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CNKSR2 variants have been associated with X linked intellectual disability and epilepsy including developmental and epileptic encephalopathy with spike wave activation in sleep (D/EE SWAS) in males. We aimed to describe a sibling pair with a novel pathogenic variant in CNKSR2 with D/EE SWAS and review published cases of D/EE SWAS. A retrospective chart review and a comprehensive review of the literature were conducted. Two brothers with a novel pathogenic variant in the CNKSR2 gene (c. 114delG, p.Ile39SerfsX14) were identified. The epilepsy phenotype was similar to previous cases and was characterized by early onset seizures, nocturnal seizures (focal motor with/without impaired awareness), global developmental delay and language impairment, frontal central temporal predominant epileptiform discharges with a spike wave index >95%, and treatment resistance. However, phenotypic variability was observed and the younger brother had milder neuro developmental impairment, and the diagnosis of D/EE SWAS was made by surveillance electro encephalogram (EEG). Literature search yielded 23 cases, and their clinical/neuro physiological features are discussed. To conclude, CNKSR2 related D/EE SWAS may be early onset and occur before the age of 5 years in some. Early surveillance EEG may aid in diagnosis. Phenotypic variability was observed in our cases as well as sibling pairs in the literature, which may impact genetic counseling. [ABSTRACT FROM AUTHOR]

Purpose: To provide real-world data on the world-wide-web for patient and doctor awareness.Methods: From December 2017 to January 2020, consecutive patients with choroidal melanoma (CM), iris ciliary body melanoma (ICM), and ocular surface squamous carcinoma (OSSC) had specific outcomes recorded at each return visit. Each result was anonymized, entered in an online portal, and sent to a unique software program where it was used to create real-world data of number of patients, mean vision, local tumor control, eye salvage, systemic metastases, and length of follow-up for our eye cancer center.Results: A HIPAA compliant, internet-based software program was developed and linked to public access web page to collect and analyze near-real-time data pertaining to the treatment, vision, life, and follow-up time of patients. During this period, CM radiation plaque tumor control was 99.7%, median vision 20/25 (mean 20/50) and eye salvage 95.8%. ICM tumor control was 99.1% and the median vision 20/20 (mean 20/20). OSSC tumor control was 100% and the most common vision was 20/20 (mean 20/25). Rates of primary enucleation as treatment were 4.2% for CM, 2.8% for ICM, and 0% for OSSC. All patient results were updated by the ophthalmic oncology fellow at each patient visit as to reflect near-real-time outcomes at our center.Conclusion: Prospective data collection of returning patients was found to be a simple method to reflect patient care outcomes. This method of reporting doctor outcomes offers a measure of transparency for patients and an opportunity to compare results with other clinical practices. [ABSTRACT FROM AUTHOR]

Objectives: To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population. Materials and Methods: This cross-sectional study enrolled children aged 2--5 years with prior diagnosis of WS between November 2013 and March 2015. They were assessed for epilepsy outcome and developmental outcome using developmental profile 3 (DP3) and vineland adaptive behavioral scale II (VABS II). Results: Sixty-one children were enrolled. Perinatal asphyxia (40.9%), neonatal hypoglycemia (14.8%), and neonatal meningitis (9.8%) were predominant causes among the children with known etiology. Favorable epilepsy outcome (seizure freedom for >6 months) was observed in 29/61 patients (47.5%). Moderate to severe developmental delay was observed in 55/61 children (91.8%). Favorable developmental outcome (GDS by DP3 >70) was observed in just 5/61 (8%) patients. Conclusions: This study highlights the high prevalence of developmental delay in this population of children with WS, with adverse perinatal events being the most common etiology. [ABSTRACT FROM AUTHOR]

