Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.

Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children, but mild forms can also be present in adults and are difficult to detect. We present the case of a 50-year-old woman referred for pain management, with a previous diagnosis of fibromyalgia. The association of clinical features (diffuse pain syndrome, early dental loosening, personal history of two fractures with osteoporosis, and family history of osteoporosis) with radiographic (heterotopic calcifications of the yellow and interspinous lumbar ligaments) and biological (low levels of total alkaline phosphatase) indices was suggestive of hypophosphatasia, which was confirmed by genetic analysis. We review and discuss the association between hypophosphatasia, musculoskeletal pain, and calcium pyrophosphate deposition and the importance of raising the diagnosis of adult-onset hypophosphatasia when facing these two rheumatologic entities.

The dural vascular plexus in subdural hematoma: Illustration through a case of dural arteriovenous fistula.

Background: The initiation of chronic subdural hematoma (cSDH) is traditionally explained by rupture of bridging veins. Recent descriptions of the embryology and anatomy of the meninges and their vascularization, however, point to the dural vascular plexus (DVP) as a plausible origin of cSDH. This dural plexus is supplied by meningeal arteries. Their endovascular occlusion is efficient in cSDH treatment. Dural arteriovenous fistulae (dAVF) may also present with subdural hematoma. Case Description: A 65-year-old female patient presented with parietal parasagittal dAVF and bilateral cSDH requiring surgical disconnection followed by complete clinical and imaging resolution of dAVF and cSDH. Conclusion: In common cSDH, pressure in the DVP may be normal and subdural bleeding may occur due to mechanical traction on the DVP. In the setting of dAVF, it may be the increase in pressure due to the fistula, within the DVP, that causes subdural hematoma. The DVP, supplied by meningeal arteries, thus not only allows for convergent pathophysiological explanation of subdural bleeding in both cSDH and dAVF but may also be the actual target of the emergent endovascular treatment of cSDH trough meningeal artery embolization.

Surgical or Endovascular Management of Middle Cerebral Artery Aneurysms: A Randomized Comparison.

OBJECTIVE: There are few randomized data comparing clipping and coiling for middle cerebral artery (MCA) aneurysms. We analyzed results from patients with MCA aneurysms enrolled in the CURES (Collaborative UnRuptured Endovascular vs. Surgery) and ISAT-2 (International Subarachnoid Aneurysm Trial II) randomized trials. METHODS: Both trials are investigator-led parallel-group 1:1 randomized studies. CURES includes patients with 3-mm to 25-mm unruptured intracranial aneurysms (UIAs), and ISAT-2 includes patients with ruptured aneurysms (RA) for whom uncertainty remains after ISAT. The primary outcome measure of CURES is treatment failure: 1) failure to treat the aneurysm, 2) intracranial hemorrhage during follow-up, or 3) residual aneurysm at 1 year. The primary outcome of ISAT-2 is death or dependency (modified Rankin Scale score >2) at 1 year. One-year angiographic outcomes are systematically recorded. RESULTS: There were 100 unruptured and 71 ruptured MCA aneurysms. In CURES, 90 patients with UIA have been treated and 10 await treatment. Surgical and endovascular management of unruptured MCA aneurysms led to treatment failure in 3/42 (7%; 95% confidence interval [CI], 0.02-0.19) for clipping and 13/48 (27%; 95% CI, 0.17-0.41) for coiling (P = 0.025). All 71 patients with RA have been treated. In ISAT-2, patients with ruptured MCA aneurysms managed surgically had died or were dependent (modified Rankin Scale score >2) in 7/38 (18%; 95% CI, 0.09-0.33) cases, and 8/33 (24%; 95% CI, 0.13-0.41) for endovascular. One-year imaging results were available in 80 patients with UIA and 62 with RA. Complete aneurysm occlusion was found in 30/40 (75%; 95% CI, 0.60-0.86) patients with UIA allocated clipping, and 14/40 (35%; 95% CI, 0.22-0.50) patients with UIA allocated coiling. Complete aneurysm occlusion was found in 24/34 (71%; 95% CI, 0.54-0.83) patients with RA allocated clipping, and 15/28 (54%; 95% CI, 0.36-0.70) patients with RA allocated coiling. CONCLUSIONS: Randomized data from 2 trials show that better efficacy may be obtained with surgical management of patients with MCA aneurysms.

