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The occipital encephalocele of the patient is seen ( a ). Sagittal T1 ( b ) and sagittal T2 ( c ) MR images show cerebellar encephalocele ( arrows ). Axial T2-weighted image ( d ) shows split cord at C1 – C2 level 

The occipital encephalocele of the patient is seen ( a ). Sagittal T1 ( b ) and sagittal T2 ( c ) MR images show cerebellar encephalocele ( arrows ). Axial T2-weighted image ( d ) shows split cord at C1 – C2 level 

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The aim of this study is to investigate the spectrum of underlying disease in children with torticollis. We investigated the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Of the 20 children (13 girls and 7 boys with the mean age of 8 years, ranging 2 months-12 ye...

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Context 1
... torticollis, spasmodic torticollis, Sandifer syndrome, drug-induced torticollis, and conversion disorder [4, 6]. The purpose of this study is to contribute for a better under- standing of the spectrum of underlying diseases in torticollis. We would like to share our experience about what we learned from the children presented with torticollis within the last 2 years. Erciyes University Children s Hospital is a tertiary hospital in the city of Kayseri, in Central Anatolia, Turkey. This hospital is the sole pediatric referral center, for the surrounding cities in the Cappadocia region. We aimed to investigate the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Between May 2012 and November 2014, 20 patients (13 girls and 7 boys with the mean age of 8 years, ranging 2 months 12 years) followed in Erciyes University Children ’ s Hospital, were retrospective- ly who had such complaints as twisted neck, neck pain, weakness of extremity, esotropia, and gait disorder were enrolled in this study. Those cases with congenital muscular torticollis and/or with a history of medication intake were excluded from the study. Ethical permission for a review of all records was granted by the Ethics Committee of Erciyes University. In order to reveal etiology, cranial and/or spinal magnetic resonance imaging (MRI), MR angiography, MR spectrosco- py, CT imaging, sternocleidomastoid (SCM) ultrasound, and pH-meter studies were performed. Eight of the patients have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five children (congenital vertebral anomalies (hemivertebrae, blocked vertebra and segmentation anomalies)), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and microphthalmia), Sandifer syndrome, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected (Table 1). Ten patients underwent surgery; two patients received medical therapy for reflux and benign paroxysmal torticollis; and one patient with torticollis due to muscle spasm and soft tissue inflammation was treated with physiotherapy. Two patients ’ parents refused the treatment. The rest of the patients were regularly observed without any intervention. We would like to present some of the interesting patients in details. Patient#2 A 31-month-old girl was admitted to us with complaints of left-side torticollis, gait disturbance, and left arm pain. On her neurological examination, left ptosis, size differences, and asymmetry between orbits were observed. On the MRI, cervical and thoracic intradural extramedullary mass, thinning of cervical spinal cord, and paravertebral cystic lesion were detected (Fig. 1). She underwent surgery, and gross totally resection was performed via posterior spinal surgery. The histopathological examination was reported as neuroenteric cyst. Patient#5 A 6-month-old girl with complaint of twisted neck was admitted to pediatric neurology outpatient clinic. She was born with caesarean section. There was no history of trauma. SCM muscle ultrasonography was normal. Although she had been treated with physical therapy and home stretching exer- cises, head tilt increased. On physical examination, torticollis, microcephaly, and microphthalmia were detected. Craniocervical MRI was normal. The serological tests performed for congenital infections were normal. After ophthalmologic consultation, she was diagnosed as cataract. She underwent a surgery. In the 6-month follow-up after surgery, the torticollis was resolved. Patient#9 A 7-month-old boy with twisted neck complaints was referred to pediatric neurology department; from his medical history, it was learned that he was evaluated for torticollis at another. The ultrasonography of SCM muscle, ophthalmologic examination, and cranial MRI were normal. There was no history of trauma or illness. On physical examination, scoliosis was detected which was undiagnosed because of inappropriate examination. Patient ’ s MRI confirmed scoliosis (Fig. 2). The patient was referred to the orthopedic clinic. Patient#10 A 12-year-old girl with complaints of torticollis and a mass in the occipital region was referred to the outpatient clinic of pediatric neurology department. Torticollis was not noticed until the age of 3 by her parents. On her physical examination, as well as torticollis, an about 30-mm-length bone defect and