Mosaic Turner syndrome with improved Chiari type 1 malformation after growthhormone therapy: A case report

摘要

We described a three-year-old girl whose Chiari type 1 malformation associated withmosaic Turner syndrome disappeared after GH therapy. She was diagnosed with mosaic Turnersyndrome at the age of 1 yr and 7 mo by a chromosomal analysis (G-band) for short statureand was treated with GH. Sagittal T1-weighted magnetic resonance imaging (MRI) performedbefore the start of GH demonstrated herniation of the cerebellar tonsils 7 mm below theforamen magnum into the cervical spinal cord. After the initiation of GH therapy, thegrowth in height was favorable and improved from 70.6 cm (-3.5 SD) to 92 cm (-1.5 SD) in 2yr. An MRI examination 19 mo later showed the disappearance of Chiari type 1 malformation.GH therapy either exacerbates or ameliorates Chiari type 1 malformations associated withGH deficiency (GHD). Since Turner syndrome uses more GH than GHD, careful follow-up isrequired if the disease is associated with Chiari type 1 malformation.Turner syndrome, caused by partial or complete loss of an X chromosome, is one of the commonchromosomal anomalies in humans. It is typically associated with primary amenorrhea due toearly ovarian failure and short stature (1).Abnormalities such as malformations in the central nervous system (CNS) are extremely rare inTurner syndrome, with a few complications of CNS symptoms such as epilepsy and mentalretardation. To our knowledge, there was only one report of Turner syndrome with Chiari type Imalformation by Harsha KJ et al . (2). AChiari type 1 malformation is a congenital or acquired abnormality of the brainstem,characterized by caudal herniation of cerebellar tonsils through the foramen magnum (3, 4). Exacerbation ofneurological symptoms occur in patients with GH deficiency (GHD) and concomitant Chiari type 1malformation during administration of GH replacement therapy (5,6,7,8). GH therapy is also used for Turnersyndrome in patients of short stature, at a dose of 0.35 mg/kg/wk, which is twice the dose ofGHD.