Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks

OBJECTIVEThe aim of this study was to evaluate the electro-clinical features, etiology, treatment, and postsurgical seizure outcomes in patients with intractable epileptic spasms (ESs).METHODSThe authors retrospectively studied the medical records of all patients who had presented with medically intractable ESs and had undergone surgery in the period between October 2009 and August 2015. The interictal electroencephalography (EEG) pattern, MRI studies, magnetoencephalography findings, and postsurgical seizure outcomes were compared.RESULTSTwenty-six patients, 12 boys and 14 girls (age range 3–22 years), were eligible for study inclusion. Of these 26 patients, 84.6% (22) presented with multiple seizure types including partial seizures (PSs) independent of the ESs (30.8%); ESs followed by tonic seizures (30.8%); myoclonic seizures (19.2%); tonic seizures (19.2%); ESs followed by PSs (19.2%); focal seizures with secondary generalization (15.4%); atypical absence (11.5%); PSs followed by ESs (7.7%); and myoclonic followed by tonic seizures (7.7%). Seventeen patients underwent multilobar resection and 9 underwent unilobar resection. At the last follow-up (mean 36.6 months), 42.3% of patients were seizure free (outcome classification [OC] 1), 23.1% had > 50% reduction in seizure frequency (OC2–OC4), and 34.6% had < 50% reduction in seizure frequency or no improvement (OC5 and OC6). Predictors of favorable outcomes included an interictal focal EEG pattern and concordance between interictal EEG and MRI-demonstrated lesions (p = 0.001 and 0.004, respectively).CONCLUSIONSA favorable surgical outcome is achievable in a highly select group of patients with ESs secondary to structural lesions. Interictal EEG can help in identifying patients with the potential for favorable resective outcomes.

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Hydrocephalus presenting as idiopathic aqueductal stenosis with subsequent development of obstructive tumor: report of 2 cases demonstrating the importance of serial imaging

Journal of Neurosurgery Pediatrics ◽

10.3171/2017.5.peds1779 ◽

2017 ◽

Vol 20 (4) ◽

pp. 329-333 ◽

Cited By ~ 1

Author(s):

Jarod L. Roland ◽

Richard L. Price ◽

Ashwin A. Kamath ◽

S. Hassan Akbari ◽

Eric C. Leuthardt ◽

...

Keyword(s):

Late Onset ◽

Diagnostic Testing ◽

Subsequent Development ◽

Mass Effect ◽

Aqueductal Stenosis ◽

Pineal Region ◽

Serial Imaging ◽

Cerebrospinal Fluid Diversion ◽

First Case

The authors describe 2 cases of triventricular hydrocephalus initially presenting as aqueductal stenosis that subsequently developed tumors of the pineal and tectal region. The first case resembled late-onset idiopathic aqueductal stenosis on serial imaging. Subsequent imaging revealed a new tumor in the pineal region causing mass effect on the midbrain. The second case presented in a more typical pattern of aqueductal stenosis during infancy. On delayed follow-up imaging, an enlarging tectal mass was discovered. In both cases hydrocephalus was successfully treated by cerebrospinal fluid diversion prior to tumor presentation. The differential diagnoses, diagnostic testing, and treatment course for these unusual cases are discussed. The importance of follow-up MRI in cases of idiopathic aqueductal stenosis is emphasized by these exemplar cases.

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A 4-year follow-up study of 24 patients with late onset Pompe disease treated with alglucosidase alfa enzyme replacement therapy at a single centre

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.12.252 ◽

2015 ◽

Vol 114 (2) ◽

pp. S111

Author(s):

Karolina M. Stepien ◽

Jane Whitby ◽

Mark Roberts ◽

Reena Sharma

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Pompe Disease ◽

Late Onset ◽

Single Centre ◽

Enzyme Replacement ◽

Follow Up Study ◽

Alglucosidase Alfa

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Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

Clinical Chemistry ◽

10.1373/clinchem.2016.269027 ◽

2017 ◽

Vol 63 (7) ◽

pp. 1271-1277 ◽

Cited By ~ 20

Author(s):

Hsuan-Chieh Liao ◽

Min-Ju Chan ◽

Chia-Feng Yang ◽

Chuan-Chi Chiang ◽

Dau-Ming Niu ◽

...

