Retraction Note to: Kearns Sayre Syndrome - Case Report with Review of Literature

Advances In the Diagnosis of Leukodystrophies

“…Various etiologies have been described as causing myelination delay, such as chromosomal abnormalities (e.g., trisomy 21), inborn errors of metabolism (e.g., methylmalonic acidemia [20] and phenylketonuria [21]) and acquired causes (e.g., hypoxic-ischemic encephalopathy [22]). One exception to this is the X-linked disorder, Allan-Herndon-Dudley syndrome, formerly called MCT8-specific thyroid hormone cell transporter deficiency, a disorder characterized by myelination delay, but that presents [58,71,73,82] Endocrine Adrenal insufficiency Adrenoleukodystrophy [5] Ovarian dysfunction Vanishing white matter disease [36] Hypogonadotropic hypogonadism (delayed puberty)…”

“…Kearns-Sayre syndrome [82] Cardiac malformations 18q deletion [71] Cardiomegaly Fucosidosis [70] Gastrointestinal Hepatosplenomegaly Free sialic acid storage disease, fucosidosis [70,78] Hirschsprung Peripheral neuropathy central hypomyelination, Waardenburg and Hirschsprung syndrome [58] Skin Chilblains Aicardi-Goutières [33] Xanthomas (skin and tendons)…”