Different etiologies of acquired torticollis in childhood

Introduction

Torticollis can be congenital or may be acquired in childhood. Acquired torticollis occurs because of another problem and usually presents in previously normal children. The causes of acquired torticollis include ligamentous, muscular, osseous, ocular, psychiatric, and neurologic disorders.

Objective

We performed this study to evaluate the underlying causes of torticollis in childhood.

Material and methods

Ten children presented with complaints of torticollis between April 2007 and April 2012 were enrolled in this study. The additional findings of physical examination included neck pain, twisted neck, walking disorder, imbalance, and vomiting The identified etiologies of the enrolled children was acute disseminated encephalomyelitis in a 2.5-year-old boy, posterior fossa tumor in a 10-month-old boy, spontaneous spinal epidural hematoma in a 5-year-old hemophiliac boy, cervical osteoblastoma in a 3-year-old boy, arachnoid cyst located at posterior fossa in a 16-month-old boy, aneurysm of the anterior communicating artery in a 6-year-old girl, pontine glioma in a 10-year-old girl, and a psychogenic torticollis in a 7-year-old boy were presented.

Conclusion

There is a wide differential diagnosis for a patient with torticollis, not just neurological in etiology which should be considered in any patient with acquired torticollis. Moreover, early diagnosis of etiological disease will reduce mortality and morbidity. Therefore, clinicians managing children with torticollis must be vigilant about underlying neurological complications.     

Intradural lipoma of the cervicothoracic spinal cord with intracranial extension

Introduction

Intradural spinal lipoma is rare and seen about 1% of all tumors of the spinal cord. Lipomas of the cervical location with intracranial extension are extremely rare and are described as intramedullary or subpial location.

Case

A 12-year-old female with lipoma of the cervicothoracic spinal cord demonstrated progressive quadriparesis. The patient underwent surgery with decompression of the affected craniocervical location.

Discussion

In the reported case, we describe a rare intradural lipoma of the cervicothoracic spinal cord with posterior fossa extension in the child, and the relevant English medical literature is reviewed.     

Pseudotumor cerebri manifesting as stiff neck and torticollis

Stiff neck and torticollis are significant signs of neurologic disease. Nuchal rigidity is often associated with meningitis, subarachnoid hemorrhage, and posterior fossa tumor. Torticollis may be encountered in inflammatory disorders, such as cervical lymphadenitis, or it can be a sign of spinal cord syrinx or of central nervous system neoplasm. We report on three prepubertal children in whom stiff neck and torticollis were the presenting signs of pseudotumor cerebri. In all, the removal of 6-7 mL of cerebrospinal fluid led to prompt relief of symptoms and signs. We suggest that in the presence of unexplained stiff neck or torticollis in children, the optic discs should be examined to exclude pseudotumor cerebri.     

Syringobulbia associated with posterior fossa meningioma: a review of the literature

Purpose

Syringomyelia can be defined as a degenerative, progressive and chronic spinal cord disease. Its association with tumors of the posterior cranial fossa (PCF) is a rare condition.

Methods

The authors report a rare case of syringobulbia consequent to a meningioma originating from PCF in a 17-year-old female, discussing the pathogenetic mechanism of development and the resolution of the syrinx cavity after surgical procedure.

Results

The postoperative period was uneventful without complications. At 6-month follow-up, MRI revealed complete tumor removal with resolution of the syrinx cavity.

Conclusions

In cases of syringomyelia and tonsillar herniation associated with PCF meningioma, the tumor resection allows to eliminate the mass effect and increases the size of the posterior fossa with the progressive ascent of the cerebellar tonsils and the consequent reduction of their downward movement with systolic pulsation. The re-establishment of a normal anatomical condition led to the gradual disappearance of syrinx and hydrocephalus.     

Fronto-cerebellar fiber tractography in pediatric patients following posterior fossa tumor surgery

Objective

Fronto-cerebellar association fibers (FCF) are involved in neurocognitive regulatory circuitry. This may also be relevant for cerebellar mutism syndrome (CMS) as a complication following posterior fossa tumor removal in children. In the present study, we investigated FCF by diffusion tensor imaging in affected children and controls.