Background: Guillain-Barre syndrome (GBS) is a common acquired polyneuropathy in children.Aim: To describe the clinical and serial electrophysiological features along with short-term outcomes of children with GBS in north India.Setting and Design: This was a prospective study conducted at a tertiary care pediatric hospital in north India.Materials and Methods: Consecutive children, aged 2 to 18 years, with GBS, presenting within 4-weeks of onset of weakness, diagnosed on clinical and/or electrophysiological grounds, were enrolled. The enrolled children underwent a detailed clinical-assessment followed by nerve conduction studies. Repeat nerve conduction studies were performed after 2-weeks of the first study to determine changes in the electrophysiological subtype. The patients were followed up for 3 months.Results: Thirty-six children were studied. The mean age at presentation was 5.1 years [standard deviation (SD): 2.1]. The mean medical research council (MRC)-sum-score at admission was 24.1 (SD: 10.4). Thirty-three children (91%) had loss of ambulation, 24 (66%) had cranial nerve involvement, and 6 (16.6%) required ventilation. At presentation, 20 had acute motor axonal neuropathy (AMAN), 13 had acute inflammatory demyelinating polyneuropathy (AIDP), 2 had in-excitable nerves, and 1 had normal findings. Four children, initially diagnosed as AIDP, had AMAN with reversible conduction failure on the repeat study. The final classification was AMAN in 25 (69.4%; 95% confidence interval (CI), 51.9-83.7%) and AIDP in 9 children (25%; 95% CI, 12.1-42.2%). Only one patient was nonambulatory at a 3-month follow-up (n = 32). The Erasmus GBS outcome score was 2 in 2 (5.6%), 3 in 5 (13.9%), 4 in 26 (72.2%), and 5 in 3 (8.3%) patients.Conclusions: The serial electrophysiological studies were helpful in establishing the final correct diagnosis. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study is to describe the clinical characteristics, multimodality imaging findings, and clinical course of iris varices.Methods: Retrospective, noncomparative, observational case series of 28 eyes of 26 patients with iris varices, diagnosed between 2007 and 2017, has been used.Results: The mean (±SD) age was 58.3 ± 12.5 years (median 57.5, range 37-81). Patients were 57.7% male and 27% hypertensive. Varices were bilateral in two patients. The mean and median visual acuities were both 20/20 (range 20/16-20/40). Intraocular pressures were 16 mmHg (10-23 mmHg). Secondary glaucoma did not occur. The inferotemporal iris quadrant was affected in 75%. A single varix was seen in 64% and 36% appeared multiple. Varix orientation was radial in 57% and circumferential in 21%. Combined radial and circumferential varix orientation was noted in 18%. One had independent radial and circumferential varices in separate quadrants. A single episcleral sentinel blood vessel directed to the varix was present in 36%. Ultrasound biomicroscopy (UBM) showed a slightly increased mean iris thickness of 0.8 mm and multiple echolucent iris stromal vascular channels. Iris angiography showed no leakage of dye. Managed by observation over a mean follow-up of 37.7 months (range, 3-129), 96.4% eyes were stable and one (3.6%) regressed. No corectopia, ectropion uveae, hyphema, or metachronous anterior segment benign or malignant tumors occurred.Conclusion: Iris varix is primarily located in the inferotemporal quadrant and not associated with dysmorphic pupillary findings, progression, secondary glaucoma, or malignancy. Iris varices were benign vasculopathies with no associated ocular or vision-related morbidity. [ABSTRACT FROM AUTHOR]

The article presents case study of a 17‑month old boy who was diagnosed with hypomagnesemia (HSH) with secondary hypocalcemia with a novel TRPM6 mutation. It presents clinical and biochemical characteristics of inherited hypomagnesemia disorders. It states that hyperphosphatemia is associated with decreased secretion as well as resistance to Parathyroid hormone (PTH) action in the presence of hypomagnesemia. It presents information on importance of measuring serum magnesium.

Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis.Settings and Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center.Patients and Methods: All patients attending genetic clinics over a 3-year period were analyzed. Clinical profile and baseline investigations were noted on a predesigned proforma. Among the 65 studied cases, there were 12 cases suggested to be having Prader-Willi syndrome (PWS), 27 cases with DiGeorge/velocardiofacial syndrome (DGS), and 1 case with Williams-Beuren syndrome (WBS). These were detected by fluorescent in situ hybridization (FISH) analysis with specific probes and were excluded from the final analysis. Chromosomal microarray analysis (CMA; single-nucleotide polymorphism-based array-comparative genomic hybridization) was performed as per the clinical indication in selected patients with dysmorphism, microcephaly, mental retardation, and/or multiple malformations. These patients had a negative result on FISH analysis.Results: In suspected patients with PWS, FISH and methylation testing confirmed six cases to be really PWS. FISH also detected five cases of DGS and one case of WBS. These were excluded from the final analysis. Among the 18 cases tested by CMA, in 13 patients, abnormalities with potential clinical significance were identified. Genetic counseling was done in all these cases. Prenatal diagnosis was done in one family.Conclusion: In cases with dysmorphism with or without mental retardation or cardiac defect, advanced studies such as CMA can lead to a definitive diagnosis. Genetic counseling is mandatory in all these cases and a prenatal diagnosis is also feasible in selected families. [ABSTRACT FROM AUTHOR]

Background: West syndrome is a catastrophic epilepsy syndrome characterized by infantile spasms, hypsarrhythmia, and developmental arrest or regression.Aim: The aim of this study was to explore the role of pyridoxine in the management of infantile spasms.Setting and Design: This was a pilot, randomized, open-label trial conducted at a tertiary level hospital from November 2012 to March 2014.Materials and Methods: Children aged 3 months to 3 years presenting with infantile spasms in clusters (at least 1 cluster/day) with hypsarrhythmia or its variants on electroencephalogram (EEG) were enrolled. The study participants were randomized to receive either oral prednisolone (4 mg/kg/day) alone or 30 mg/kg/day of pyridoxine with oral prednisolone. The primary outcome measure was the proportion of children who achieved spasm freedom for 48 h on day-14 after treatment initiation, as per parental reports, in both the groups. The adverse effects were also monitored. The study was registered with clinicaltrials.gov (ClinicalTrials.gov Identifier: NCT01828437).Results: Sixty-two children were randomized into the two groups with comparable baseline characteristics. The proportion of children with spasm cessation on day-14 was similar in the two groups (39 vs. 37%, P = 0.98). The adverse effects were comparable in both the groups.Conclusions: The combination of pyridoxine with oral prednisolone was not found to be a beneficial therapy as compared to prednisolone alone in the treatment of infantile spasms in this pilot study. However, high dose pyridoxine may be safe in children with infantile spasms. [ABSTRACT FROM AUTHOR]

BACKGROUND: Guidelines recommend ABO-identical platelet (PLT) transfusions. Hemolytic reactions after a minor ABO-incompatible PLT transfusion have escalated due to single-donor platelets (SDP) containing ABO-incompatible plasma. Avoiding such events by examining titers or performing plasma reduction is cumbersome. The introduction of platelet additive solutions (PAS) has enabled to reduce these reactions by avoiding passive transfer of isoagglutinin. Our aim was to study antibody titers (anti-A, anti-B) in "O" SDP by adding PAS at source and the quality parameters with reference to viability, morphology, and metabolism. MATERIALS AND METHODS: Group "O" SDP (n = 50) were prepared on a standard cell separator. PAS in a ratio of 70:30 (PAS: plasma) was added at source under sterile conditions (study arm). The units were studied on day of collection (day 0) and day 4 and compared with SDP containing 100% plasma (control arm). A titer study was performed after PAS addition. RESULTS: In the study group, the median antibody titers (anti-A, anti-B) reduced from 128 to16, post-PAS addition (P < 0.001). Morphology scores were superior in PAS platelet concentrates (P < 0.001). Metabolic parameters pO2 and pCO2 were similar in the two arms signifying good unit storage and stable oxygen consumption (P > 0.05). Lactate levels, glucose consumption rate, and lactate production rates were significantly low in study arm showing the advantage of PAS. CONCLUSION: O group SDPs can be prepared with PAS and the beneficial effects were significant with respect to antibody titers. Quality parameters were well maintained. Availability of PAS units has benefitted patients. [ABSTRACT FROM AUTHOR]