Pseudomalignant Myositis Ossificans of the Neck in a Child: Case Report and Review of the Literature.

BACKGROUND: Myositis ossificans is a benign process of heterotopic bone formation developing in soft tissues that can mimic malignancy. Differential diagnosis can be difficult without a biopsy when it originates in atypical locations. CASE DESCRIPTION: A 5½-year-old boy was admitted for a cervical tumor causing torticollis. The nodular tumor developed at the lateral border of the right C3-4 foramen, had calcification/ossification at its periphery, and was accompanied by a huge edematous reaction of the scalene muscles. The patient underwent an extensive work-up by pediatric oncologists. A biopsy was requested because of high suspicion of malignancy. At surgery, the lesion was benign on frozen sections and was completely resected, allowing the diagnosis of myositis ossificans. The patient made a rapid and complete recovery. CONCLUSIONS: Myositis ossificans circumscripta is rare in children, especially in the neck region. The diagnostic challenge is to differentiate it from bone and soft tissue malignancies. Appropriate management, including surgery if needed, leads to an excellent outcome. Another concern is to exclude fibrodysplasia ossificans progressiva when atraumatic myositis ossificans develops in a young child in the neck or shoulder region.

Reversible tonsillar prolapse and syringomyelia after embolization of a tectal arteriovenous malformation. Case report and review of the literature.

The authors report the case of a 21-year-old woman who presented with headaches, frequent sensations of loss of equilibrium, and intermittent strabismus. A tectal arteriovenous malformation (AVM) was diagnosed based on magnetic resonance (MR) imaging findings. The AVM drained toward the straight sinus and was associated with a tonsillar prolapse (Chiari malformation Type I [CM-I]) and cervical syringomyelia. The tectal AVM was embolized with N-butyl cyanoacrylate, and disconnection of about 80% of the lesion was obtained. All clinical symptoms resolved after embolization, and radiosurgery was proposed to treat the malformation remnant. A control MR image confirmed the regression of the tonsillar prolapse and the disappearance of the syrinx. This report emphasizes that CM-I and syringomyelia may be acquired and related to hydrovenous disorders.

Head trauma and distal anterior cerebral artery aneurysm: potential role of an adhesion to the falx.

Proximity of the distal anterior cerebral artery (dACA) and the edge of the falx has been hypothetically implicated in the pathogenesis of traumatic dACA aneurysms. A 57-year-old patient presented with posttraumatic intracranial hemorrhage and an A3-bifurcation aneurysm that increased in size over the following 2 weeks. Because of higher endovascular risk, surgical clipping was preferred. Surgery revealed a fibrous adhesion between the falx and the dACA at the aneurysm site. This adhesion could provide an anatomical reason for the formation of a traumatic dACA aneurysm at the edge of the falx or rupture of a preexisting aneurysm.

Paraspinal Arterio-Venous Fistula in Children: Two More Cases of an Exceptional Malformation.

We report on the case of two toddlers who presented in the last 2 years with heart and vascular murmur, respectively, and in whom the diagnosis of paraspinal arterio-venous fistula was made. Paraspinal arterio-venous fistulae in children are extremely rare congenital or post-traumatic vascular malformations. In the rare case of connection with the spinal venous system, they might affect spinal vascularization due to potential venous congestion. Interventional embolization rather than surgery is the treatment of choice for such lesions. Up to now, there is no consensus about the indication of prophylactic closure of asymptomatic fistulae. However, close clinical follow-up with repeated spinal magnetic resonance imaging to exclude venous congestion is mandatory for young asymptomatic patients until treatment.