Methods

Diffusion-weighted MR imaging at 3 T (GE) allowed tractography of FCF using a fiber tracking algorithm software (Brainlab 2.6) in 29 patients after posterior fossa tumor removal and in 10 healthy peers. Fiber tract volumes were assessed and fiber signals were evaluated in a semiquantitative manner along the anatomical course.

Results

Volumes of FCF revealed significant diminished values in pediatric patients with symptoms of CMS (19.3?±?11.7 cm³) when compared with patients without symptoms of CMS (26.9?±?11.9 cm³) and with healthy peers (36.5?±?13.82 cm³). In medulloblastoma patients, the volume of FCF was also significantly reduced in patients with symptoms of CMS despite having the same antitumor therapy. In semiquantitative analysis of the fiber tract signals, differences were observed in the superior cerebellar peduncles and midline cerebellar structures in patients with symptoms of CMS.

Conclusion

Using DTI, which allows the visualization of fronto-cerebellar fiber tracts, lower FCF tract volumes and diminished fiber signal intensities at the level of the superior cerebellar peduncles and in midline cerebellar structures were identified in patients with postoperative symptoms of CMS. Our study refers to the role of a neural circuitry between frontal lobes and the cerebellum being involved in neurocognitive impairment after posterior fossa tumor treatment in children.     

Intervertebral disc calcification with neurological symptoms in children: report of conservative treatment in two cases

Purpose

Intervertebral calcifications are rare in the paediatric population. Two cases of children with symptomatic intervertebral calcifications responsible for spinal cord compression and neurological compromise are presented.

Methods

The data of two children treated conservatively for a symptomatic intervertebral calcification responsible for spinal cord compression and neurological compromise were retrospectively reviewed.

Results

Frontal and lateral radiographs are usually sufficient to determine the presence and extent of the calcified cervical disc protrusion. Conservative treatment with antalgics and bracing was applied in both cases. The two patients were completely free of symptoms 4 weeks after initial treatment. Magnetic resonance imaging screening showed a complete vertebral canal clearance at final follow-up.

Conclusion

Despite the lack of significance due to the small number of patients, conservative treatment should be considered in children with moderate neurological symptoms due to calcified disc protrusion.     

Symptomatic Cerebral Vasospasm Following Resection of a Medulloblastoma in a Child

Background

Vasospasm may occur following intracranial tumor resection but is uncommon following resection of tumors in the posterior fossa.

Methods

Case report.

Results

Here, we report an unusual pediatric case of symptomatic cerebral vasospasm following resection of a posterior fossa medulloblastoma in a 10-year-old child. CT angiogram and serial Transcranial Doppler (TCD) studies confirmed the presence of vasospasm and response to hemodynamic augmentation therapy, resulting in favorable outcome.

Conclusion

This case illustrates an unusual complication of posterior fossa tumor resection, and the potential utility of TCD studies in the detection and management of vasospasm in pediatric neurocritical care.     

Prognostic Factors of Spinal Cord Decompression Sickness in Recreational Diving: Retrospective and Multicentric Analysis of 279 Cases

Background

This study aims to determine the potential risk factors associated with the development of severe diving-related spinal cord decompression sickness (DCS).

Methods

Two hundred and seventy nine injured recreational divers (42 ± 12 years; 53 women) presenting symptoms of spinal cord DCS were retrospectively included from seven hyperbaric centers in France and Belgium. Diving information, symptom latency after surfacing, time interval between symptom onset and hyperbaric treatment were studied. The initial severity of spinal cord DCS was rated with the Boussuges severity score, and the presence of sequelae was evaluated at 1 month. Initial recompression treatment at 2.8 ATA with 100% oxygen breathing or deeper recompression up to 4 or 6 ATA with nitrogen or helium–oxygen breathing mixture were also recorded.