encephalocel sac in the occipital were observed (Fig. 3). MRI revealed an encephalocel containing meningeal structures and a posterior part of the vermis, a split cord abnormality in the upper cervical level (Fig. 3). The patient was diagnosed as Chiari type 3 and occipital encephalocel. Surgical treatment was recommended. But, the patient ’ s parents refused the surgical treatment. Patient#11 A 12-month-old girl with strabismus was admitted to pediatric neurology polyclinics. She was followed up for 3 months due to prematurity and germinal matrix hemorrhage. She had a history of six times shunt operations. On the physical examination, torticollis was detected on the left side. She had esotropia in the left eye due to nervous abducens paralysis. Deep tendon reflexes were found to have increased. MRI revealed an arachnoid cyst causing midline shift, compression of brainstem, and dilation of fourth ventricle (Fig. 4). Surgery was recommended for the arachnoid cyst, but the family refused the operation. Patient#12 An 11-month-old girl with the complaints of in- termittent torticollis and lethargy was admitted to pediatric neurology department. There was a history of a similar epi- sode at the age of 6 and 8 months ago, and the tilt was not always on the same side. The duration of the attacks was about 1 – 2 days and ceased spontaneously. Twisted neck, lethargy, and pallor were detected on physical examination during the attack. When any effort was made to straighten the head, it was observed that she had cried and resisted. There was no history for trauma or illness. Mental, motor, and physical de- velopments were normal. Her mother had recurrent headache attacks, which were accompanied by nausea and vomiting in the family history. Cranial, cervical MRI, ophthalmological evaluation, neck USG and pH monitoring, and radiological imaging were normal and so were ophthalmologic and audi- ological examinations. She was diagnosed as paroxysmal torticollis because all the tests to determine the etiology were normal. She was followed up clinically. She still receives an- tiemetic and analgesic treatment during attacks. Patient#13 A 55-month-old girl with a complaint of twisted neck and difficulty in coordinating the walking was admitted to emergency department. There was no history of trauma or illness. Torticollis, lethargy, and difficulty in coordinating movements were detected on the physical examination. Cranial MRI revealed a 51×46×49 mm mass on cerebellar vermis (Fig. 5). She underwent a surgery, and neuronavigation- assisted gross total tumor resection was performed. The histopathological examination was reported to be pilocytic astrocytoma. After the surgery, the torticollis improved completely. Patient#14 A 52-month-old boy with complaints of neck pain that started 2 weeks ago was admitted to the pediatric neurology department. Except for the torticollis, the neurologic examination was normal. There was no history of trauma or systemic illness. Craniocervical MRI revealed a collapse of the C2 corpus, T1W isointense, and T2W hyperintense mass on C2 (Fig. 6). He underwent a surgery and gross total mass resection, autograft, C1-C3 screw fixation were performed. The histopathological examination revealed the diagnosis of eosinophilic granuloma. After the surgery, torticollis was recovered completely. Patient#20 A 12-year-old girl with complaints of torticollis, headache, and vomiting which started 3 days ago was admitted to the emergency department. She had a 2-year history of chronic otitis media. On her medical examination, confusion, torticollis, and right perforated otitis media were observed. MRI revealed subdural empyema on the right cerebellum (Fig. 7). She underwent urgent empyema drainage, and after the surgery, antibiotic treatment was started. She recovered without any neurological sequel. The term torticollis or head tilt may be the initial symptom of a number of illnesses [5]. Differential diagnosis of the cause of a patient ’ s torticollis is critical for the physicians both to choose the correct treatment and not to give rise to a delayed or inappropriate treatment. Torticollis can originate from a variety of primary etiologies such as muscular, ocular, osseous, and neurological abnormalities [3, 4]. The initial medical evaluation of any patient with torticollis should include a thorough medical history and physical examination to rule out underlying hazardous diagnoses. The physical examination for children presenting with acquired torticollis must be focused on vital signs, head, eyes, neck, throat, lungs, and the neurological system [6]. Furthermore, neurological assessment, appropriate radiological examinations, adequate laboratory investigations, and ophthalmological consultation should be performed [7]. In children acquired torticollis due to cervical bony abnormalities, trauma, nasopharyngeal infections, and tumors of the central nervous system is more prevalent [8]. The underlying central nervous system (CNS) pathologies can be originated from three main groups: brain, spinal cord, and spinal nerve root/peripheral nerve. Delay in the diagnosis of these groups lead to progressive ...