The article presents the discussion on Infantile spasms syndrome (ISS) being a severe epileptic encephalopathy characterized by epileptic spasms, developmental stagnation and/or regression. Topics include treatment of ISS showing the use of anti‑seizure medications and hormonal therapy in the form of prednisolone or adrenocorticotropic hormone; and determining other forms of steroid therapy being used for the treatment of ISS.

Introduction: Hyperleukocytosis (HL) and leukostasis seen in myeloid leukemias are a medical emergency. We present a case series of ten such patients in a 4-year period. Sixteen therapeutic leukocyte reduction (TLR) were done in ten cases along with other supportive measures. The American Society for Apheresis supports the routine implementation of TLR in cases of HL secondary to myeloid leukemias with signs of leukostasis. Materials and Methods: The procedures were performed on the intermittent flow cell separator after discussion with the treating physician about patient's condition. Clinical, demographic, analytical, and technical variables were reviewed retrospectively and the patients were followed up at the end of 4 years. Descriptive analysis was performed for all variables, and relationships between quantitative variables and categorical variables were determined by applying the Student's t-test. Results: The mean age of presentation was 34 years. Priapism was the most common symptom followed by respiratory distress and neurological disturbances. After an average of 1.6 TLR procedures, the mean leukocyte count reduction achieved was 39.9% along with symptomatic relief. The mean survival at 4-year follow-up was 12.8 months and the overall mortality was 20%. Acute myeloid leukemia patients presented with lower mean platelet counts compared to chronic myeloid leukemia patients; however, the platelet loss in the final product was minimized. Conclusion: TLR is a safe and effective therapy for leukoreduction in hematological malignancies in our experience. [ABSTRACT FROM AUTHOR]

Background and Objectives: The occurrence of hemolysis due to transfusion of ABO plasma-incompatible platelets (PLTs) is challenging. There has been no consensus for critical antibody titers in the transfusion community. This study was conducted to understand the trends of anti-A and anti-B antibody titer levels in O group donors and to identify any specific patterns of distribution in relation to age and gender. Materials and Methods: A total of 1635 Group O PLT donors were randomly selected for this prospective study. Serial 2-fold doubling dilutions were prepared for each sample to calculate the titer of anti-A and anti-B in a standard 96 well micro-plate. Tube technique was used for comparison with the microplate method for 100 samples. Results: Out of 1635 donors, 1430 (87.46%) were males and 205 (12.54%) were females. The median titer for anti-A and anti-B was 128 with range from 4 to 2048. Spearman's correlation coefficient for microplate versus tube technique was estimated to be 0.803 (P < 0.01, two-tailed). 57.12% and 51.19% of all donors had titers ≥128 for anti-A and anti-B, respectively. The geometric mean of anti-A and anti-B was 155.7 and 137.28, respectively. The titers were significantly higher (P < 0.001) in female donors. An inverse relation between titer levels and age was seen. Conclusion: Microplate can be used to perform titers in resource-constrained settings. Screening for critical titers in O group donors is essential as they are more implicated in hemolytic transfusion reactions. In the absence of a global consensus on this topic, institutes may need to formulate their own guidelines on handling ABO plasma-incompatible PLT transfusions. [ABSTRACT FROM AUTHOR]

