In total, 13 patients comprising 8 (61.5%) males and 5 (38.5%) females with a median age of 3.5 years (interquartile range, 1–10 years) were included in the study. Five patients had cranial pathologies (cerebellar ependymoma, choroid plexus carcinoma, pontine glioma, diffuse astrocytoma, and anti-myelin oligodendrocyte glycoprotein (MOG antibody)-associated disease (MOGAD). Three patients had spinal pathologies (atlantoaxial subluxation, vertebral osteoblastoma, and spinal dural arteriovenous fistula). Two patients had otorhinolaryngological pathologies (laryngomalacia and reactive lymph nodes). Epilepsy and ocular pathologies (strabismus and esotropia) were seen in one patient each.
Five patients underwent surgery, and five patients received medical treatments. The patient with atlantoaxial subluxation was treated conservatively. The patient with an arteriovenous fistula was treated by embolization. The patient with the pontine glioma received radiotherapy. The patients’ clinical and radiological findings are shown in Table 1.
3.1 Case Presentations
Case 1. A 6-year-old boy was admitted to our hospital because of a twisted neck and back pain. Computed tomography (CT) angiography and thoracic MRI revealed a thoracic arteriovenous fistula. The patient underwent endovascular embolization performed by the interventional radiology team. The torticollis improved, and the patient rapidly recovered. No postoperative complications occurred.
Case 2. A 1-year-old girl was admitted to the pediatric emergency clinic with a twisted neck and seizures. Strabismus was found on physical examination, and there were no other relevant findings. Electroencephalography (EEG) showed sharp slow wave discharge at theta frequency in the left parietal region. Brain MRI was normal. She was treated with phenobarbital. The results of the clinical control examination and course were normal. The patient did not have dystonic posture, and paroxysmal torticollis was excluded based on the EEG findings.
Case 3. A 4-year-old girl was admitted to our hospital with tremors in the left arm and foot, difficulty walking, and drooping of the eyes. Her medical history revealed a similar attack before this admission. These findings were accompanied by torticollis. Neck ultrasonography was performed, but no pathology was found. Cranial MRI revealed T2W hyperintense lesions in the right thalamic and left dentate nuclei (Fig. 1a, b). Simultaneously, the oligoclonal band in the cerebrospinal fluid and aquaporin 4 were negative and anti-MOG antibody was positive. The clinical diagnosis was multiphasic acute disseminated encephalomyelitis–associated MOGAD. Despite pulse methylprednisolone treatment, the patient’s course progressed; however, the attacks subsequently improved. She received intravenous immunoglobulin therapy for MOGAD and recovered. Continuous control examinations were normal.
Case 4. A 6-year-old boy was admitted to the pediatric emergency department with gait disturbance and vomiting. Physical examination revealed torticollis on the left side. CT showed a mass lesion in the right cerebellopontine angle (Fig. 2a). The tumor was 53 × 48 mm in size and extended 2.5 cm from the posterior fossa to the spinal canal in axial and sagittal MRI (Fig. 2b, c). Total tumor resection and ventriculoperitoneal shunt were performed. Pathological investigations confirmed the tumor to be World Health Organization grade II ependymoma.
Case 5. A 10-year-old boy with neck pain and torticollis presented to the pediatric emergency department. Cervical MRI revealed atlantoaxial subluxation (Grisel’s syndrome) (Fig. 3a,b). The patient had no signs of infection. Crutchfield traction was performed with a weight of 1 kg. The traction was increased to 2 kg based on the results of X-ray imaging. After completion of traction treatment, the CT control imaging findings were normal.
Case 6. A 2-year-old boy with torticollis and right-eye deviation was admitted to the pediatric emergency clinic. He had no history of trauma. Neck ultrasound findings were suggestive of SCM muscle pathology. Craniocervical MRI revealed multiple ovoid reactive lymph nodes in both cervical regions. A diagnosis of lymphadenitis was made, and treatment was commenced with antibiotics and physical therapy. After successful treatment of lymphadenitis, the patient’s torticollis improved.