Context 2
... system torticollis (brain, spinal cord, spinal nerve root/peripheral nerve), and soft tissue torticollis. The causes of paroxysmal torticollis are benign paroxysmal torticollis, spasmodic torticollis, Sandifer syndrome, drug-induced torticollis, and conversion disorder [4, 6]. The purpose of this study is to contribute for a better under- standing of the spectrum of underlying diseases in torticollis. We would like to share our experience about what we learned from the children presented with torticollis within the last 2 years. Erciyes University Children s Hospital is a tertiary hospital in the city of Kayseri, in Central Anatolia, Turkey. This hospital is the sole pediatric referral center, for the surrounding cities in the Cappadocia region. We aimed to investigate the spectrum of underlying disease and to evaluate the clinical features of the children presented with torticollis in the last 2 years. Between May 2012 and November 2014, 20 patients (13 girls and 7 boys with the mean age of 8 years, ranging 2 months 12 years) followed in Erciyes University Children ’ s Hospital, were retrospective- ly who had such complaints as twisted neck, neck pain, weakness of extremity, esotropia, and gait disorder were enrolled in this study. Those cases with congenital muscular torticollis and/or with a history of medication intake were excluded from the study. Ethical permission for a review of all records was granted by the Ethics Committee of Erciyes University. In order to reveal etiology, cranial and/or spinal magnetic resonance imaging (MRI), MR angiography, MR spectrosco- py, CT imaging, sternocleidomastoid (SCM) ultrasound, and pH-meter studies were performed. Eight of the patients have craniospinal pathologies (cerebellar tumors in three, exophytic brain stem glioma, eosinophilic granuloma of C2 vertebra, neuroenteric cyst of the spinal cord, Chiari type 3 malformation, arachnoid cysts causing brainstem compression, and cerebellar empyema), followed by osseous origin in five children (congenital vertebral anomalies (hemivertebrae, blocked vertebra and segmentation anomalies)), two muscular torticollis (soft tissue inflammation due to subclavian artery catheterization, myositis ossificans with sternocleidomastoid muscle atrophy), and ocular (congenital cataract and microphthalmia), Sandifer syndrome, paroxysmal torticollis, retropharyngeal abscess each in one patients were detected (Table 1). Ten patients underwent surgery; two patients received medical therapy for reflux and benign paroxysmal torticollis; and one patient with torticollis due to muscle spasm and soft tissue inflammation was treated with physiotherapy. Two patients ’ parents refused the treatment. The rest of the patients were regularly observed without any intervention. We would like to present some of the interesting patients in details. Patient#2 A 31-month-old girl was admitted to us with complaints of left-side torticollis, gait disturbance, and left arm pain. On her neurological examination, left ptosis, size differences, and asymmetry between orbits were observed. On the MRI, cervical and thoracic intradural extramedullary mass, thinning of cervical spinal cord, and paravertebral cystic lesion were detected (Fig. 1). She underwent surgery, and gross totally resection was performed via posterior spinal surgery. The histopathological examination was reported as neuroenteric cyst. Patient#5 A 6-month-old girl with complaint of twisted neck was admitted to pediatric neurology outpatient clinic. She was born with caesarean section. There was no history of trauma. SCM muscle ultrasonography was normal. Although she had been treated with physical therapy and home stretching exer- cises, head tilt increased. On physical examination, torticollis, microcephaly, and microphthalmia were detected. Craniocervical MRI was normal. The serological tests performed for congenital infections were normal. After ophthalmologic consultation, she was diagnosed as cataract. She underwent a surgery. In the 6-month follow-up after surgery, the torticollis was resolved. Patient#9 A 7-month-old boy with twisted neck complaints was referred to pediatric neurology department; from his medical history, it was learned that he was evaluated for torticollis at another. The ultrasonography of SCM muscle, ophthalmologic examination, and cranial MRI were normal. There was no history of trauma or illness. On physical examination, scoliosis was detected which was undiagnosed because of inappropriate examination. Patient ’ s MRI confirmed scoliosis (Fig. 2). The patient was referred to the orthopedic clinic. Patient#10 A 12-year-old girl with complaints of torticollis and a mass in the occipital region was referred to the outpatient clinic of pediatric neurology department. Torticollis was not noticed until the age of 3 by her parents. On her physical examination, as well as torticollis, an about 30-mm-length bone defect and encephalocel sac in the occipital were observed (Fig. 3). MRI revealed an encephalocel containing meningeal structures and a posterior part of the vermis, a split cord abnormality in the upper cervical level (Fig. 3). The patient was diagnosed as Chiari