Search

International audience; Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between them. We report on the cases of two patients treated with 1 mg/kg/day of asfotase alfa who developed spinal cord compression from spinal ossifications during treatment. The first patient, 50 years old, presented after 2 years of treatment with quadraparesis secondary to an increase in ossifications of the cervical vertebral ligaments. The neurological damage was resolved after laminectomy, and the patient was then treated for 18 months with doses of 80 mg per week, without recurrence of the bone and muscle signs. The second patient, 26 years old, 78 kg, developed pain and cervical stiffness with pyramidal tract irritation secondary to ossifications of the vertebral ligaments. This improved with a reduction of doses to 80 mg/week, which then, after 6 months of follow-up, enabled maintained improvement of the bone and muscle pain that was initially obtained. To our knowledge, these are the first reported cases of increased spinal ligamentous ossifications with neurological complications. Biological monitoring in adults does not seem to enable asfotase alfa doses to be adjusted. The levels of serum alkaline phosphatase (ALP) while on the recommended treatment of 1 mg/kg/day are significantly supraphysiological (5000 to 20,000 IU) and the assays of pyrophosphate and pyridoxal phosphate are not correlated with clinical efficacy. In both of our patients, the treatment with 80 mg of asfotase alfa per week, which was proposed after the occurrence of spinal complications, seemed as effective, after a follow-up of 18 months and 6 months, as the initial treatment for improving the bone and muscle signs, and could be provided as “attack” doses after healing of the pseudoarthroses.

Thrombocytopenia (defined by platelet count

History A 28-year-old woman presented to the emergency department with painful swelling of the third finger on her right hand, which developed quickly. She had no relevant medical or surgical history. Her pain was worse at night, with stiffness decreasing during the morning. Clinical examination revealed generalized swelling of the third finger, cyanotic skin, and fingernail splitting on the second finger of the left hand ( Fig 1 ). Laboratory test results were normal, with no evidence of inflammatory disease. Radiographs of both hands were obtained ( Fig 2 ). CT scanning ( Fig 3 ) and MRI ( Fig 4 ) were also performed. [Figure: see text] [Figure: see text] [Figure: see text] [Figure: see text] [Figure: see text] [Figure: see text] [Figure: see text] [Figure: see text].

AIMS: The pathogenesis of intraneural ganglion cysts is controversial. Recent reports in the literature described medial plantar intraneural ganglion cysts (mIGC) with articular branches to subtalar joints. The aim of the current study was to provide further support for the principles underlying the articular theory, and to explain the successes and failures of treatment of mICGs. PATIENTS AND METHODS: Between 2006 and 2017, five patients with five mICGs were retrospectively reviewed. There were five men with a mean age of 50.2 years (33 to 68) and a mean follow-up of 3.8 years (0.8 to 6). Case history, physical examination, imaging, and intraoperative findings were reviewed. The outcomes of interest were ultrasound and/or MRI features of mICG, as well as the clinical outcomes. RESULTS: The five intraneural cysts followed the principles of the unifying articular theory. Connection to the posterior subtalar joint (pSTJ) was identified or suspected in four patients. Re-evaluation of preoperative MRI demonstrated a degenerative pSTJ and denervation changes in the abductor hallucis in all patients. Cyst excision with resection of the articular branch (four), cyst incision and drainage (one), and percutaneous aspiration/steroid injection (two) were performed. Removing the connection to the pSTJ prevented recurrence of mIGC, whereas medial plantar nerves remained cystic and symptomatic when resection of the communicating articular branch was not performed. CONCLUSION: Our findings support a standardized treatment algorithm for mIGC in the presence of degenerative disease at the pSTJ. By understanding the pathoanatomic mechanism for every cyst, we can improve treatment that must address the articular branch to avoid the recurrence of intraneural ganglion cysts, as well as the degenerative pSTJ to avoid extraneural cyst formation or recurrence.

Anatomical variations in the suprascapular nerve (SSN) and its depth in the suprascapular notch can make it difficult to target with ultrasonography (US). One alternative could be a proximal approach to the SSN, if US provides a reliable description of its origin (orSSN). The primary objective of this study was to demonstrate that US can reliably locate the orSSN. The secondary objective was to describe the features of the proximal SSN. Seventy brachial plexuses (BPs) from 30 healthy volunteers (60 BPs) and 5 cadavers (10 BPs) were included. There were two parts to this study: (1) description of the proximal SSN in healthy volunteers using US to determine the diameter, depth and location of the orSSN; (2) targeting of the orSSN with US in cadaver limbs to determine its distance from the needle, ink marking and locating the orSSN. In Part I, the diameter of the orSSN averaged 1.33 mm (1-9 mm) and its depth averaged 5.12 mm (2.7-10.6 mm). The orSSN was located in the upper trunk of the BP (53) or its posterior division (7). In Part II, the orSSN was successfully targeted in nine of the 10 specimens by US; the needle/orSSN distance averaged 3.8 mm (0-8 mm). The implanted needle was at the orSSN in two cases, proximal to it in seven and distal to it in one. US is a valid modality for describing and pinpointing the orSSN, irrespective of patient morphology.

OBJECTIVES: Investigate the feasibility and evaluate the accuracy of non-contrast-enhanced MR angiography (NC-MRA) using time-spin labelling inversion pulse (time-SLIP)to identify crossing renal vessels (CRVs) in children requiring surgical treatment of ureteropelvic junction (UPJ) obstructionand compare to laparoscopic findings. MATERIALS AND METHODS: Nineteen children ranging from 6 to 16 years of age underwent NC-MRA using the time-SLIP technique before surgery. Two independent readers analysed the MRA images. Number of renal arteries and presence or absence of CRVs were identified and compared with surgicalfindings. Image quality was assessed, as well as the presence of CRVs and measurement of renal pelvis diameter. Intra and inter-reader agreement was calculated using Cohen's kappa coefficient and Bland-Altman plots. RESULTS: The overall image quality was fair or good in 88% of cases. NC-MRA demonstrated CRVs at the level of the obstruction in 10 children and no CRV in 9 children. All were confirmed intra-operatively except in one of the nine children. Sensitivity, specificity, NPV, PPV for predicting CRVs were 92%, 100%, 100% and 87.5%, respectively, for both readers. CONCLUSION: NC-MRA is a good alternative to contrast-enhanced MRA and CT scanning for identifying CRVs in children with symptomatic UPJ. KEY POINTS: • Time-SLIP technique offers acceptable imaging quality for identifying crossing renal vessel. • Time-SLIP technique is easy to apply to the renal MRA examination. • Time-SLIP technique is an alternative to contrast-enhanced MRA and CT scanning.