Keyword(s):

Mass Spectrometry ◽

Newborn Screening ◽

Pompe Disease ◽

Late Onset ◽

Asian Population ◽

Dried Blood Spots ◽

Fluorimetric Assay ◽

Analytical Range ◽

Patient Referrals

Abstract BACKGROUND Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. Newborn screening for Pompe disease is ongoing, and improved methods for distinguishing affected patients from those with pseudodeficiency, especially in the Asian population, would substantially reduce the number of patient referrals for clinical follow-up. METHODS We measured the enzymatic activity of GAA in dried blood spots on newborn screening cards (DBS) using a tandem mass spectrometry (MS/MS) assay. The assay displayed a relatively large analytical range compared to the fluorimetric assay with 4-methylumbelliferyl-α-glucoside. DBS from newborns confirmed to have infantile-onset Pompe disease (IOPD, n = 11) or late-onset Pompe disease (LOPD) (n = 12) and those from patients bearing pseudodeficiency alleles with or without Pompe mutations, or Pompe disease carriers (n = 230) were studied. RESULTS With use of the MS/MS GAA assay in DBS, 96% of the pseudodeficiency newborns and all of the Pompe disease carriers were well separated from the IOPD and LOPD newborns. The fluorimetric assay separated <10% of the pseudodeficiencies from the IOPD/LOPD group. CONCLUSIONS The relatively large analytical range MS/MS GAA assay but not the fluorimetric assay in DBS provides a robust approach to reduce the number of referrals and should dramatically facilitate newborn screening of Pompe disease.

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Nonsymptomatic Generalized Epilepsy in Children Younger than Six Years: Excellent Prognosis, but Classification Should Be Reconsidered after Follow-up: The Dutch Study of Epilepsy in Childhood

Epilepsia ◽

10.1046/j.1528-1157.2002.72601.x ◽

2002 ◽

Vol 43 (7) ◽

pp. 734-739 ◽

Cited By ~ 6

Author(s):

C. M. Middeldorp ◽

A. T. Geerts ◽

O. F. Brouwer ◽

A. C. B. Peters ◽

H. Stroink ◽

...

Keyword(s):

Dutch Study ◽

Generalized Epilepsy

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CyberKnife rhizotomy for facetogenic back pain: a pilot study

Neurosurgical FOCUS ◽

10.3171/foc-07/12/e2 ◽

2007 ◽

Vol 23 (6) ◽

pp. E1 ◽

Cited By ~ 3

Author(s):

Gordon Li ◽

Chirag Patil ◽

John R. Adler ◽

Shivanand P. Lad ◽

Scott G. Soltys ◽

...

Keyword(s):

Back Pain ◽

Radiofrequency Ablation ◽

Facet Joint ◽

Late Onset ◽

Target Volume ◽

Facet Joints ◽

Positron Emission ◽

Cyberknife Radiosurgery ◽

Joint Injections

Object By targeting the medial branches of the dorsal rami, radiofrequency ablation and facet joint injections can provide temporary amelioration of facet joint–producing (or facetogenic) back pain. The authors used CyberKnife radiosurgery to denervate affected facet joints with the goal of obtaining a less invasive yet more thorough and durable antinociceptive rhizotomy. Methods Patients with refractory low-back pain, in whom symptoms are temporarily resolved by facet joint injections, were eligible. The patients were required to exhibit positron emission tomography–positive findings at the affected levels. Radiosurgical rhizotomy, targeting the facet joint, was performed in a single session with a marginal prescription dose of 40 Gy and a maximal dose of 60 Gy. Results Seven facet joints in 5 patients with presumptive facetogenic back pain underwent CyberKnife lesioning. The median follow-up was 9.8 months (range 3–16 months). The mean planning target volume was 1.7 cm3 (range 0.9–2.7 cm3). A dose of 40 Gy was prescribed to a mean isodose line of 79% (range 75–80%). Within 1 month of radiosurgery, improvement in pain was observed in 3 of the 5 patients with durable responses at 16, 12, and 6 months, respectively, of follow-up. Two patients, after 12 and 3 months of follow-up, have neither improved nor worsened. No patient has experienced acute or late-onset toxicity. Conclusions These preliminary results suggest that CyberKnife radiosurgery could be a safe, effective, and non-invasive alternative to radiofrequency ablation for managing facetogenic back pain. No patient suffered recurrent symptoms after radiosurgery. It is not yet known whether pain relief due to such lesions will be more durable than that produced by alternative procedures. A larger series of patients with long-term follow-up is ongoing.

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Application of parallel stent placement in the treatment of unruptured vertebrobasilar fusiform aneurysms

Journal of Neurosurgery ◽

10.3171/2015.12.jns151716 ◽

2017 ◽

Vol 126 (1) ◽

pp. 45-51 ◽

Cited By ~ 2

Author(s):

Jun Wang ◽

Xin-Feng Liu ◽

Bao-Min Li ◽

Sheng Li ◽

Xiang-Yu Cao ◽

...