type 3 and occipital encephalocel. Surgical treatment was recommended. But, the patient ’ s parents refused the surgical treatment. Patient#11 A 12-month-old girl with strabismus was admitted to pediatric neurology polyclinics. She was followed up for 3 months due to prematurity and germinal matrix hemorrhage. She had a history of six times shunt operations. On the physical examination, torticollis was detected on the left side. She had esotropia in the left eye due to nervous abducens paralysis. Deep tendon reflexes were found to have increased. MRI revealed an arachnoid cyst causing midline shift, compression of brainstem, and dilation of fourth ventricle (Fig. 4). Surgery was recommended for the arachnoid cyst, but the family refused the operation. Patient#12 An 11-month-old girl with the complaints of in- termittent torticollis and lethargy was admitted to pediatric neurology department. There was a history of a similar epi- sode at the age of 6 and 8 months ago, and the tilt was not always on the same side. The duration of the attacks was about 1 – 2 days and ceased spontaneously. Twisted neck, lethargy, and pallor were detected on physical examination during the attack. When any effort was made to straighten the head, it was observed that she had cried and resisted. There was no history for trauma or illness. Mental, motor, and physical de- velopments were normal. Her mother had recurrent headache attacks, which were accompanied by nausea and vomiting in the family history. Cranial, cervical MRI, ophthalmological evaluation, neck USG and pH monitoring, and radiological imaging were normal and so were ophthalmologic and audi- ological examinations. She was diagnosed as paroxysmal torticollis because all the tests to determine the etiology were normal. She was followed up clinically. She still receives an- tiemetic and analgesic treatment during attacks. Patient#13 A 55-month-old girl with a complaint of twisted neck and difficulty in coordinating the walking was admitted to emergency department. There was no history of trauma or illness. Torticollis, lethargy, and difficulty in coordinating movements were detected on the physical examination. Cranial MRI revealed a 51×46×49 mm mass on cerebellar vermis (Fig. 5). She underwent a surgery, and neuronavigation- assisted gross total tumor resection was performed. The histopathological examination was reported to be pilocytic astrocytoma. After the surgery, the torticollis improved completely. Patient#14 A 52-month-old boy with complaints of neck pain that started 2 weeks ago was admitted to the pediatric neurology department. Except for the torticollis, the neurologic examination was normal. There was no history of trauma or systemic illness. Craniocervical MRI revealed a collapse of the C2 corpus, T1W isointense, and T2W hyperintense mass on C2 (Fig. 6). He underwent a surgery and gross total mass resection, autograft, C1-C3 screw fixation were performed. The histopathological examination revealed the diagnosis of eosinophilic granuloma. After the surgery, torticollis was recovered completely. Patient#20 A 12-year-old girl with complaints of torticollis, headache, and vomiting which started 3 days ago was admitted to the emergency department. She had a 2-year history of chronic otitis media. On her medical examination, confusion, torticollis, and right perforated otitis media were observed. MRI revealed subdural empyema on the right cerebellum (Fig. 7). She underwent urgent empyema drainage, and after the surgery, antibiotic treatment was started. She recovered without any neurological sequel. The term torticollis or head tilt may be the initial symptom of a number of illnesses [5]. Differential diagnosis of the cause of a patient ’ s torticollis is critical for the physicians both to choose the correct treatment and not to give rise to a delayed or inappropriate treatment. Torticollis can originate from a variety of primary etiologies such as muscular, ocular, osseous, and neurological abnormalities [3, 4]. The initial medical evaluation of any patient with torticollis should include a thorough medical history and physical examination to rule out underlying hazardous diagnoses. The physical examination for children presenting with acquired torticollis must be focused on vital signs, head, eyes, neck, throat, lungs, and the neurological system [6]. Furthermore, neurological assessment, appropriate radiological examinations, adequate laboratory investigations, and ophthalmological consultation should be performed [7]. In children acquired torticollis due to cervical bony abnormalities, trauma, nasopharyngeal infections, and tumors of the central nervous system is more prevalent [8]. The underlying central nervous system (CNS) pathologies can be ...

Citations

... Although torticollis can occur at any age, it is seen especially in childhood. Many different causes may play roles in the etiology of torticollis in children, ranging from diseases with a good prognosis to conditions with high mortality rates [4]. Congenital muscular torticollis, one of the most common conditions, is a postural musculoskeletal disorder that typically occurs during the neonatal period [5,6]. ...
