Foix-Chavany-Marie Syndrome case reports

Foix-Chavany-Marie Syndrome case reports

Demaerel R, Klein S, Van Calenbergh F. Syndrome of the Trephined presenting as Foix-Chavany-Marie syndrome [published online ahead of print, 2020 Jun 30]. Clin Neurol Neurosurg. 2020;196:106058. doi:10.1016/j.clineuro.2020.106058


Digby et al.from the Division of Neurosurgery, Addenbrooke’s HospitalCambridge, describes a case of a 62-year-old man who developed Foix-Chavany-Marie syndrome subsequent to traumatic brain injury. The initial presentation of the syndrome was profound loss of voluntary control of orofacial muscles, causing a loss of speech and impairment of swallow. Over subsequent months, a remarkable recovery of these functions was observed. The natural history of FCMS in this case was favourable, with good improvement in function over months. Furthermore, the pattern of bilateral opercular injury was more readily recognised on MRI than on CT, supporting the role of MRI in cases of traumatic brain injury 1).


Nitta et al.from the Department of Neurosurgery, Shiga University of Medical Science, Setatsukinowa-cho, Otsu, reported a Foix-Chavany-Marie syndrome after unilateral anterior opercular contusion 2).


Martino et al. from the Department of Neurological Surgery, Hospital Universitario Marqués de Valdecilla and Instituto de Formación e Investigación Marqués de Valdecilla, Santander, reported a 25-year-old right-handed man with an incidentally diagnosed right frontotemporoinsular tumor who underwent surgery using an asleep-awake-asleep technique with direct cortical and subcortical electrical stimulation and a transopercular approach to the insula. While resecting the anterior part of the pars opercularis the patient suffered sudden anarthria and bilateral facial weakness. He was unable to speak or show his teeth on command, but he was able to voluntarily move his upper and lower limbs. This syndrome lasted for 8 days. Postoperative diffusion tensor imaging tractography revealed that connections of the pars opercularis of the right inferior frontal gyrus with the frontal aslant tract (FAT) and arcuate fasciculus (AF) were damaged. This case supplies evidence for localizing the structural substrate of FCMS. It was possible, for the first time in the literature, to accurately correlate the occurrence of FCMS to the resection of connections between the FAT and AF, and the right pars opercularis of the inferior frontal gyrus. The FAT has been recently described, but it may be an important connection to mediate supplementary motor area control of orofacial movement. The present case also contributes to our knowledge of complication avoidance in operculoinsular surgery. A transopercular approach to insuloopercular gliomas can generate FCMS, especially in cases of previous contralateral lesions. The prognosis is favorable, but the patient should be informed of this particular hazard, and the surgeon should anticipate the surgical strategy in case the syndrome occurs intraoperatively in an awake patient 3).


In 2013 Theys et al. from the Department of Neurosurgery, University Hospitals Leuven, reported a 48-year-old male patient recovering from complete anarthria after unilateral right-sided subcortical hemorrhagic stroke is described. The main outcome measures included clinical and neuroimaging data at three different time points (at the onset of symptoms, after 6 weeks and after 6 months). At 6 weeks, increased activations in the right and left frontal operculum were found and were followed by a trend towards normalization of the activation pattern at 6 months. These results suggest a role of anterior opercular regions in recovery from anarthria after subcortical stroke 4).


In 2009 Campbell et al. from the Department of Neurosurgery, Institute of Neurological Sciences, Southern General Hospital, Glasgow, presented a transient manifestation of the syndrome, in a patient who suffered two sequential traumatic brain injuries 5).


In 2006 Duffau et al. from the Department of Neurosurgery, Hôpital de la Salpêtrière, Paris reported in 42 patients a Foix-Chavany-Marie syndrome in 3 cases 6).


In 2003 they reported a 26-year-old right-handed man experienced partial seizures that were poorly controlled by antiepileptic drugs during a 2-year period as a result of a right insulo-opercular low grade glioma, leading to the proposal of surgical resection. In addition, 1 year before the operation, the patient experienced a severe brain injury that resulted in a coma. A computed tomographic scan revealed left opercular contusion. The patient recovered completely within 6 months.

Intraoperative corticosubcortical electrical functional mapping was performed along the resection, allowing the identification and preservation of the facial and upper limb motor structures. A subtotal removal of the glioma was achieved. The patient had postoperative anarthria, with loss of voluntary muscular functions of the face and tongue, and he had trouble chewing and swallowing. All of these symptoms resolved within 3 months.

