Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome

Classic Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterized by laxity. The skin, as one of the organs involved, shows hyperextensibility, which makes it prone to trauma. In this context, it would seem logical for cutaneous synovial metaplasia, which is considered a form of repair, to be commonly found in cases of EDS. However, there are only two previously published cases of synovial metaplasia in EDS. We present a third case in a 56-year-old woman with painful redundant skin in both elbows and knees for whom a skin fold of the left elbow was removed to relieve her symptoms. The biopsy showed preservation of the elastic and collagen fibers. The main alteration was the evidence of dermal cystic spaces lined by fibrinoid rests with focal pseudopapillary projections. However, in some zones the cellular lining was preserved, and it was composed of vimentin-positive, fibroblast-like flat, elongated cells, as well as CD68-positive macrophages. No birefringent particles were found in an examination under polarized light.     

Conservative management of recurrent enterogenous cysts of the cervical spine: A case report

Enterogenous cysts are rare benign congenital tumours of the central nervous system. The aim of management is complete resection to minimise the chance of recurrence. To date, management of recurrence has favoured further surgical resection. We describe the case of a recurrent enterogenous cyst of the cervical spine, initially treated with decompression via laminectomy and fenestration. Magnetic Resonance Imaging (MRI) follow up has demonstrated spontaneous recurrence and deflation of the cyst on multiple occasions. We propose that conservative management of recurrent enterogenous cysts may be a valid management option following fenestration or partial resection of the cyst, and that recurrence may not always warrant further surgical intervention.     

Differentiation of ulnar neuropathy at the wrist due to ganglion cyst from ulnar neuropathy at the elbow

ObjectiveHere, we aimed to describe the clinical, electrodiagnostic (EDx) and ultrasonographic (US) findings in a series of patients with ulnar neuropathy at the wrist (UNW) due to compression by a ganglion cyst. We also sought features that differentiate UNW from ulnar neuropathy at the elbow (UNE).MethodsWe reviewed electronic medical records of consecutive patients with UNW caused by ganglion cysts. We compared their clinical, EDx and US findings to findings in our previously reported prospective series of UNE patients.ResultsWe identified 10 patients with UNW caused by ganglion cyst compression, who all presented with intrinsic hand muscle weakness and atrophy. Compared to 175 UNE patients they less often complained of paresthesia (60% vs. 98%) and presented less sensory loss in the palm (30% vs. 96%) and little finger (50% vs. 95%). They more often had distal ulnar motor latency recorded from the abductor digiti minimi (ADM) > 3.6 ms (80% vs. 30%), and denervation activity on needle EMG in the first dorsal interosseous (FDI) compared to ADM (100% vs. 60%). Only 20% of our UNW patients had ulnar nerve swelling at the site of compression on US.ConclusionUNW potentially caused by ganglion cyst should be suspected in patients presenting with intrinsic hand muscle atrophy and weakness, particularly in cases with normal sensation, increased distal ulnar motor latency recorded from ADM and more severe neuropathic changes in FDI compared to ADM muscle.     

Intrathecal nusinersen treatment after ventriculo-peritoneal shunt placement: A case report focusing on the neurofilament light chain in cerebrospinal fluid

BackgroundIn July 2018, a rare and serious adverse effect (AE), namely, communicating hydrocephalus unrelated to meningitis or bleeding, was reported in relation to five patients treated with nusinersen for spinal muscular atrophy (SMA). Some patients were managed using a ventriculo-peritoneal shunt (VPS) implant and continued to receive nusinersen treatment. However, there is limited information concerning the effectiveness and safety of nusinersen treatment for patients with a VPS.Case reportA female patient exhibited general hypotonia soon after birth and was diagnosed, using genetic analysis, with spinal muscular atrophy. She required permanent invasive ventilation from 2 months of age. She developed a progressive hydrocephalus and underwent placement of a VPS in infancy. Treatment with nusinersen was initiated when she was 7 years old. The neurofilament light-chain (NfL) concentration in the cerebrospinal fluid (CSF) decreased over time with nusinersen treatment. Twelve months have passed since the start of nusinersen treatment and no AEs have been observed.ConclusionNusinersen treatment may be effective and safe, even after placement of a VPS. NfL levels in the CSF could be valuable markers of disease activity/treatment response even in advanced stages of SMA.     