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Purpose Torticollis is a clinical symptom characterized by an abnormal head posture. It can be caused by simple muscle-related pathologies, space-occupying lesions, neurological diseases, genetic disorders, or even ophthalmic pathologies. In this study, we evaluated the underlying etiologies in patients admitted to pediatric emergency departments and pediatric clinics due to torticollis. Methods This retrospective study included 13 patients admitted with torticollis between July 1, 2018, and December 1, 2021. Results Four patients had cranial pathologies, including cerebellar ependymoma, choroid plexus carcinoma, pontine glioma, and diffuse astrocytoma. One patient had a demyelinating disorder: anti-myelin oligodendrocyte glycoprotein (MOG antibody)-associated disease (MOGAD). Three patients had spinal pathologies, including atlantoaxial subluxation, vertebral osteoblastoma, and spinal dural arteriovenous fistula. Two patients presented with ear, nose, and throat pathologies; specifically, laryngomalacia and reactive lymph nodes. One patient had epilepsy, one had ocular pathologies (strabismus and esotropia), and one had a rare neurodegenerative genetic disorder resulting in epileptic encephalopathy. Conclusions Torticollis is a symptom that may indicate serious underlying conditions. When evaluating children with torticollis, it is important to consider the possibility of a posterior fossa tumor until it is ruled out. Radiologic imaging and a comprehensive ophthalmologic examination should be performed, especially to assess intracranial and ocular pathologies, even if theneurological examination appears normal. This report presents a case of torticollis associated with MOGAD, which, to the best of our knowledge, has not been previously reported. Additionally, the report discusses a wide spectrum of torticollis presentations, including an extremely rare case involving a patient with ADPRHL2mutation who presented with paroxysmal torticollis and developed progressive neurodegeneration. These findings emphasize the importance of investigating multiple underlying etiologies of torticollis.
... Orthoptists can effectively treat OT by using glasses or strabismus surgery [20,23,50]. Timely treatment of OT can prevent complications associated with permanent torticollis including neck pain, headache, muscular and soft tissue changes, facial asymmetry, and scoliosis [20,43,50,51]. ...
Article
Full-text available
Citation: Tan, E.T.C.; Rostamzad, P.; Esser, Y.S.; Pleumeekers, M.M.; Loudon, S.E. Torticollis in Non-Syndromic Unicoronal Craniosynostosis Is Predominantly Ocular Related.
... alert the physician and result in a thorough investigation, including imaging, to rule out a brain tumor [33,34]. The pre-diagnostic symptomatic interval (time from the first symptom until diagnosis) has been investigated in multiple studies over time, revealing median intervals ranging from 21 to 100 days [9,16,18,27,30,32,[35][36][37][38][39][40]. ...
Article
Full-text available
Objective: Childhood brain tumors belong to the cancer type with the longest diagnostic delay, the highest health care utilization prior to diagnosis, and the highest burden of long-term sequelae. We aimed to clarify whether prior musculoskeletal diagnoses in childhood brain cancer were misdiagnoses and whether it affected the diagnostic delay. Study design: In this retrospective, chart-reviewed case-control study we compared 28 children with brain tumors and a prior musculoskeletal diagnosis to a sex and age-matched control group of 56 children with brain tumors and no prior musculoskeletal diagnosis. Using the Danish registries, the cases were identified from consecutive cases of childhood brain cancers in Denmark over 23 years (1996-2018). Results: Of 931 children with brain tumors, 3% (28/931) had a prior musculoskeletal diagnosis, of which 39% (11/28) were misdiagnoses. The misdiagnoses primarily included torticollis-related diagnoses which tended to a longer time interval from first hospital contact until a specialist was involved: 35 days (IQR 6-166 days) compared to 3 days (IQR 1-48 days), p = 0.07. When comparing the 28 children with a prior musculoskeletal diagnosis with a matched control group without a prior musculoskeletal diagnosis, we found no difference in the non-musculoskeletal clinical presentation, the diagnostic time interval, or survival. Infratentorial tumor location was associated with a seven-fold risk of musculoskeletal misdiagnosis compared to supratentorial tumor location. Conclusion: Musculoskeletal misdiagnoses were rare in children with brain tumors and had no significant association to the diagnostic time interval or survival. The misdiagnoses consisted primarily of torticollis- or otherwise neck-related diagnoses.
... Further, few studies have found an increased risk of diagnostic delay in case of torticollis or head tilt as presenting symptoms, (27,31). In children above one year of age, torticollis should alert the physician and result in a thorough investigation, including imaging, to rule out a brain tumor, (32,33). ...
