The disease presentation of Moyamoya angiopathy in Eastern India.

INTRODUCTION: Clinical spectrum of Moyamoya angiopathy (MMA) differs across populations with different ethnicity. This study, the largest one done among Indian population was undertaken to assess clinico-radiological profile of MMA patients in eastern India. METHODS: A single centre cross-sectional study was undertaken among 76 MMA cases. Each patient was evaluated for epidemiological, clinical and radiological characteristics. SPSS 25 was used for statistical analysis. P < 0.05 was taken as statistically significant. RESULTS: 36 (47.4%) were children without gender preponderance. There were female predominance among adults (male:female = 1:2.33). Mean age at onset of first neurological symptoms for children was 4.2 ± 2.0years, followed by 34.9 ± 58.2months of latency with final diagnosis at the mean age of 7.4 ± 3.5years. For adults, mean age of onset of first neurological symptoms was 31.5 ± 12.3years, followed by 14.7 ± 41.7months time gap and diagnosed at the mean age of 33.5 ± 12.5years. There was a statistically significant difference between child and adult regarding the diagnostic latency (p = 0.035). Fixed motor weakness (FMW) was the predominant symptom across the whole disease course. Among children predominant first neurological symptom was fixed motor weakness (FMW) (52.8%), followed by seizures (22.2%). FMW was predominant (55%) first neurological complaint, followed by headache (22.5%) among adults. Seizure was more prevalent among children both as first (p = 0.002) and presenting symptom at the time of diagnosis (p = 0.048). Over the course of the disease seizure was more common among children (p = 0.001), while headache was more common among adults (p = 0.017). Recurrence of symptoms was more common among children (p = 0.059). Infarcts were more common among children (91.7%) than adults (72.5%), while hemorrhage was seen only among adults (25%) (p = 0.004). Isolated cerebral cortex was involved more commonly among children (59.4%) than adults (36.1%), while isolated subcortical involvement was seen only among adults (19.4%) (p = 0.016). Majority of the MMA cases were of Suzuki stage 4 (39.5%) and 5 (27.6%). Brain atrophy was associated with diagnostic latency (p = 0.009). CONCLUSION: Indian Moyamoya presents similar to disease presentation in Caucasian and Japanese patients. It is a frequently overlooked cause of stroke in young, often with various non-motor presentations, failure to recognize which leads to delay in diagnosis. Radiological burden disproportionate to number of acute vascular events, with subtle neurological manifestations like headache or seizure, often with cognitive decline, should raise suspicion of MMA.

Predicting Long-Term Outcome of Patients of Early Parkinsonism with Acute Levodopa Challenge Test.

OBJECTIVES: The aim of this study was to evaluate the sensitivity and specificity of various outcomes of acute levodopa challenge test (ALCT) namely improvement of motor function, development of dyskinesia and intolerance; to predict the diagnosis of idiopathic Parkinson's disease (IPD) or Parkinson-plus syndrome; to predict levodopa responsiveness and levodopa-induced dyskinesia (LID) during long-term therapy. METHODS: ALCT was performed on 89 patients with parkinsonism of <2 years and were followed up for 18 months. Improvement of UPDRSm by ≥30% was considered positive. RESULTS: The test was positive in 37 (43.5%) and negative in 48 (56.5%) of 85 patients completing it. Of the 75 patients completing 18 months' follow-up 34 (45.3%) were diagnosed as IPD. A positive ALCT predicted a clinical diagnosis of IPD with sensitivity and specificity of 97.4% and 70.7% respectively. The predictive value of ALCT for long-term levodopa responsiveness was less than predicting a diagnosis of IPD. While appearance of dyskinesia during ALCT had a low predictive value for future LID (sensitivity 14.3%), it had high predictive value for a diagnosis of multisystem atrophy (MSA) (91% specificity and 37.5% sensitivity). The appearance of symptoms of levodopa intolerance (SLI) during ALCT could predict a clinical diagnosis of MSA with high specificity (95.5%) and moderate sensitivity (50%). CONCLUSION: Levodopa responsiveness during ALCT was useful in predicting a diagnosis of IPD but not long-term response to levodopa. The development of dyskinesia during ALCT could not correctly predict LID, but could predict a diagnosis of MSA. The appearance of SLI during ALCT could also predict MSA correctly.

Thalassemia and Moyamoya syndrome: unfurling an intriguing association.

INTRODUCTION: Moyamoya angiopathy (MMA) is a rare cerebrovascular disease with progressive bilateral narrowing of intracranial parts of the internal carotid artery and proximal parts of the anterior and middle cerebral artery resulting in recurrent hemodynamic ischemic attacks, strokes and hemorrhages. If associated with other diseases, it is called Moyamoya syndrome (MMS). Until now, MMS has rarely been described with thalassemia. METHODS: Of the 75 cases of MMA collected in our Indian center in the last 3 years, 4 new patients with the rare cooccurence of thalassemia and MMS were found. Thalassemia cases were confirmed by hemoglobin electrophoresis and MMA was diagnosed on the basis of MR angiography. Other known secondary causes of MMA were ruled out by relevant investigations. Thirteen previously reported cases of thalassemia and MMA were retrieved by literature search in PubMed and Google Scholar using the keywords "Moyamoya" AND "thalassemia". Subsequently all the data were analyzed and compared by using descriptive statistics. RESULTS: Analysis of our 4 cases and those 13 found in the literature showed early childhood diagnosis of thalassemia and in most cases later manifestation of MMS in the age of 14.5 + 10.72 years (mean + SD) in our cases and with 10.97 + 6.47 years in previous cases. While 9 out of the former 13 and 3 of our 4 cases showed obvious infarcts in brain imaging, 1 case with HbE-ß-thalassemia presented with intracerebral hemorrhage. Hemiplegia/hemiparesis was present among all of our 4 cases, while it was present in 69.23% cases of the previous 13 reports. Neither transfusion dependence nor the history of splenectomy was found to be associated with MMA development. CONCLUSION: These four new cases of MMS in thalassemia enlarged our knowledge about MMS in patients with thalassemia. MMS is a relevant complication in patients with thalassemia and early detection is essential to avoid disability.