These findings provide insight into the use of surgery to treat a right insulo-opercular tumor. First, surgeons must be particularly cautious in cases with a potential contralateral lesion (e.g., history of head injury), even if such a lesion is not visible on magnetic resonance imaging scans; preoperative metabolic imaging and electrophysiological investigations should be considered before an operative decision is made. Second, surgeons must perform intraoperative functional mapping to identify and to attempt to preserve the corticosubcortical facial motor structures. A procedure performed while the patient is awake should be discussed to detect the structures involved in chewing and swallowing in cases of suspected bilateral lesions. Third, the patient must be informed of this particular risk before surgery is performed 7).


A 10-year-old boy was brain injured in a traffic accident in August 1996. He was found comatous (initial GCS = 6) without any focal neurological deficit. The hemodynamic situation was stable even though he presented two wounds of the scalp and a hemoperitoneum that required intensive perfusions. The initial CT scan elicited a frontal fracture, ischemo hemorrhagic lesions of the right frontopolar and anterior temporal cortex. On the second day, he developed on the left side a subdural collection and a extradural hematoma which was surgically withdrawn. The comatous state ended on the ninth day. On examination, The child was awake and alert, able to understand spoken and written language but unable to speak. There was masticatory diplegia: the mouth was half open, the patient was drooling, chewing was impossible. The most striking feature was the automatic voluntary dissociation which might be observed on laughing, crying and yawning. The patient was unable to initiate swallowing but reflex swallowing was preserved once food was placed into the pharynx. The child had a deficit of voluntary control of muscles supplied by nerves V, VI, IX, X, XI. These clinical features are the hallmarks of SFMC. The first case was reported in 1837 by Magnus. The syndrome was described by Foix Chavany et Marie in 1926, and called SFMC by Weller (1993). His literature review of 62 SFMC allowed the differentiation of five clinical types: the classical and most common form associated with cerebrovascular disease, a subacute form caused by central nervous system infections, a developmental form, a reversible form in children with epilepsy and a rare type associated with neurodegenerative disorders. Bilateral opercular lesions was confirmed in 31 of 41 patients who had CT or MRI performed, and by necropsy in 7 of 10 patients. As previously reported, the outcome was poor for this boy who recovered very limited orofacial motor abilities. The medical functional readaptation was long et tedious and took in consideration the fact that the speech disturbance was anarthria and not an aphasic or an apraxic one and the age of onset of this acute acquired syndrome 8).

References

1)

Digby R, Wells A, Menon D, Helmy A. Foix-Chavany-Marie syndrome secondary to bilateral traumatic operculum injury. Acta Neurochir (Wien). 2018 Oct 17. doi: 10.1007/s00701-018-3702-x. [Epub ahead of print] PubMed PMID: 30328523.
2)

Nitta N, Shiino A, Sakaue Y, Nozaki K. Foix-Chavany-Marie syndrome after unilateral anterior opercular contusion: a case report. Clin Neurol Neurosurg. 2013 Aug;115(8):1539-41. doi: 10.1016/j.clineuro.2012.12.036. Epub 2013 Jan 28. PubMed PMID: 23369402.
3)

Martino J, de Lucas EM, Ibáñez-Plágaro FJ, Valle-Folgueral JM, Vázquez-Barquero A. Foix-Chavany-Marie syndrome caused by a disconnection between the right pars opercularis of the inferior frontal gyrus and the supplementary motor area. J Neurosurg. 2012 Nov;117(5):844-50. doi: 10.3171/2012.7.JNS12404. Epub 2012 Sep 7. PubMed PMID: 22957529.
4)

Theys T, Van Cauter S, Kho KH, Vijverman AC, Peeters RR, Sunaert S, van Loon J. Neural correlates of recovery from Foix-Chavany-Marie syndrome. J Neurol. 2013 Feb;260(2):415-20. doi: 10.1007/s00415-012-6641-0. Epub 2012 Aug 15. PubMed PMID: 22893305.
5)

Campbell E, St George EJ, Livingston A, Littlechild P. Case report of transient acquired Foix-Chavany-Marie syndrome following sequential trauma. Br J Neurosurg. 2009 Dec;23(6):625-7. doi: 10.3109/02688690902818841. PubMed PMID: 19922277.
6)

