4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations

作者：Potic Ana; Brais Bernard; Choquet Karine; Schiffmann Raphael^*; Bernard Genevieve

来源：Archives of Neurology, 2012, 69(7): 920-923.

DOI：10.1001/archneurol.2011.1963

Objective: To report a novel clinical and genetic presentation of a patient with 4H syndrome, which is a recently described leukodystrophy syndrome characterized by ataxia, hypomyelination, hypodontia, and hypogonadotropic hypogonadism.
Design: Case report.
Setting: University teaching hospital.
Patient: A 20-year-old male patient with 4H syndrome.
Results: The patient was found to have delayed tooth eruption and a late-onset growth hormone deficiency without overt growth failure. He was a compound heterozygote for the novel missense mutations R1005H and A1331T of POLR3A, which codes for the largest subunit of RNA polymerase III.
Conclusion: This is the first report of this type of leukodystrophy from southeastern Europe, which suggests that POLR3A mutations should be suspected in patients with hypomyelination and various central nervous system-based endocrine abnormalities.

• 出版日期2012-7