Preprint
Full-text available
Objective Childhood brain tumors belong to the cancer type with the longest diagnostic delay, the highest health care utilization prior to diagnosis, and the highest burden of long-term sequelae. We aimed to clarify whether prior musculoskeletal diagnoses in childhood brain cancer were misdiagnoses and whether it affected the diagnostic delay. Study design In this retrospective, chart-reviewed case-control study we compared 28 children with brain tumors and a prior musculoskeletal diagnosis to a sex and age-matched control group of 56 children with brain tumors and no prior musculoskeletal diagnosis. Using the Danish registries, the cases were identified from consecutive cases of childhood brain cancers in Denmark over 23 years (1996-2018). Results Of 931 children with brain tumors, 3% (28/931) had a prior musculoskeletal diagnosis, of which 39% (11/28) were misdiagnoses. The misdiagnoses primarily included torticollis-related diagnoses which tended to a longer time interval from first hospital contact until a specialist was involved: 35 days (IQR 6-166 days) compared to 3 days (IQR 1-48 days), p = 0.07. When comparing the 28 children with a prior musculoskeletal diagnosis with a matched control group without a prior musculoskeletal diagnosis, we found no difference in the non-musculoskeletal clinical presentation, the diagnostic time interval, or survival. Conclusion Musculoskeletal misdiagnoses were rare in children with brain tumors and did not affect the diagnostic time interval or survival. The misdiagnoses consisted primarily of torticollis- or otherwise neck-related diagnoses.
... In general, ACs are clinically silent lesions. Sometimes they can manifest themselves with clinical symptoms and signs, such as headache, convulsion, focal neurological deficit, and cognitive decline like intellectual disabilities and torticollis [6][7][8][9][10]. In addition to these, thinning of the adjacent bone and macrocephaly may also be seen. ...
... In addition to these, thinning of the adjacent bone and macrocephaly may also be seen. These clinical manifestations depend on the location, size and mass effect of ACs [8][9][10][11][12]. ...
Article
Full-text available
Background/Aim: Arachnoid cysts (ACs) are the collection of fluid, which is similar in composition to cerebrospinal fluid, within the congenitally duplicated arachnoid membrane. ACs are clinically silent lesions, but sometimes they can manifest themselves with headache, convulsion, focal neurological deficits, cognitive decline, torticollis, and macrocephaly. Although the appropriate surgical approach is less clear, there is a consensus on the need for surgical treatment in symptomatic ACs. This study aims to reveal the advantages and disadvantages of cystoperitoneal shunt and microsurgical fenestration techniques. Methods: One hundred ninety-one consecutive patients from 1 month to 15 years old with AC were evaluated for suitability. Sixteen patients who underwent surgery were included in the study. Medical records of the patients with AC managed at our institutions were retrospectively collected and analyzed. Sixteen of 191 patients underwent surgical treatment via craniotomy for microsurgical cyst fenestration (CF) and cysto-peritoneal shunting (CS). CF was performed with partial cyst wall excision in all patients. Results: Seizure was the most common presentation in the patients, followed by headache and trauma, respectively. In our series the most common indications of the surgery were increased intracranial pressure (IICP). CF was performed in nine patients, and CS was performed in seven as the primary treatment. CS-related complications, such as infection (n = 2), dysfunction (n = 2) and intraabdominal abscess (n = 1) were the most commonly observed complications. No infections were observed after CF, but subdural hematoma was observed in one child. Conclusions: Although the most common symptoms in cases with arachnoid cysts are headache, rare symptoms, such as torticollis, may exist. Due to this, clinicians should reveal the cyst-complaint relationship first. Given the increased complications of CS, in addition to shunt independency and being free from shunt-related complications, the microsurgical CF with wide excision of the membranes seems to be the more preferable surgical option.
... Therefore, healthcare providers should carefully implement initial and ongoing evaluations while managing CMT, particularly when the patient has atypical signs and symptoms which suggest non-muscular congenital torticollis. Red flags for further evaluation include atypical cranial deformation, acute-onset, late-onset at 6 months or older, abnormal neurologic signs, visual abnormalities, and worsening of or unresponsiveness to physical therapy (6,19). ...