Inchoate guidelines of endoscopic resection of colloid cysts

Colloid cyst are cystic lesions in the third ventricle and could render patients asymptomatic. However, there is an inherent risk of symptomatic progression, acute decompensation, and sudden death. Therefore, there is no clear consensus as how to observe or when to treat a newly diagnosed patient with a colloid cyst. The authors’ objective is to identify the risk factors and then develop a risk stratification score to guide neurosurgeons during acute or chronic presentation. Radiological imaging characteristics have been outlined for the risk stratification as well preoperative evaluation. A baseline neuropsychological evaluation is helpful to obtain during an incidental presentation because history and neurological examination could be inconclusive in these cases. Radiological imaging with an MRI brain scan plays a vital role for the initial screening (determination of the cyst size, exact location, and the imaging characteristics) as well as for the preoperative planning. Stereotactic guidance is a high yield, followed by neuroendoscopic resection of the colloid cyst has been an established approach to resect these lesions. Modified colloid cyst risk scoring (mCCRS) system is robust and detailed for the optimal risk stratification of colloid cyst presentation. Stereotactic guided neuroendoscopic resection of the colloid cyst is a safe and efficacious approach to manage these lesions. The intended use, crucial steps involved, and the limitations of the technique have been discussed especially with a focus on the recurrence. Moreover, a comprehensive treatment algorithm has been presented.     

Combined laparoscopic and perineal approach for the management of recurrent tailgut cyst

Tailgut cyst is an uncommon developmental anomaly arising from the embryonic hindgut in the retrorectal space. The patient frequently is asymptomatic or has vague perineal complaints that pose a diagnostic dilemma. Moreover, the patient is often misdiagnosed and therefore mismanaged. MRI is the investigation of choice for diagnosis. After the diagnosis is established, complete surgical excision is required to alleviate patient discomfort and to prevent complications such as infection, malignant transformation, and recurrence. Proper clinical examination and imaging not only establish the accurate diagnosis but also help in determining the best surgical approach for the patient (anterior abdominal, posterior sacral perineal, or combined approach). We hereby report a case of recurrent tailgut cyst managed with a combined anterior laparoscopic and perineal approach.     

Cavum velum interpositum cysts in normal and anomalous fetuses in second trimester of pregnancy: Comparison of its size and prevalence

ObjectiveCavum veli interpositi (CVI) is a potential space below the splenium of corpus callosum and sometimes presents as a cyst.Materials and methodsIn this prospective cross-sectional study, 360 fetuses with normal second trimester scan and 152 s trimester fetuses with structural abnormalities were included.ResultsThe CVI cysts were more common in fetuses with brain anomaly compared to normal fetuses and fetuses with extra-central nervous system (CNS) anomalies (23% vs 18.3% and 18% respectively; p value < 0.01). The mean size of cysts in normal fetuses, fetuses with extra-CNS anomalies and fetuses with brain abnormalities was 4.6 mm, 5.8 mm and 9.2 mm respectively. There was a significant difference between cysts size in normal fetuses and fetuses with brain anomalies (p value < 0.01) and the cut-point was 7.1 mm.ConclusionThe prevalence of CVI cysts is more in fetuses with brain anomaly. Fetuses with a cyst size >7.1 mm need a more detailed brain examination.     

Premature ovarian insufficiency and autoimmune diseases

Premature ovarian insufficiency (POI) is a clinical syndrome defined by loss of ovarian activity before the age of 40 years and has a potentially devastating effect upon women's health, both physically and psychologically. An underlying autoimmune disease has been identified in approximately 20% of patients with POI, the most common of which are disorders of the thyroid and adrenal glands. Nevertheless, in the majority of cases, the etiology is unknown. The damage mechanism to the ovary is usually caused by antibodies, and autoimmune POI is usually characterized by cellular infiltration of the theca cells of growing follicles by various inflammatory cells. Yet, other various factors and proteins of unknown clinical significance are present.The major diagnostic tool for otherwise idiopathic POI is the presence of autoantibodies against various ovarian components that strongly support the option of autoimmune etiology of POI.Treatment of the underlying cause of POI is the main strategy, although immunosuppressive therapy should be considered in a selected population of well-defined autoimmune POI and, as in idiopathic POI, in whom the resumption of ovarian activity is possible.     

Influence of early-life factors on the development of endometriosis

Objective: Our aim was to study the association between early-life factors and the development of endometriosis.

Methods: This case–control study included 440 women with surgically confirmed endometriosis (cases) and 880 women without endometriosis (controls). Information on early-life factors was ascertained retrospectively by in-person interviews with participants and their mothers. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the associations between endometriosis and maternal and paternal characteristics and foetal and infant exposures were estimated using unconditional logistic regression, adjusting for frequency matching and confounding variables.

Results: We observed that women who were not breastfed as infants had twice the risk of endometriosis compared with women who were breastfed (adjusted OR 2.0; 95% CI 1.6, 4.5). Our data suggested an increased endometriosis risk with neonatal vaginal bleeding (adjusted OR 1.9; 95% CI 1.2, 4.3) and paternal smoking (adjusted OR 1.8; 95% CI 1.1, 4.9). Although the CIs included the null hypothesis value, caesarean section (adjusted OR 1.7; 95% CI 1.0, 3.5) and prematurity (adjusted OR 1.4; 95% CI 0.8, 3.7) were probably associated with the incidence of endometriosis.

Conclusions: Some early-life factors including breastfeeding, neonatal vaginal bleeding and paternal smoking were associated with subsequent, surgically confirmed endometriosis in this cohort of Chinese women.