A case of bilateral temporal muscle myositis accompanied by rare facial cleft

Abstract The pons is the most frequent local for brain stem cavernoma.1 Repeated hemorrhage of brainstem cavernoma is associated with significant and accumulative neurological deficits and thus requires treatment. According to the Swedish Karolinska’s group of radiosurgery, ”it could not be concluded whether GKRS affects the natural course of a CM. The incidence of radiation-induced complications was approximately seven times higher than that expected.”2 Thus, microsurgical removal has become the mainstay of treatment. In our experience, the following details assist in obtaining favorable outcomes and avoiding postoperative complications3,4: (a) the entry into the cavernoma based on thorough knowledge of the microanatomy; (b) the detailed study of the images and the presentation of the cavernoma on or near the brain stem surface; (c) the resection of the live cavernous hemangioma and not the mere removal of the multiple aged organized hematomas; (d) the preservation of the associated venous angioma; (e) the direct and shortest access to the lesion provided by a skull base approach; and (f) the use of the available technology, such as intraoperative neuromonitoring and neuroimaging. We present the case of a 54-yr-old male with recent deterioration in year 2001, past repetitive episodes of gait imbalance, and speech difficulty over a 7-yr period from known pontine cavernoma. The anterior petrosal approach provided superb and direct exposure to the entry at the lateral pons and the cavernoma was totally removed with preservation of the venous angioma. His preoperative neurological deficit rapidly recovered. Patient consented to the procedure and photography. Images at 3:15 from Kadri et al, The anatomical basis for surgical presercation of temporal muscle. J Neurosurg. 2004;100:517-522, used with permission from JNSPG. Image at 3:27 from Al-Mefty O, Operative Atlas of Meningiomas, © LWW, 1997, with permission.

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High concurrent validity between digital and analogue algometers to measure pressure pain thresholds in healthy participants and people with migraine: a cross-sectional study

The Journal of Headache and Pain ◽

10.1186/s10194-021-01278-8 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

René F. Castien ◽

Michel W. Coppieters ◽

Tom S. C. Durge ◽

Gwendolyne G. M. Scholten-Peeters

Keyword(s):

Concurrent Validity ◽

Tibialis Anterior Muscle ◽

Intraclass Correlation ◽

Cephalic Region ◽

Limits Of Agreement ◽

Temporal Muscle ◽

Pain Thresholds ◽

Pressure Pain ◽

Pressure Pain Thresholds ◽

Healthy Participants

Abstract Background Pressure pain thresholds (PPTs) are commonly assessed to quantify mechanical sensitivity in various conditions, including migraine. Digital and analogue algometers are used, but the concurrent validity between these algometers is unknown. Therefore, we assessed the concurrent validity between a digital and analogue algometer to determine PPTs in healthy participants and people with migraine. Methods Twenty-six healthy participants and twenty-nine people with migraine participated in the study. PPTs were measured interictally and bilaterally at the cephalic region (temporal muscle, C1 paraspinal muscles, and trapezius muscle) and extra-cephalic region (extensor carpi radialis muscle and tibialis anterior muscle). PPTs were first determined with a digital algometer, followed by an analogue algometer. Intraclass correlation coefficients (ICC3.1) and limits of agreement were calculated to quantify concurrent validity. Results The concurrent validity between algometers in both groups was moderate to excellent (ICC3.1 ranged from 0.82 to 0.99, with 95%CI: 0.65 to 0.99). Although PPTs measured with the analogue algometer were higher at most locations in both groups (p < 0.05), the mean differences between both devices were less than 18.3 kPa. The variation in methods, such as a hand-held switch (digital algometer) versus verbal commands (analogue algometer) to indicate when the threshold was reached, may explain these differences in scores. The limits of agreement varied per location and between healthy participants and people with migraine. Conclusion The concurrent validity between the digital and analogue algometer is excellent in healthy participants and moderate in people with migraine. Both types of algometer are well-suited for research and clinical practice but are not exchangeable within a study or patient follow-up.

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Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

BMC Pediatrics ◽

10.1186/s12887-021-02506-5 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Shuchen Gu ◽

Yimin Khoong ◽

Xin Huang ◽

Tao Zan

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Clinical Manifestations ◽

Sporadic Case ◽

Facial Cleft ◽

Ocular Manifestations ◽

First Case ◽

Whole Exome ◽

Chinese Girl ◽

Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

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Complications Following Decompressive Craniectomy

Journal of Neurological Surgery Part A Central European Neurosurgery ◽

10.1055/s-0040-1721001 ◽

2021 ◽

Author(s):

Jan Mraček ◽

Jan Mork ◽

Jiri Dostal ◽

Radek Tupy ◽

Jolana Mrackova ◽

...

Keyword(s):

Risk Factors ◽

Decompressive Craniectomy ◽

Clinical Status ◽

Fluid Collection ◽

Epileptic Seizures ◽

Middle Cerebral Artery Infarction ◽

Temporal Muscle ◽

Life Saving ◽

Potential Risk Factors ◽

The Impact

Abstract Background Decompressive craniectomy (DC) has become the definitive surgical procedure to manage a medically intractable rise in intracranial pressure. DC is a life-saving procedure resulting in lower mortality but also higher rates of severe disability. Although technically straightforward, DC is accompanied by many complications. It has been reported that complications are associated with worse outcome. We reviewed a series of patients who underwent DC at our department to establish the incidence and types of complications. Methods We retrospectively evaluated the incidence of complications after DC performed in 135 patients during the time period from January 2013 to December 2018. Postoperative complications were evaluated using clinical status and CT during 6 months of follow-up. In addition, the impact of potential risk factors on the incidence of complications and the impact of complications on outcome were assessed. Results DC was performed in 135 patients, 93 of these for trauma, 22 for subarachnoid hemorrhage, 13 for malignant middle cerebral artery infarction, and 7 for intracerebral hemorrhage. Primary DC was performed in 120 patients and secondary DC in 15 patients. At least 1 complication occurred in each of 100 patients (74%), of which 22 patients (22%) were treated surgically. The following complications were found: edema or hematoma of the temporal muscle (34 times), extracerebral hematoma (33 times), extra-axial fluid collection (31 times), hemorrhagic progression of contusions (19 times), hydrocephalus (12 times), intraoperative malignant brain edema (10 times), temporal muscle atrophy (7 times), significant intraoperative blood loss (6 times), epileptic seizures (5 times), and skin necrosis (4 times). Trauma (p = 0.0006), coagulopathy (p = 0.0099), and primary DC (p = 0.0252) were identified as risk factors for complications. There was no significant impact of complications on outcome. Conclusions The incidence of complications following DC is high. However, we did not confirm a significant impact of complications on outcome. We emphasize that some phenomena are so frequent that they can be considered a consequence of primary injury or natural sequelae of the DC rather than its direct complication.

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