Article
Full-text available
Introduction: Congenital muscular torticollis (CMT) is the most common cause of torticollis in infants; other causes, including osseous, ocular, and central nervous system torticollis can easily be overlooked. We report two rare cases of CMT with concurrent osseous or ocular torticollis. Case 1: A 1-month-old female infant with a right neck mass and right-tilting head posture was referred. Neck ultrasonography showed diffuse hypertrophy and hyperechoic findings on the right sternocleidomastoid (SCM) muscle, which was consistent with right CMT. A clavicle X-ray imaging was conducted to identify an associated fracture due to birth trauma on the same day and a suspected congenital vertebral anomaly was coincidentally found. Subsequent three-dimensional computed tomography of the cervical spine showed a T1 hemivertebra causing the right-tilting head. The patient was diagnosed with the concurrent manifestation of CMT and congenital osseous torticollis. Case 2: A 3-month-old male infant with a 20° head tilt to the right with a limited cervical range of motion was referred. Neck ultrasonography showed a fibromatosis colli in the right SCM, suggesting CMT. He proceeded to physical therapy for seven months; however, there was little clinical improvement in his head and neck posture. The patient underwent an additional ophthalmologic examination and orbital magnetic resonance imaging (MRI) at 10 months of age. The result showed congenital agenesis of the left fourth cranial nerve with hypoplasia of the superior oblique muscle causing the right-tilting of the head. Ultimately, the boy was diagnosed with a concurrent manifestation of CMT and congenital ocular torticollis. Conclusion: Unless careful examinations are conducted, congenital vertebral anomalies and congenital agenesis of the fourth cranial nerve can go unnoticed in the present two cases. If a patient with CMT displays unusual features or does not respond to physical therapy, clinicians should consider not only a differential diagnosis but also concurrence with other causes of congenital torticollis.
... The head position can be improved by appropriate ophthalmic management including the use of glasses or surgery in patients with ocular torticollis. Primary clinicians should be aware of the clinical features and physical findings of ocular torticollis, as these will enable an accurate diagnosis and referral to an ophthalmologist to avoid secondary non-ophthalmic issues including facial asymmetry, plagiocephaly, and scoliosis [20,21]. ...
Article
Full-text available
Ocular disease is one of the causes of abnormal head positioning. Conventionally, the behavioral characteristics of ocular torticollis patients are different from those of non-ocular torticollis patients, though research addressing the significance of this difference is yet limited. This prospective, cross-sectional study aims to develop a questionnaire based on the clinical features in children with abnormal head posture being ocularly assessed. Children aged ≥ 6months who visited our rehabilitationmedicine clinic with a chief complaint of abnormal head posture were included. Patients with apparent orthopedic and neurological diseases were excluded. A 10-item questionnaire was developed to analyze the behavioral characteristics of patients. The patients were divided into ocular and non-ocular torticollis groups according to ophthalmologic examination results. Thirty-four and 13 patients were assigned to the nonocular torticollis and ocular torticollis groups, respectively. Five questions were finally selected and the questionnaire was scored as the sum of the scores for the each questions (yes = 1 point, no = 0 point). The median (interquartile range) score of the ocular torticollis group (3.0 (3.0–4.0)) was significantly higher than that of the non-ocular torticollis group (2.0 (1.0–3.0); p = 0.000).
... Other findings such as strabismus, diplopia, head tilt, and mental disturbances were less frequent. 7 In medulloblastoma, theinitial treatment approach is surgery. The main purpose of surgery is total or neartotal resection of the tumor and, if possible, remaining residual tumor less than 1.5 cm2, and this is one of the main prognostic factors. ...
Article
Full-text available
Background: Medulloblastoma is the most common central nervous system tumor in childhood. This study aims to evaluate the clinical features, treatments, and outcomes of pediatric patients diagnosed with medulloblastoma Materials and Method:Between 2006 and 2019, the medical records of children with medulloblastoma were reviewed retrospectively. Patients who died after surgery, before chemotherapy or radiotherapy were not included in the survival analysis Results: During the study period, 38 children were diagnosed with medulloblastoma. Twenty-one of the patients were male (55.3%) and 17 were female (44.7%). The ages of the children ranged from 3 months to 17 years (median age 8 years). The ages of five patients were under 3 years (13.1%). The most common complaints were headache (n: 26, 68.4%), imbalance (n: 21, 55.3%), and vomiting (n: 20, 52.6%). The mass sizes ranged between 3 and 6 cm in 32 patients (84.2%). At the time of diagnosis, 5 patients had seeding metastasis (13.1%). The most commonlyused chemotherapy protocol included vincristine, cisplatin, etoposide (60.5%). Five patients died after surgery without any chemotherapy or radiotherapy. Of the 33 patients included in the life analysis, 12 died (36.4%). Follow-up times ranged from 2 months to 14 years (median, 44 months). The overall survival rate was 59.1%. Eight patients had relapsed (24.2%). Late relapse was detected in 3 of the relapsed patients (relapse times were the 91st, 69th, and 72nd months). Conclusions: It is possible to achieve satisfactory treatment results in children with medulloblastoma using international treatment guidelines and recommendations, with an experienced professional team dedicated to pediatric neurooncology.
