Poster Abstracts


4H leukodystrophy is an extremely rare often progressive syndrome that causes CNS hypomyelination, hypodontia and hypogonadotropic hypogonadism. It is caused by an autosomal recessive mutation in the POLR3A, POLR3B, POLR1C, or POLR3k genes. Clinical presentation may include delayed puberty, dental abnormalities, low hormone levels, cerebellar dysfunction, and cognitive impairment. The prevalence of 4H leukodystrophy is unknown, with less than 500 cases identified word wide (YaYA foundation 2021). In a descriptive study, Wolf and colleagues (2014) cited often progressive cognition impairment, yet no exact data was presented. A review of the literature revealed no neuropsychological data published in patients with 4H syndrome. Neuropsychological data obtained at age 9 and again at age 20 of a female with confirmed POLR3B mutation is presented. Medical history was significant for congenital ataxia, delayed puberty, osteoporosis, nystagmus, intention tremor, and unilateral hearing loss. Initial assessment revealed mildly impaired intellect with better verbal memory and language skills compared to nonverbal reasoning, construction, attention and processing speed abilities. At follow up she displayed grossly stable cognition. MRIs documented diffuse hypomyelination and profound cerebellar volume loss with questionable progression over time and small size of the adenohypophysis. Issues related to cognitive outcome (e.g., hormone replacement) will be discussed.

First AuthorAya Haneda
Second AuthorJennifer K Hoots
Third AuthorNicholas Amitrano
Fourth AuthorMaureen Lacy