Duffau H, Taillandier L, Gatignol P, Capelle L. The insular lobe and brain plasticity: Lessons from tumor surgery. Clin Neurol Neurosurg. 2006 Sep;108(6):543-8. Epub 2005 Oct 6. PubMed PMID: 16213653.
7)

Duffau H, Karachi C, Gatignol P, Capelle L. Transient Foix-Chavany-Marie syndrome after surgical resection of a right insulo-opercular low-grade glioma: case report. Neurosurgery. 2003 Aug;53(2):426-31; discussion 431. PubMed PMID: 12925262.
8)

Laurent-Vannier A, Fadda G, Laigle P, Dusser A, Leroy-Malherbe V. [Foix-Chavany-Marie syndrome in a child caused by a head trauma]. Rev Neurol (Paris). 1999 May;155(5):387-90. Review. French. PubMed PMID: 10427603.

Intrathecal morphine for Restless Legs Syndrome

Intrathecal morphine for Restless Legs Syndrome

For those who suffer from a medically refractory Restless Legs Syndrome (RLS), intrathecal morphine treatment has been shown to be effective. The aim of a retrospective study of Steensland et al. was to investigate efficacy, complications and side effects in patients treated over several years with an implantable pump. A comparison was done to a group of patients treated with a similar pump system due to spasticity.

The charts of ten patients with severe or very severe RLS have been reviewed. These patients have received an intrathecal drug delivery system during 2000 -2016. To compare the rate of complications, a control group of 20 patients treated with intrathecal baclofen due to spasticity was included in the study. Their time of treatment corresponded to the RLS patients’.

The severity of symptoms related to RLS decreased significantly after treatment. Doses required ranged from 68 to 140 µg/day. Two cases of side effects were detected; one case with nausea and dizziness and one case with headache and fatigue. The rate of mechanical-, infectious- and other complications were similar between the two groups.

In light of the decrease in symptom severity and the low rate of side effects, intrathecal morphine can be considered an adequate treatment for those suffering from medically refractory RLS. The occurrence of complications did not differ between subjects with RLS and spasticity 1).

Case reports

Three patients with medically refractory RLS received an implanted pump for delivery of intrathecal morphine. Severity of RLS and self-assessed health were rated using the International Restless Legs Syndrome Study Group (IRLSSG) rating scale and the Short Form health survey (SF-36). Assessments were made preoperatively and after 6 months of follow-up.

Preoperatively two patients had very severe RLS, scoring 35 and 36 on the IRLSSG rating scale, and one patient had severe RLS (score, 26). All three patients were free of symptoms of RLS post-operatively and also at the 6-month follow-up. The daily doses of intrathecal morphine ranged from 73 to 199 µg. Results from the SF-36 health survey showed that all three patients had a better physical health compared to before surgery.

Intrathecal morphine may be efficient in the treatment for medically refractory RLS. All three patients became completely free of symptoms, and there was also improvement in self-perceived overall health 2)


In 2012 case reports of 4 patients documented excellent results with short-term use of intrathecal opioids also in RLS 3).


In 2008 Ross et al. reported the successful use of low-dose intrathecal morphine in a severe case of restless legs syndrome refractory to medication.

The surgery was complicated by extreme restlessness in the recovery room resulting in withdrawal or breakage of the catheter on multiple occasions. Relief of symptoms was lost with each catheter malfunction. They describes the possible origin of this complication and a solution to the problem resulting in the successful control of symptoms for 7 months since the last surgery. 4).

They are, however, wrong in their statement that this is the third published case of this particular treatment. In an article in the Swedish medical journal Lakartidningen 5), Lindvall et al. previously accounted for 7 patients with refractory restless legs syndrome who were successfully treated with intrathecal morphine. An abstract in English is available through the official web site of this journal, and the article is indexed by PubMed. The 7 patients were treated at 3 hospitals in the northern region of Sweden, which is covered by the neurosurgical department of Umeå University Hospital 6).


In 2002 two patients with incapacitating symptoms from restless legs syndrome, not adequately responding to conventional treatment with dopaminergic drugs, were implanted with a pump device (Isomed) for intrathecal delivery of morphine and bupivacaine. The treatment resulted in total resolution of all symptoms with few side effects 7).