... In the literature, underlying conditions causing torticollis are well described. Different etiologies of torticollis include congenital muscular torticollis, osseous pathologies, central nervous system/ peripheral nervous system pathologies, increased intracranial pressure, ocular pathologies, nonmuscular soft tissue, benign paroxysmal torticollis, Sandifer syndrome, drug-induced torticollis, and conversion disorder (4,21,26,27). Therefore, a better understanding of the spectrum of underlying diseases in torticollis is essential in making a correct diagnosis to be able to select the appropriate treatment method (6,9). ...
... The physical examination for children presenting with acquired torticollis should be complete and must be focused on the vital signs, head, eyes, neck, throat, lungs, and neurological system. In addition, appropriate radiological examinations and adequate laboratory investigations are mandatory (20,21,27,28). ...
... Although pediatric tumors may show a variety of clinical symptoms, torticollis is one of the critical signs of central nervous system tumors in children. It may be the primary or initial sign related to their location or size (9,17,21,27,29). ...
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Aim: Torticollis can originate from a wide variety of different disorders. Objective: We aimed to investigate the underlying conditions in children with torticollis. Material and methods: Between May 2016 and December 2019, 24 patients (10 girls and 14 boys; mean age, 8 years) presenting with twisted neck, neck pain, weakness of extremities, imbalance, and gait disorder were evaluated retrospectively. Results: Five of the patients had cranial pathologies (cerebellar anaplastic ependymoma and medulloblastoma, brain stem glioma, atypical teratoid rhabdoid tumor, and acute disseminated encephalomyelitis), and five of the patients had spinal pathologies (idiopathic intervertebral disc calcification, vertebral hemangiomatosis, compression fracture, multiple hereditary exostoses, and Langerhans cell histiocytosis at C4). Six of the patients had ocular pathologies (strabismus, Duane syndrome, and Brown syndrome each in two patients). Four patients had otorhinolaryngological infections (Sandifer syndrome, esophageal atresia, reflux, and spasmus nutans, with one patient each). Detailed clinical physical examination and necessary laboratory investigation were performed for all patients. Conclusion: Torticollis is a sign that is not always innocent and may herald an underlying severe disease. Misdiagnosis can lead to wrong and unnecessary surgical procedures and treatments, and sometimes, the results can be damaging due to underlying severe conditions if diagnosed late. In addition, we first report a case of vertebral hemangiomatosis and temporomandibular joint ankylosis that presented with torticollis in the English medical literature.
... In comparison to other putative triggers of comorbid MPS, focal infectious and inflammatory conditions have been less frequently described in the literature. The potential of localized inflammatory and infectious processes to cause muscle irritation, leading to contraction, stiffness, and pain, has been widely documented in multiple clinical syndromes, such as nuchal rigidity accompanying meningitis [89], torticollis accompanying head and neck infections [90], and abdominal rigidity and guarding associated with intra-abdominal pathologies [91]. Nevertheless, even though the involved muscles are typically contracted, tender, and of limited range of motion, whether these conditions should be viewed as secondary localized MPS is debatable. ...
... The association between chronic pain and mental health conditions is well established and is widely believed to be bidirectional [88][89][90]. The prevalence of depression and anxiety is increased in individuals with chronic pain, and the prevalence of pain is increased in individuals with affective disorders and PTSD [98][99][100]. ...
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Myofascial pain syndrome is widely considered to be among the most prevalent pain conditions, both in the community and in specialized pain clinics. While myofascial pain often arises in otherwise healthy individuals, evidence is mounting that its prevalence may be even higher in individuals with various comorbidities. Comorbid myofascial pain has been observed in a wide variety of medical conditions, including malignant tumors, osteoarthritis, neurological conditions, and mental health conditions. Here, we review the evidence of comorbid myofascial pain and discuss the diagnostic and therapeutic implications of its recognition.