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Objective Our objective was to describe the clinicodemographic, laboratory, and outcome profiles of a rare phenotype of pediatric acute encephalitis syndrome (AES) with acute fulminant cerebral edema (AFCE) and compare them with that of AES without AFCE.Methods We retrospectively analyzed medical records of a cluster of children hospitalized with encephalitis between June 1, 2021 and December 31, 2021. Their clinical and demographic features, laboratory investigations (hematological, biochemical, serological, microbiological, radiological, and electrophysiological tests), and follow-up data up to 3 months postdischarge were recorded. Patients with AFCE and those without it were divided into groups A and B, respectively, and their characteristics were compared.Results There were 11 and 15 patients in groups A and B, respectively. There were no significant differences between the two groups in terms of sex, neurological status at admission, hematological and cerebrospinal fluid values, pediatric intensive care unit (PICU) course, and management, etiological identification, and mortality and disabilities at discharge. Patients having reversal or having white cerebellar signs did not significantly differ in their outcomes. However, the patients in group A had significantly lower age, higher incidence of abnormal findings on head computed tomography scans at admission, longer duration of hospitalization, and neurological sequelae at 3 months. The numbers of patients with identified etiologies were zero in group A but five in group B (two Japanese encephalitis, two scrub typhus, and one dengue). Patients of group A had bilateral asymmetric temporal-parieto-occipital T2 hyperintense lesions in magnetic resonance imaging, whereas patients of group B had bifrontal predominant or thalamo-mesencephalic lesions. Multifocal epileptiform discharges were seen in electroencephalogram in both groups, which reverted to normal in 9 and 46% in groups A and B at 3 months, respectively.Conclusion Younger age is a significant risk factor for the development of AFCE in pediatric AES. AFCE patients have worse outcomes at 3 months, although they do not significantly differ from their non-AFCE counterparts at discharge. When occurring in clusters, AFCE patients exhibit the same radiological and electroencephalographic features.

A 2.5-year-old girl child patient with moderate malnutrition presented with right forehead abscess followed by ipsilateral orbital cellulitis. She also developed a left hydropneumothorax within a week. Subsequently she had left focal onset seizures with secondary generalized status epilepticus followed by development of left hemiparesis. Neuroimaging showed infarcts of varying ages in the right cerebral hemisphere and basal ganglia. Angiography revealed right internal carotid artery pseudoaneurysm. Blood and pus cultures grew methicillin-resistant Staphylococcus aureus (MRSA). Investigations for immunodeficiency were negative. The patient received vancomycin intravenously for 6 weeks and intercostal tube drainage for hydropneumothorax. She was discharged with an antiepileptic drug and aspirin. There was complete resolution of the orbital cellulitis and hydropneumothorax and also the pseudoaneurysm on follow-up angiography 3 months later.

A 2.5-month-old infant with global developmental delay, initially had generalized tonic spasms followed by appearance of infantile spasms from 4.5 months of age. Thus, he had evolution from early infantile developmental and epileptic encephalopathy (EIDEE) to infantile epileptic spasm syndrome (IESS). Neuroimaging and screening of inborn errors of metabolism were normal, but sleep electroencephalogram showed suppression-burst pattern. Treatment with intramuscular injections of adrenocorticotropic hormone (ACTH) was associated with significant control of infantile spasms, but was followed by development of right hemichoreiform movements 2 days later. Upon continuing ACTH treatment, the dyskinesia generalized, prompting us to stop it and shift to vigabatrin which resulted in partial control of his spasms. Whole-exome sequencing revealed an autosomal dominant heterozygous variation of uncertain significance in the NPRL3 gene. At 6 months of age, he suffered of a probable sudden unexpected death, without any notable illness. The case is unique because both the phenomena—ACTH-induced dyskinesia and probable sudden unexpected death in infancy—are rarely described in the EIDEE-IESS continuum.

A 9-year-old girl presented with asymmetric abnormal twisting movements affecting her left side more than the right side, initially action induced, but later persistent. Examination revealed generalized persistent dystonia with choreoathetosis and right partial tonic ocular tilt reaction. Brain magnetic resonance imaging showed T1 and T2 fluid-attenuated inversion recovery (FLAIR) hypointense and T2 hyperintense signal changes in bilateral globus pallidi. Clinical exome sequencing revealed compound heterozygous variatnts in enoyl-CoA hydratase-1 (ECHS1) gene: a novel pathogenic variant in exon 6, chr10:g.133366045G > A (p.Gln224Ter) and a likely pathogenic variant in exon 5, chr10:g.133366990G > A (p.Ala173Val). Metabolic testing and arterial lactate levels were normal. She was treated with valine restricted diet, trihexiphenidyl, clonazepam, N-acetyl cysteine and mitochondrial cocktail, without significant improvement over the 6 months follow-up period.

Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of embryonic prosencephalon into diencephalon and telencephalon. De Meyer classified three ranges in order of in- creasing severity: lobar, semilobar and alobar HPE. A subtype called middle inter-hemispheric fissure variant has also been described. Arnold-Chiari III malformation is extremely rare and comprises of occipital encephalocele and associated cerebellar and brain stem abnormalities. This case report presents a male infant with lobar HPE and Arnold-Chiari III malformation without any facial defects and chromosomal abnormalities.

Chronic inflammatory demyelinating polyneuropathy is an immune mediated disorder of more than 2 mo duration. A 5-year-old male child presented with subacute onset of ascending weakness, hyporeflexia and respiratory insufficiency requiring mechanical ventilation. He had suffered from an exactly similar episode 1 yr back. Cerebrospinal fluid showed albuminocytological dissociation. Nerve conduction velocity study showed combined demyelinating and axonal type of polyradiculoneuropathy. Sural nerve biopsy revealed demyelination and axonal degeneration. The child responded well to intravenous immunoglobulin in the acute phase and prednisolone was used to maintain the child in remission.

We report an unusual case of a 4-year-old girl presenting with recurrent episodes of weakness with documented hypokalemia, failure to thrive, and rachitic changes. Nerve conduction study during the episode of weakness revealed reduced compound muscle action potential amplitudes and motor conduction velocity and electromyography revealed reduced interference pattern, which normalized on correction of hypokalemia and subsequent recovery of weakness. The child was diagnosed with distal renal tubular acidosis. Ultrasound revealed medullary nephrocalcinosis, which regressed on long-term treatment with alkali and potassium supplement.