Results

Twenty six percent of DCS had incomplete resolution after 1 month. Multivariate analysis revealed several independent factors associated with a bad recovery: age ≥42 [OR 1.04 (1–1.07)], depth ≥39 m [OR 1.04 (1–1.07)], bladder dysfunction [OR 3.8 (1.3–11.15)], persistence or worsening of clinical symptoms before recompression [OR 2.07 (1.23–3.48)], and a Boussuges severity score >7 [OR 1.16 (1.03–1.31)]. However, the time to recompression and the choice of initial hyperbaric procedure did not significantly influence recovery after statistical adjustment.

Conclusions

Clinical symptoms of spinal cord DCS and their initial course before admission to the hyperbaric center should be considered as major prognostic factors in recovery. A new severity score is proposed to optimize the initial clinical evaluation for spinal cord DCS.     

Lower urinary tract symptoms of neurological origin in urological practice

Purpose

The present study aimed to reveal the neurological origin of lower urinary tract symptoms (LUTS) in routine urological examination.

Methods

We retrospectively analyzed 70 cases to identify cases in which the neurologist and/or urologist suspected the relation between neurological diseases and LUTS. The compromised neurological areas were categorized into brain and spinal cord based on the appearance time of LUTS and presence/absence of disease specificity. We classified the lesion site based on the imaging result and the neurologic finding. We compared LUTS appearance time: from LUTS appearance till the first visit to urologist (first visit urologist) and from the aforementioned visit till the neurological diagnosis confirmation (neurological diagnosis). Finally, we conducted a detailed investigation of the surgical cases, as well as those with urodynamic studies (UDS) performed prior to the neurological examination.

Results

The neurological diseases involved 31 cases (44 %) of multiple system atrophy, 11 (16 %) of multiple sclerosis, and 4 (6 %) of Parkinson’s disease. Associated symptoms comprised gait disturbance (38) and lower limb dysesthesia (20), while no associated symptoms were observed in 13 (19 %). Both the periods proved significantly shorter for spinal cord disease. Urological surgeries were performed in 10 cases (14 %). UDS findings revealed 10 cases of decrease in bladder compliance, and 15 of detrusor underactivity; no normal cases were observed.

Conclusions

Consideration of detailed medical history, enforcement of UDS, and closer cooperation between urologists and neurologists are required to ascertain early and correct diagnosis, and to avoid unnecessary surgery.     

Emergent medical and surgical management of mediastinal infantile hemangioma with symptomatic spinal cord compression: case report and literature review

Purpose

We report an extremely rare case of a patient with a large, cervical, and upper thoracic cutaneous hemangioma associated with a separate, underlying mediastinal hemangioma extending to the epidural space causing significant spinal cord compression.

Case report

A 6-week-old female presented with decreased movement of her right arm and bilateral lower extremity hyperreflexia. Her arm weakness progressed to paralysis over the course of 24 h. She underwent emergent surgical decompression and medical therapy with propranolol and systemic corticosteroids.

Conclusion

While several recent reports have described dramatic responses of hemangiomas to propranolol, this is the first case in which it was used as part of a multimodal approach to symptomatic spinal cord compression. The infant improved immediately after surgery. She is neurologically intact and has radiographic regression of the hemangiomas on follow-up examination 6 months later.     

Correction of Chiari malformation due to closure of a concomitant thoracic meningocele

Introduction

Chiari malformations are characterized by hindbrain herniation. Historically, some types have been linked to neural tube defects, but the causal relationship between the two conditions is still unclear.

Case report

We report on a full-term male neonate with a prenatally diagnosed posterior thoracic meningocele, whose MRI demonstrated Chiari malformation. The meningocele was closed in the second week of life. The Chiari-related symptoms rapidly improved following surgery. Postoperative MRI at 7 months of age showed ascent of the cerebellar tonsils to a normal position.

Discussion

This case suggests that the traction on the cerebellum by a fixed spinal cord may play a role in the pathogenesis of the multifaceted Chiari malformations.     

Syringomyelia and tethered cord in children

Introduction

The presence of syringomyelia varies in patients with different forms of dysraphism; from 21 % to 67 %. Only around 60 % of patients with syringomyelia is likely to experience symptoms related to it.

