Gowers’ intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome
A 39-year-old female presented with progressive gait disturbance and urinary dysfunction of acute onset in 2010. She had been treated for tetralogy of Fallot in childhood and had been diagnosed with Noonan syndrome on the basis of molecular genetic analysis. She had short stature, webbing of the neck, low-set ears, ocular hypertelorism, ptosis, and developmental delay. She also had multiple untreated cerebral aneurysms. She had CM1 with cerebral hydrocephalus and a large syringomyelia extending from C1 level to the conus []. Although she underwent foramen magnum decompression and a cervical syrinx-subarachnoid shunt in 2003, a large syringeal cavity remained throughout the spinal cord.\nOn admission in 2010, she experienced gait disturbance and dysesthesia of both the legs and perineal region, which indicated conus medullaris syndrome. Routine hematological, serological, and blood coagulation examinations were all normal. Magnetic resonance (MR) imaging showed a large syringomyelic cavity extending from the C1 level to the conus. Both T1- and T2-weighted images showed a heterogeneous mass on the caudal end of the syringomyelic cavity, suggesting hematomyelia []. Partial gadolinium enhancement was revealed at the centre of the hematomyelia.\nEmergent laminectomy was performed from the T12 to L3 level because she developed complete urinary retention. A swollen spinal cord showed xanthochromic deposits because of hematomyelia. After midline myelotomy, dark-red hematoma flowed out, and was carefully removed with suction and CUSA®. During surgery, we could not detect the precise bleeding point. The cranial and caudal edge of the hematoma showed transition into yellowish and firm tissue. Since we suspected this tissue to be intramedullary neoplasm, several pieces of this neoplasm-like tissue were sampled. However, histological examination of the resected tissue showed gliotic spinal cord tissue with hemosiderin pigmentation. The surgical specimen revealed diffuse growth of spindled astrocytic cells with Rosenthal fibers that had no atypical features. We diagnosed spontaneous intrasyringeal hemorrhage associated with CM1, that is, Gowers’ intrasyringeal hemorrhage.\nPostoperatively, the patient's symptoms disappeared except for the sensory disturbance of the lower limbs. Repeated MR imaging performed up to 3 years after the operation showed marked reduction of spinal cord diameter and shrinkage of the syringeal cavity []. There was peripheral hemosiderin deposition but no intramedullary neoplasms in the syringomyelic cavity.