References

1)

Steensland I, Koskinen LD, Lindvall P. Treatment of Restless legs with a pump; efficacy and complications. Acta Neurol Scand. 2019 Dec 28. doi: 10.1111/ane.13213. [Epub ahead of print] PubMed PMID: 31883387.
2)

Lindvall P, Hariz GM, Blomstedt P. Overall self-perceived health in Restless legs treated with intrathecal morphine. Acta Neurol Scand. 2013 Apr;127(4):268-73. doi: 10.1111/j.1600-0404.2012.01707.x. Epub 2012 Aug 9. PubMed PMID: 22881705.
3)

Hornyak M, Kaube H. Long-Term treatment of a patient with severe restless legs syndrome using intrathecal morphine. Neurology. 2012 Dec 11;79(24):2361-2. doi: 10.1212/WNL.0b013e318278b5e7. Epub 2012 Nov 28. PubMed PMID: 23197746.
4)

Ross DA, Narus MS, Nutt JG. Control of medically refractory restless legs syndrome with intrathecal morphine: case report. Neurosurgery. 2008 Jan;62(1):E263; discussion E263. doi: 10.1227/01.NEU.0000311089.04014.91. PubMed PMID: 18300885.
5)

Lindvall PK, Ruuth K, Jakobsson B, Nilsson SK. [Intrathecal morphine infusion a possible treatment in restless legs]. Lakartidningen. 2007 Aug 8-21;104(32-33):2250-2. Swedish. PubMed PMID: 17822205.
6)

Lindvall P, Ruuth K, Jakobsson B, Nilsson S. Intrathecal morphine as a treatment for refractory restless legs syndrome. Neurosurgery. 2008 Dec;63(6):E1209; author reply E1209. doi: 10.1227/01.NEU.0000325674.02282.CC. PubMed PMID: 19057291.
7)

Jakobsson B, Ruuth K. Successful treatment of restless legs syndrome with an implanted pump for intrathecal drug delivery. Acta Anaesthesiol Scand. 2002 Jan;46(1):114-7. PubMed PMID: 11903084.

Klippel Feil syndrome

Klippel Feil syndrome

Klippel Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.

Congenital fusion of two or more cervical vertebrae. Ranges from the fusion of only the bodies (congenital block vertebrae) to fusion of the entire vertebrae (including posterior elements). Results from failure of normal segmentation of cervical somites between 3 and 8 weeks’ gestation. Involved vertebral bodies are often flattened, and associated disc spaces are absent or hypoplastic. Hemivertebrae may also occur. Neural foramina are smaller than normal and oval. Cervical stenosis is rare. The complete absence of the posterior elements with an enlarged foramen magnum and fixed hyperextension posture is called iniencephaly and is rare. The incidence of Klippel-Feil is unknown due to its rarity and the fact that it is frequently asymptomatic.

May occur in conjunction with other congenital cervical spine anomalies such as basilar impression and atlantooccipital fusion.

Classification

Samartzis classification

Type I Having a single congenitally fused cervical segment.

Type II Multiple noncontiguous, congenitally fused segments.

Type III Multiple contiguous, congenitally fused cervical segments 1)


Type I: mass fusion of C-spine to upper T-spine

Type II: fusion of only 1 or 2 interspaces

Clinical features

Classic clinical triad (all 3 are present in < 50%):

1. low posterior hairline

2. shortened neck (brevicollis)

3. limitation of neck motion (may not be evident if < 3 vertebrae are fused, if fusion is limited only to the lower cervical levels, or if hypermobility of nonfused segments compensates). Limitation of movement is more common in rotation than flexion-extension or lateral bending

Other clinical associations include scoliosis in 60%, facial asymmetry, torticollis, webbing of the neck (called pterygium colli when severe), Sprengel’s deformity in 25–35% (raised scapula due to failure of the scapula to properly descend from its region of formation high in the neck to its normal position about the same time as the Klippel-Feil lesion occurs), synkinesis (mirror motions, primarily of hands but occasionally arms also), and less commonly facial nerve palsy, ptosis, cleft or high arched palate. Systemic congenital abnormalities may also occur, including genitourinary (the most frequent being a unilateral absence of a kidney), cardiopulmonary, CNS, and deafness in ≈ 30% (due to defective development of the osseous inner ear).

No neurologic symptoms have ever been directly attributed to the fused vertebrae, however, symptoms may occur from nonfused segments (less common in short-segment fusions) which may be hypermobile, possibly leading to instability or degenerative arthritic changes.


The syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Klippel–Feil syndrome can be identified by shortness of the neck. Those with the syndrome have a very low hairline and the ability of the neck to move is limited.