Pathophysiology

Many theories have been outlined for the creation of syringomyelia. The one most applicable to tethered cord dictates that tensile radial stress may create a syrinx in a previously normal cord tissue and transiently lower pressure may draw in interstitial fluid, causing the syrinx to enlarge if fluid exit is inhibited. In addition, arachnoiditis increases flow resistance in the spinal subarachnoid space, altering temporal CSF pulse pressure dynamics, which promotes entry of CSF in to the spinal cord.

Clinical presentation

There is a significant overlap between the symptoms that are due to tethered cord and syringomyelia, both in newly presenting patients with coexisting syringomyelia, and in previously treated patients who during follow-up present recurrent symptoms and a new syringomyelia cavity.

Treatment

The treatment of patients with tethered cord and syringomyelia is directed towards untethering the cord from its most caudal region upwards and restoring spinal anatomy with reestablishment of unobstructed CSF flow in the subarachnoid space. Only if complete untethering has been ensured and syringomyelia deteriorates, then surgical treatment can be directed against the syrinx. In patients with spinal dysraphism and coexisting hydrocephalus, radiological presentation of new syringomyelia or deterioration of previously known syringomyelia may signify shunt obstruction “until proven otherwise”.

Conclusion

In most occasions, satisfactory cord untethering addresses the development of syringomyelia.     

Multilevel thoracic hemangioma with spinal cord compression in a pediatric patient: case report and review of the literature

Purpose

Vertebral hemangiomas are common benign vascular tumors of the spine. It is very rare for these lesions to symptomatically compress neural elements. If spinal cord compression does occur, it usually involves only a single level. Multilevel vertebral hemangiomas causing symptomatic spinal cord compression have never been reported in the pediatric population to the best of our knowledge.

Methods

We report the case of a 15-year-old boy presenting with progressive paraparesis due to thoracic spinal cord compression from a multilevel thoracic hemangioma (T5–T10) with epidural extension.

Results

Because of his progressive neurological deficit, he was initially treated with urgent multilevel decompressive laminectomies from T4 to T11. This was to be followed by radiotherapy for residual tumor, but the patient was unfortunately lost to follow-up. He re-presented 3 years later with recurrent paraparesis and progressive disease. This was treated with urgent radiotherapy with good response. As of 6 months follow-up, he has made an excellent neurological recovery.

Conclusions

In this report, we present the first case of a child with multilevel vertebral hemangiomas causing symptomatic spinal cord compression and review the literature to detail the pathophysiology, management, and treatment of other cases of spinal cord compression by vertebral hemangiomas.     

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein–Taybi syndrome

Object

Rubinstein–Taybi syndrome (RSTS) is a rare condition with characteristic genetic and clinical features. The presence of variable vertebral and neural axis abnormalities has been reported in the literature. We describe the possible association of multiple different spinal anomalies in these patients.

Results

The radiological exams of two RSTS patients (a female and male of 11 and 13 years) have been reviewed. Both patients presented the simultaneous association of craniovertebral junction bony abnormalities (occipito-C1 condyle subluxation and posterior C2–C3 arches fusion), Chiari I malformation, spinal cord syrinx, low-lying conus medullaris, and scoliosis.

Conclusion

An association of different spinal cord anomalies is possible in RSTS patients and has to be investigated with a comprehensive neuroimaging study in order to address the proper treatment and prevent the development of neurologic deficits.     

Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome

Introduction

We report a case of a 9-year-old boy with Tourette syndrome (TS) who developed progressive quadriparesis that was more severe in the upper extremities.

Case report

He had experienced frequent and violent motor tics consisting of hyperflexion and hyperextension for years. Magnetic resonance imaging (MRI) revealed a focal high-signal intensity cord lesion and adjacent cervical spondylotic changes. Initially, the patient was observed for several months because of diagnostic uncertainty; his neurological status had improved and later worsened again. Anterior cervical discectomy of C3–4 and fusion immediately followed by posterior fixation were performed. After surgery, the neck collar was applied for 6 months. His neurological signs and symptoms improved dramatically. TS with violent neck motion may cause cervical spondylotic myelopathy at an early age.

