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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]

An epileptic seizure is defined as transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in brain. There are diverse etiologies for acute seizure in infants and children. The present review provides a broad approach to diagnosis and treatment plan for acute seizure in children. The approach to a child with acute seizure is discussed with special emphasis on clinical approach based on history and focused examination with judicious choice of investigation and further management plan. The review also emphasizes on recognizing common nonepileptic events that masquerade as true seizure among infants and children. [ABSTRACT FROM AUTHOR]

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]

Fungi are a relatively uncommon cause of brain abscess in neonates and early infancy. They are usually associated with predisposing factors like prematurity, low birth weight, use of broad-spectrum antibiotics, and prolonged stay in the intensive care unit. Candida tropicalis (C. tropicalis) is rapidly emerging as a nosocomial threat in the neonatal intensive care settings. This case report describes a neonate with C. tropicalis brain abscess who was diagnosed early and managed aggressively with a favorable outcome. Inadvertent use of intravenous antibiotics can have serious complications such as invasive fungal infection. Correct microbiological diagnosis is the key to successful treatment of deep-seated pyogenic infection. Fungal etiology should always be studied in relevant clinical settings. [ABSTRACT FROM AUTHOR]

Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as paroxysmal dyskinesia, an entity known as Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as seizures and he was started on multiple antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of dyskinesia was kept. However, when he did not respond to symptomatic therapy, Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal facies with flaccid quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to therapy in GER should prompt search for an underlying secondary etiology. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 10‑month‑old boy who altered sensorium along with right hemiparesis. Topics include considered clinical diagnosis of left middle cerebral artery territory AIS kept and MRI brain confirmed; examines sonography and Doppler of neck vessels, left internal carotid artery are not visualized; and the diagnosis of congenital thrombotic thrombocytopenic purpura, hemolytic uremic syndrome (HUS) considered and clinical exome sequencing are ordered.

The article describes the case of a 10-year-old girl presented with a history of right focal seizures, weakness in the right side of the body, and a week-long absence of speech but without a history of associated medical conditions. Her magnetic resonance imaging (MRI) results suggest the presence of multiple collaterals which led to the diagnosis of moya-moya. A discussion of the cerebrovascular condition moyamoya is also presented.

The article presents a case study of a 5-month-old boy with Pelizaeus-Merzbacher disease (PMD). Topics discussed include observation of several symptoms such as pendular nystagmus in the patient, analysis of hypomyelination through brain's magnetic resonance imaging (MRI), confirmation for PMD diagnosis through proteolipid protein 1 (PLP1) gene triplication at Xq22, initiation of PMD with genetic mutation of the PLP1 gene and consideration of hypomyelinating leukodystrophy as PMD among infants.

Objectives: To review clinical characteristics and response to immunomodulation therapy in autoimmune encephalitis presenting with status epilepticus (SE), epilepsy, and cognitive decline. Design: Observational, prospective case series. Setting: All India Institute of Medical Sciences, New Delhi, India. Materials and Methods: Prospective analysis of 15 patients, who presented with SE, epilepsy, cognitive decline, and other neurological symptoms with positive autoantibodies. Demographic and clinical characteristics were recorded. Brain magnetic resonance imaging (MRI), cerebrospinal-fluid analysis (CSF), and tumor screening were done periodically. Treatment received and responses (categorized as per patients and treating doctor's information) were noted. Results: There were 15 (males = 10) patients of autoimmune encephalitis. The mean age of presentation was 24 years (range: 2-64 years). The most common onset was subacute (64%) and four (29%) patients presented as SE. Predominant clinical presentations were seizures (100%) almost of every semiology. CSF was done in 10 patients; it was normal in 60%. Brain MRI was done in all patients, in six (40%) it was normal, six (40%) showed T2W and FLAIR hyperintensities in bilateral limbic areas. Antibodies found were the N-methyl-D-aspartate receptor antibody in seven (50%), voltage-gated potassium channel antibody in five (36%), two of antiglutamic acid decarboxylase, and one patient with double stranded DNA (dsDNA) antibodies. None showed evidence of malignancy. Patients received immunotherapy, either steroids, intravenous immunoglobulin, or both. Follow-up showed significant improvement in majority of cases, neither further seizures nor relapse in nine (67%) cases. One death occurred, due to delayed presentation. Conclusions: Uncommon but potentially reversible causes of SE, epilepsy, and cognitive decline may be immune-related and high index of suspicion will prevent missing the diagnosis. [ABSTRACT FROM AUTHOR]

The article presents a case study related to 9‑year‑old boy presented with bilateral lower‑motor‑neuron facial‑palsy, progressive hearing‑loss, and radiating‑pains in legs for 2 months. Topics include neuroimaging revealed bilateral VII and VIII cranial‑nerve enhancement with arachnoiditis, the cerebrospinal fluid (CSF) was meningitic, the CSF serology was positive for Lymes disease, and the child received ceftriaxone and methylprednisolone pulse for arachnoiditis with marginal improvement.

Headache is infrequent in early childhood. Headache and neurological deficits associated with cerebrospinal fluid (CSF) lymphocytosis (HaNDL), a variant of migraine, is a rare disorder. A 5-year-old boy presented with recurrent episodes of headache for 6 months. Each episode lasted for a week and in the current episode, he was symptomatic for 3 days. All the episodes were associated with paresthesias and CSF lymplocytosis with normal protein and sugar. There was history of migraine in his family. His magnetic resonance imaging (MRI) brain with contrast with magnetic resonance (MR) angiography and venography were normal. Work-up for relevant causes of infection and vasculitis were negative. His symptoms subsided on oral antimigraine prophylaxis and he has been on remission for last 8 months. HaNDL should be considered in relevant clinical scenarios, as it prevents unnecessary investigations, therapy, and hospitalization. [ABSTRACT FROM AUTHOR]

The article discusses the cases of a 5-year old and 11-year-old boys with severe protracted Guillain–Barre syndrome (GBS). The patients responded to several doses of intravenous immunoglobulin (IVG) and their conditions had improved. Other topics include the clinical symptoms, severity, prognosis and supportive therapy and immunotherapy management of GBS.