A 39-year-old female presented with a painless yellow-pink tumor on her right eye. High-frequency ultrasound imaging revealed an epibulbar lesion with homogenous low internal reflectivity and no evidence of intraocular invasion. The patient underwent excisional biopsy leading to a pathology diagnosis of myxoma. Additional surgical margins as well as adjuvant cryotherapy margins were followed by extensive conjunctival repair. Herein, we report on a conjunctival myxoma with unique ultrasonographic findings. [ABSTRACT FROM AUTHOR]

Background: The modified Atkins diet (MAD) has been used predominantly in older children, adolescents, and adults. There is a paucity of data on the use of the MAD in refractory epilepsy in young children. Objectives: This study was planned to evaluate the efficacy and tolerability of the MAD in refractory epilepsy in young children. Methods: This study recruited children aged 9 months to 3 years with refractory seizures. Children received MAD for 6‑month with the on‑going anticonvulsant medications being continued unchanged. Reduction in seizure frequency was the primary outcome measure. Adverse effects were also studied. Results: Thirty‑one children with daily seizures were studied with a median age of 18‑month (range 9–30 months). West syndrome was the most common epilepsy syndrome (26, 86.6%). Twenty‑one children remained on diet at 3 months and 13 at 6 months. The children who achieved >50% seizure reduction were 17 (54.8%) at 3 months and 9 (29%) at 6 months. Refusal to eat was a significant problem seen in eight children. Three children discontinued the diet due to adverse effects. Conclusion: The MAD was found to be feasible, effective, and well‑tolerated. [ABSTRACT FROM AUTHOR]

Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India. Materials and Methods: The case records of 80 confirmed cases of leukodystrophy were reviewed and the cases have been described in terms of their clinical presentation and neuroimaging findings. Results: The cases have been grouped into five categories: Hypomyelinating, demyelinating, disorders with vacuolization, cystic, and miscellaneous. The commonest leukodystrophies are megalencephalic leukoencephalopathy with subcortical cysts (MLC), Pelizaeus-Merzbacher disease (PMD), and metachromatic leukodystrophy (MLD). A notable proportion of hypomyelinating disorders were uncharacterized. Conclusions: Leukodystrophies at this point of time have no definite cure. They have a progressively downhill clinical course. Early diagnosis is imperative for appropriate genetic counseling. A simplified approach to diagnose common leukodystrophies has also been provided. It is important to develop a registry, which can provide valuable epidemiological data to prioritize research in this field, which has many unanswered questions. [ABSTRACT FROM AUTHOR]

Objectives: Triclofos may be a better sedative in view of better palatability and less gastric irritation as compared to chloral hydrate. This study aimed to assess the efficacy of triclofos (a commonly used sedative in India) as a sedative for sleep electroencephalogram (EEG) study in children. Methods: This prospective observational study was carried out in a tertiary care pediatric center. Consecutive children aged 6 months to 5 years referred for sleep EEG evaluation were recruited. Their clinical details were noted in a proforma after an informed consent. After a trial for natural sleep, oral triclofos was administered. Sleep parameters and adverse effects were noted. Results: One‑hundred and sixty children were then enrolled. EEG was successfully recorded in 149 (93.1%) children. Median latency of sleep onset was 30 min and median duration of sleep was 90 min. The adverse effects in the following 24 h were mild and included dizziness, irritability, and vomiting. Conclusions: Oral triclofos was found to be an effective sedative for EEG in children with minimal adverse effects. [ABSTRACT FROM AUTHOR]

The article discusses the case of a 14-year-old girl with anti-N-methyl-D-aspartate antibodies-receptor (NMDAR) encephalitis. Topics include the treatment given to the girl while in the hospital, seizures as a common presentation in an anti-NMDA encephalitis, and the presence of extreme delta brushes (EDP) in the electroencephalogram (EEG) of individuals with anti-NMDA encephalitis.