Conclusions

The optimal management is still unclear and attempts to control tics should be paramount. Circumferential fusion with neck bracing represents a viable treatment option.     

The gut or the brain?—gastrointestinal misdiagnoses of infantile brain tumors

Purpose

Central nervous system tumors account for the largest number of cancer deaths in childhood. Brain tumors in infants less than 3 years of age are rare; symptoms and signs are often non-specific. Patent anterior fontanelles/unfused cranial sutures in infants can accommodate rising intracranial pressure without acutely compromising the neurological status. We hypothesize that vomiting as the initial symptom, in infants with brain tumors, can possibly lead to extensive gastrointestinal evaluation, delaying the diagnosis of intracranial pathology.

Methods

We conducted a retrospective chart review of infants less than 3 years of age diagnosed with brain tumors over the period of 4.7 years from February 2008 to October 2012 at Inova Children’s Hospital, Virginia.

Results

We identified three of 21 patients (14.3 %) who presented with vomiting and underwent initial or extensive abdominal imaging investigations. All patients were relatively young (median age, 5.4 months). Working diagnoses were pyloric stenosis, viral gastritis, or gastroesophageal reflux. All patients eventually had computed tomography of the head to rule out increased intracranial pressure and were found to have large brain tumors with obstructive hydrocephalus. Tumor locations were cerebral hemispheres (2/3) and posterior fossa (1/3). All patients had biologically aggressive high-grade tumors (glioblastoma multiforme, atypical teratoid rhabdoid tumor, and anaplastic/large cell medulloblastoma) and died within weeks of diagnosis.

Conclusions

Our study highlights a clinical challenge of persistent vomiting in infants, which in the absence of convincing gastrointestinal pathology after evaluation should raise the physician’s suspicion of an underlying intracranial pathology even if neurological features are absent.     

Intramedullary spinal cord cavernous malformations presenting with unexplained chest pain: case report and review of the literature

Introduction

Intramedullary spinal cord cavernous malformations are very uncommon in pediatric age, with only 26 cases reported within the available literature to date. The diagnosis of such lesions is often difficult and delayed because of their rarity and bizarre clinical presentation.

Case report

We report a case of intramedullary spinal cord cavernous malformation in a girl, in which sudden onset chest pain was the only presenting symptom, followed by appearance of neurological deficits after 5 days. We review the available literature discussing clinical features and principles of management of these lesions in children.     

Inappropriate surgical interventions for midline fusion defects cause secondary tethered cord symptoms: implications for natural history report of four cases

Introduction

The causes of tethered spinal cord are various. In order to release the tethering effect of these malformations, the surgical interventions must include removal of all tethering components, reconstruction of the neural tube and sectioning of tight filum terminale as well.

Cases

The cases reported in this paper have had an operation many years before for various developmental defects. After a certain period of time (5–10?years) of the first operation, the patients reapplied to the hospital with various symptoms of spinal cord tethering, either vertical or horizontal.

Discussion

At surgical intervention, it was noted that inappropriate surgical procedures caused retethering of the spinal cord in all patients. Postoperative period of all patients were uneventful. All patients declared relief in their symptoms. We would like to draw attention that untreated (or inappropriately treated) midline developmental defects will invariably cause syndrome of tethered cord. Consequently, prophylactic surgical untethering must be applied to all patients with developmental midline defects as soon as possible.

Conclusion

It looks that tethered cord symptoms invariably appear as enough negative influence accumulates as the time passes. Elapsed time may vary but unpleasant end result invariably arrives. While these cases with tethered spinal cord develop progressive neurological symptoms, prophylactic and appropriate surgical intervention should be considered as early as possible. There is no acceptable rationale to wait for the appearance of tethered cord syndrome symptoms to perform surgical untethering of the spinal cord because of the probability of irreversibility of the symptoms (incontinence of urine in particular) of tethered spinal cord syndrome.