Keyword(s):

Stent Placement ◽

Late Onset ◽

Posterior Inferior Cerebellar Artery ◽

Small Subset ◽

Acceptable Result ◽

Basilar Artery Thrombosis ◽

Artery Thrombosis ◽

Cerebellar Artery ◽

Placement Technique

OBJECTIVE Large vertebrobasilar fusiform aneurysms (VFAs) represent a small subset of intracranial aneurysms and are often among the most difficult to treat. Current surgical and endovascular techniques fail to achieve a complete or acceptable result because of complications, including late-onset basilar artery thrombosis and perforator infarction. The parallel-stent placement technique was established in the authors' department, and this study reports the application of this technique in the treatment of unruptured VFAs. METHODS Eight patients with 8 unruptured VFAs who underwent parallel stent placement between April 2011 and August 2012 were included. The diameters of the VFAs ranged from 7.9 to 14.0 mm, and the lengths from 27.5 to 54.4 mm. Of the 8 patients with unruptured VFAs, 3 received double or triple parallel stents and 5 patients received a series-connected stent with another 1 or 2 stents deployed parallel to them. Outcomes for these patients were tabulated, based on the modified Rankin Scale (mRS) score and angiographic results. RESULTS All of the 25 stents were successfully placed without any treatment-related complications. During follow-up, 5 patients had decreased mRS scores, 2 were unchanged, and 1 was increased for subarachnoid hemorrhage. Immediate and follow-up clinical outcome was completely or partially recovered in most patients. Follow-up angiograms revealed 2 aneurysms were reduced in size and 6 were unchanged after stent placement. No in-stent stenosis, occlusion of the posterior inferior cerebellar artery, or perforators jailed by the stent occurred in any of the aneurysms. CONCLUSIONS These results provide encouraging support for the parallel-stent placement technique, which can be envisaged as an alternative strategy against unruptured VFAs. However, testing in more patients is needed.

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Age, Age of Onset and Course of Primary Depressive Illness in the Elderly*

The Canadian Journal of Psychiatry ◽

10.1177/070674378302800204 ◽

1983 ◽

Vol 28 (2) ◽

pp. 102-104 ◽

Cited By ~ 32

Author(s):

Martin G. Cole

Keyword(s):

Elderly Patients ◽

Depressive Episode ◽

Early Onset ◽

Age Of Onset ◽

Late Onset ◽

The Elderly ◽

Depressive Illness ◽

Physical Illness ◽

Course Of Illness

Thirty-eight elderly patients with primary depressive illness (Feighner criteria) were followed up for 7–31 months. In the absence of persistent organic signs and severe physical illness, age of onset (first depressive episode after 60) but not age was significantly related to course of illness. Compared to early onset depressives, late onset depressives were more likely to remain completely well during the follow-up period and less likely to have frequent or disabling relapses.

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Smell identification test as a progression marker in Alzheimer's disease

European Psychiatry ◽

10.1016/s0924-9338(11)72209-x ◽

2011 ◽

Vol 26 (S2) ◽

pp. 502-502

Author(s):

L. Velayudhan ◽

M. Pritchard ◽

S. Lovestone

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Cognitive Decline ◽

Late Onset ◽

Linear Regression Analysis ◽

Rapid Progressors ◽

Progression Marker ◽

Identification Test ◽

Smell Identification

IntroductionFactors influencing or predicting progression in Alzheimer's disease (AD) is not well understood. Olfactory dysfunction, impaired smell identification in particular, is known to occur in AD. Mesial temporal lobe, important for memory function is also critical for the processing of olfactory information. In view of the common anatomical substrate, we hypothesized that olfaction dysfunction worsens faster in people with AD with rapid cognitive decline compared to those with slower cognitive decline.AimsTo test whether smell identification test can be used as a predictor for illness progression in AD patients.MethodsForty one participants with late onset mild to moderate AD were recruited from mental health services for older adults. Subjects were classified as ‘Rapid Progressors’ defined on ‘a-priori’ with a loss of 2 or more points in Mini-Mental State Examination (MMSE) within six months. Assessments included MMSE, Neuropsychiatric Inventory, Bristol Activities of Daily Living, and the University of Pennsylvania Smell Identification Test (UPSIT), at baseline and after 3 months.ResultsTwenty subjects were ‘Rapid Progressors’, and had lower UPSIT scores compared to ‘Non-Rapid Progressors’ both at the baseline (p = 0.02) and at follow up after 3 months (p = 0.05). Baseline UPSIT correlated with follow up UPSIT (r = 0.5, p < 0.01) and MMSE (r = 0.4, p = 0.04). Also it was the baseline UPSIT score that best predicted (p < 0.05) the follow up smell and cognitive function on linear regression analysis.ConclusionsSmell identification function could be useful as a clinical measure to assess and predict progression in AD.

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