepatic manisfestation.
Menke's disease
Trisomy 21
Lesch nyhan syndrome
Wilson disease
Disorders of Carbohydrate Metabolism