Objective: This is a retrospective chart review of consecutive children with acquired demyelinating disorders presenting to a north Indian tertiary care hospital over 4 years. The aim of this review is to describe all the patients (with single event as well as those with recurrences) with detailed description of those who recurred. Materials and Methods: Overall 35 cases were reviewed and their clinical presentations, diagnosis, management, and follow-up are being presented. Results: Out of 35 cases, 24 did not show any recurrences (seven acute disseminated encephalomyelitis (ADEM) and 17 clinically isolated syndromes). Amongst the 11 patients with recurrent demyelination, majority were multiple sclerosis (8/11, 72.7%) followed by neuromyelitisoptica (NMO; 2/11), and multiphasic ADEM (1/11). The median disease duration and follow-up since onset for those with recurrent episodes is 4 years (2.5-4.5 years). Steroids caused significant improvement in acute episodes of demyelination. However, recurrent demyelinating disorders like multiple sclerosis and NMO required long-term immunomodulation. Azathioprine currently is the most favored long-term immunomodulator used in NMO. Interferon-β and glatiramer acetate are currently recommended for multiple sclerosis. However, azathioprine may be a suitable alternative in a resource-limited setting. Conclusion: The consensus definitions for these groups of disorders need further validation in the pediatric age group. Studies with larger population size are required to characterize features that predict future recurrences. [ABSTRACT FROM AUTHOR]

Objectives: The prevalence of obesity is rapidly increasing among Indian children, who, in general, are more prone to develop metabolic complications at an early age. Valproate and phenytoin are commonly used antiepileptic drugs in children. This study aimed to assess the parameters of the metabolic syndrome in Indian children with epilepsy on valproate or phenytoin monotherapy. Methods: This cross‑sectional study recruited children from the Pediatric Epilepsy Clinic, Department of Pediatrics, Kalawati Saran Children Hospital, New Delhi from March 2012 to September 2012. All consecutive children diagnosed with epilepsy as per International League Against Epilepsy definition aged 3–18 years on valproate or phenytoin monotherapy for at least 6 months were enrolled at a tertiary care children’s hospital in Northern India. After clinical and anthropometric evaluation (including body mass index [BMI] and waist circumference), the blood samples were analyzed for fasting serum glucose, total cholesterol, high‑density lipoprotein‑cholesterol, and serum triglyceride. Results: Children with BMI >95th centile and waist circumference >90th centile were not significantly different among children on valproate and phenytoin monotherapy. Children on valproate had significantly higher mean serum triglyceride (96.9 mg/dL vs. 77.6 mg/dL; P < 0.001) and total cholesterol (148.3 mg/dL vs. 132.8 mg/dL; P = 0.002) levels as compared to children on phenytoin monotherapy. Conclusions: The lipid abnormalities may be observed in children on valproate or phenytoin therapy and may warrant periodic screening. [ABSTRACT FROM AUTHOR]

Background: Valproate is a commonly used anticonvulsant drug. Uridine 5'-diphospho (UDP)-glucuronosyltransferase (UGT) contributes to around 50% of valproate metabolism and its polymorphisms may be important for explaining the considerable variation in valproate levels in patients with epilepsy. Aim: This study was aimed to analyze the genetic polymorphisms of UGT1A6 in Indian children with epilepsy and their potential influence on the pharmacokinetics of valproate. Setting and Design: This cross-sectional study was carried out in the Department of Pediatrics, All India Institutes of Medical Sciences (AIIMS), New Delhi, between March 2011 and July 2012. Materials and Methods: Children aged 3-12 years diagnosed with epilepsy on valproate monotherapy for at least 1 month were enrolled. They underwent a detailed clinical examination. The UGT1A6 polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Random samples were checked by genetic sequencing. The steady-state plasma concentrations of valproate were measured by High Performance Liquid Chromatography (HPLC) and associated with UGT1A6 polymorphisms. Results: A total of 80 children were studied. The prevalence of UGT1A6 T19G was as follows: TT (45%), TG (38.8%), and GG (16.3%); that of UGT1A6 A541G was: AA (48.8%), AG (38.8%), and GG (12.5%); and that of UGT1A6 A552C was: AA (43.8%), AC (40%), and CC (16.3%). The association between valproate doses or standardized serum valproate concentration and the various UGT1A6 genotypes could not be studied reliably in this small study population. Conclusions: The frequencies of UGT1A6 geneotypes and alleles were reported in the study population. [ABSTRACT FROM AUTHOR]