Treatment

Usually directed at detecting and managing the associated systemic anomalies. Patients should have a cardiac evaluation (EKG), CXR, and renal ultrasound. Serial examinations with lateral flexion-extension C-spine X-rays to monitor for instability. Occasionally, a judicious fusion of an unstable non-fused segment may be needed at the risk of further loss of mobility.


In patients with KFS with basilar invagination (BI), compression of the brainstem and upper cervical cord results in neurological deficits, and decompression and occipitocervical reconstruction are required. The highly varied anatomy of KFS makes a posterior occipitocervical fixation strategy challenging. For these patients, the transoral atlantoaxial reduction plate (TARP) operation is an optimal option to perform a direct anterior fixation to achieve stabilization 2).


Contraindications for participation in contact sports except associated with full ROM without occipitocervical anomalies, instability, disc disease absolute or degenerative changes.

Outcome

In the series Patel et al. the patients who pursued surgical treatment reported significantly more comorbidities (p = 0.02) and neurological symptoms (p = 0.01) than nonsurgically treated participants and were significantly older when pain worsened (p = 0.03), but there was no difference in levels of muscle, joint, or nerve pain (p = 0.32); headache/migraine pain (p = 0.35); total number of cervical fusions (p = 0.77); location of fusions; or age at pain onset (p = 0.16).

More than 90% of participants experienced pain. Participants with an increased number of overall cervical fusions or multilevel, contiguous fusions reported greater levels of muscle, joint, and nerve pain. Participants who pursued surgery had more comorbidities and neurological symptoms, such as balance and gait disturbances, but did not report more significant pain than nonsurgically treated participants 3).

Case series

Seventy-five patients (60 female, 14 male, and 1 unknown) were identified and classified as having the following types of Samartzis fusion: type I, n = 21 (28%); type II, n = 15 (20%); type III, n = 39 (52%). Seventy participants (93.3%) experienced pain associated with their KFS. The median age of patients at pain onset was 16.0 years (IQR 6.75-24.0 years), and the median age when pain worsened was 28.0 years (IQR 15.25-41.5 years). Muscle, joint, and nerve pain was primarily located in the shoulders/upper back (76%), neck (72%), and back of head (50.7%) and was characterized as tightness (73%), dull/aching (67%), and tingling/pins and needles (49%). Type III fusions were significantly associated with greater nerve pain (p = 0.02), headache/migraine pain (p = 0.02), and joint pain (p = 0.03) compared to other types of fusion. Patients with cervical fusions in the middle region (C2-6) tended to report greater muscle, joint, and nerve pain (p = 0.06). Participants rated the effectiveness of oral over-the-counter medications as 3 of 5 (IQR 1-3), oral prescribed medications as 3 of 5 (IQR 2-4), injections as 2 of 5 (IQR 1-4), and surgery as 3 of 5 (IQR 1-4), with 0 indicating the least pain relief and 5 the most pain relief. Participants who pursued surgical treatment reported significantly more comorbidities (p = 0.02) and neurological symptoms (p = 0.01) than nonsurgically treated participants and were significantly older when pain worsened (p = 0.03), but there was no difference in levels of muscle, joint, or nerve pain (p = 0.32); headache/migraine pain (p = 0.35); total number of cervical fusions (p = 0.77); location of fusions; or age at pain onset (p = 0.16).

More than 90% of participants experienced pain. Participants with an increased number of overall cervical fusions or multilevel, contiguous fusions reported greater levels of muscle, joint, and nerve pain. Participants who pursued surgery had more comorbidities and neurological symptoms, such as balance and gait disturbances, but did not report more significant pain than nonsurgically treated participants 4).

References

1)

Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006 Oct 1;31(21):E798-804. PubMed PMID: 17023841.
2)

Wei G, Wang Z, Ai F, Yin Q, Wu Z, Ma XY, Xu J, Shi C, Xia H. Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate. Neurosurgery. 2016 Apr;78(4):492-8. doi: 10.1227/NEU.0000000000001094. PubMed PMID: 26990409.
3) , 4)

Patel K, Evans H, Sommaruga S, Vayssiere P, Qureshi T, Kolb L, Fehlings MG, Cheng JS, Tessitore E, Schaller K, Nouri A. Characteristics and management of pain in patients with Klippel-Feil syndrome: analysis of a global patient-reported registry. J Neurosurg Spine. 2019 Dec 13:1-6. doi: 10.3171/2019.9.SPINE19820. [Epub ahead of print] PubMed PMID: 31835254.
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