Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.

Objectives: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD.

Hypomyelination and Congenital Cataract: Three Siblings Presentation.

Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy.