Abstract
Objective:
To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins.
Methods and results:
MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected.
Conclusions:
These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Adult
-
Age of Onset
-
Brain / pathology*
-
Brain / physiopathology
-
Central Nervous System Cysts / pathology*
-
Central Nervous System Cysts / physiopathology
-
Cerebral Cortex / pathology
-
Cerebral Cortex / physiopathology
-
Child
-
Child, Preschool
-
Developmental Disabilities / pathology
-
Developmental Disabilities / physiopathology
-
Disease Progression
-
Epilepsy / pathology
-
Epilepsy / physiopathology
-
Face / abnormalities
-
Female
-
Humans
-
Intellectual Disability / pathology
-
Intellectual Disability / physiopathology
-
Language Development Disorders / pathology
-
Language Development Disorders / physiopathology
-
Magnetic Resonance Imaging
-
Male
-
Nerve Fibers, Myelinated / pathology
-
Nervous System Malformations / pathology*
-
Nervous System Malformations / physiopathology
-
Phenotype
-
Quadriplegia / pathology
-
Quadriplegia / physiopathology
-
Syndrome
-
Turkey
-
White People