Case 7. A 12-year-old girl presented to our pediatric clinic with pain and torticollis. Torticollis was found on physical examination, and other findings were normal. Lateral cervical spine X-ray, CT, and MRI were performed. A bone tumor was detected on the left lamina of the C3 vertebra (Fig. 4a-e). The patient underwent surgery, and subtotal resection was performed. On pathological examination, the lesion was diagnosed as osteoblastoma. The patient’s symptoms improved significantly after the surgery.
Case 8. A 1-year-old boy was admitted to the pediatric emergency department with torticollis. The patient had renal dysplasia and laryngomalacia. SCM muscle ultrasonography showed reactive lymph nodes. Craniocervical CT and MRI findings were normal. The patient was referred to the otolaryngology clinic because of laryngomalacia. After supraglottoplasty, the patient’s symptoms regressed.
Case 9. A 6-year-old boy with torticollis was admitted to the pediatric department because of headache and strabismus that had lasted for 2 days. A heterogeneous hyperdense mass lesion was found in the right lateral ventricle on CT. An isointense heterogeneous mass lesion surrounded by edema was detected on T2W imaging. Total tumor resection was performed. Pathological examination indicated a grade III choroid plexus carcinoma. Chemotherapy and radiotherapy were performed.
Case 10. A 2-year 11-month-old girl presented to the pediatric emergency department with breath-holding spells. Torticollis and weight loss were detected during follow-up. The patient had weight loss, a swallowing disorder, and an abnormal head position, all of which had emerged in recent months. The patient was treated with different methods, including physical therapy for 6 months before admission. A mass measuring 5 × 3 cm was detected at the level of the pons on MRI with contrast enhancement. A diagnosis of pontine glioma was made based on the results of MRI. The patient was treated with radiotherapy.
Case 11. A 3-year-old girl presented to the pediatric emergency department with headache, intermittent vomiting, and torticollis. The patient complained of intermittent sleepiness and exhibited gait disturbance. Regression of fine motor skills and speech disorders had also emerged in recent months. Cranial CT showed a cerebellar mass compressing the fourth ventricle and causing acute hydrocephalus. On T2W MRI, a mass measuring approximately 44 × 45 × 50 mm with solid and cystic components was observed. It was located in the fourth ventricle-cerebellar vermis and accompanied by hyperintense vasogenic edema. The mass was resected, and a ventriculoperitoneal shunt was implanted. The pathological diagnosis was diffuse astrocytoma, World Health Organization Grade 2.
Case 12. A 1-year-old boy presented to the pediatric clinic because of intermittent torticollis and gait disturbance for 2 months. He had no known chronic disease or previous trauma, and neurodevelopment was normal. The results of craniocervical MRI, SCM muscle ultrasonography, and otolaryngological examinations were normal. On ophthalmological examination, hyperopia and astigmatism were detected. Torticollis and gait disturbance were improved by wearing glasses.
Case 13. A 3-year-old boy presented with sudden head tilting to the right while walking or drumming. He had no known diseases in his medical history. He had been born at 38 weeks of gestation, and his developmental stages were consistent with his age. He spoke in short but understandable sentences. The patient exhibited recurrent torticollis attacks that lasted 30 seconds to 5 minutes, followed by complete recovery. He had no accompanying symptoms such as vomiting, pallor, or altered consciousness. On examination for epileptic disorders, EEG findings were normal even on the day of the paroxysmal event. Thin-slice cranial MRI, ophthalmological examination, and hearing examination were also normal. The patient had no reflux. Administration of cyproheptadine for benign paroxysmal vertigo and carbamazepine for movement disorder resulted in no improvement. However, as the condition continued to recur frequently, the patient developed an ataxic gait (Video 1). A genetic analysis was then performed. The patient, whose psychometric development was considered normal for his age, exhibited a pause in psychomotor development within 6 months. During follow-up, his ataxia increased, he lost the ability to walk, and he became immobile. Electromyography revealed sensorimotor neuropathy, and he developed nystagmus. EEG showed epileptic encephalopathic changes. He developed refractory epilepsy after 1 year of follow-up, and cranial MRI showed atrophic changes. While the patient was intubated and undergoing mechanical ventilation, his genetic test revealed a mutation in ADPRHL2.