The ketogenic diet is a high-fat, low-carbohydrate, and restricted protein diet that is useful in patients with refractory epilepsy. The efficacy of the ketogenic diet is better than most of the new antiepileptic drugs. Other modifications of the diet are also beneficial, such as the modified Atkins diet and the low glycemic index treatment. There is a lack of awareness of the ketogenic diet as a treatment modality for epilepsy amongst pediatricians and neurologists. In this review, the use of the ketogenic diet and other dietary treatments in refractory epilepsy is discussed. The Indian experience with the use of these dietary treatments is also briefly reviewed. [ABSTRACT FROM AUTHOR]

Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute. Setting/Design: The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported. Statistical analysis used: Descriptive statistics were used. Results: During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrhythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels. Conclusions: Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis. [ABSTRACT FROM AUTHOR]

The article discusses the case study of a 4.5-year-old boy with late infantile neuronal ceroid lipofuscinoses and reach the appropriate age when his parents noticed the decrease of his speech output and slurring. He undergoes on magnetic resonance imaging of the brain and was revealed that he had a mild cerebellar atrophy. The article discusses the neuronal ceroid lipofuscinoses (NCL), a common etiology for neurodegeneration in childhood.

The article presents a case study of a 13-year-old Nepalese male child with Niemann-Pick type C disease. It mentions that the boy experienced abnormality in the gait, drop attacks and unsteady movement. It also notes his difficulty and slowness in speaking along with poor scholastic performance despite lack of history of having seizures.

The rare association of pontocerebellar hypoplasia with anterior horn cell involvement has been classified as pontocerebellar hypoplasia type 1. Its classic phenotype is usually severe. However, the pontocerebellar hypoplasia type 1 may have wider variability in clinical and radiological features. There may be a genetic heterogeneity as well. We described here a young girl with relatively milder clinical phenotype with cerebellar atrophy with absent pontine involvement, further adding to the clinical phenotype. [ABSTRACT FROM AUTHOR]

The article presents a case study of 9‑year old boy presented with frequent brief paroxysmal events for the last six months. It mentions that diagnosis by electroencephalogram (EEG) showed benign EEG variants like 14‑ and 6‑Hz positive bursts and N waves which are predominantly seen during drowsiness, light and rapid eye movement (REM) sleep, and have maximal amplitude over the posterior temporal head region.

The article presents a case study of a three an half‑year‑old girl was taken to hospital due to daily seizures problem. It mentions the presence of cognitive decline, behavioural abnormalities, or abnormal body movements in patient. It also mentions that absence of seizures may be associated with myoclonic jerks and limited area of the face or neck.

The article presents a case study of a 4‑year‑old girl with speech delay and refractory seizures. It mentions that the patient has no adverse perinatal events, had normal motor milestones, and could speak only a few bisyllables. It also mentions the use of magnetic resonance imaging (MRI) and electroencephalogram (EEG) for examine the patient.

A letter to the editor discussing skeletal muscle ryanodine-associated core myopathy is presented.

Basal ganglia stroke is known following trivial head trauma. Recently a distinct clinic-radiological entity termed 'mineralizing angiopathy' was described. We report an infant who developed basal ganglia stroke following trivial fall. His clinic-radiological features are described. [ABSTRACT FROM AUTHOR]

The article presents information on subacute sclerosing panencephalitis (SSPE) masquerading as rapid-onset dystonia-Parkinsonism in a child. SSPE is a progressive neurodegenerative disorder due to a persistent infection of the brain by an aberrant measles virus. Its occurrence remains high in developing countries such as India.