Positive Myelin Oligodendrocyte Glycoprotein Antibodies in Isolated Optic Neuritis in a 14-Year-Old Child.

Optic neuritis (ON) is a rare condition in the pediatric age group. Patients with optic neuritis can manifest with a wide range of drops in vision, ranging from mild loss to complete loss of vision. Knowing the cause of optic neuritis is an important point that will affect management and prognosis.

Infantile Status Epilepticus: A Case of Excessive Water Intake in a Five-Month-Old Girl.

Hyponatremia in children, especially in normal infants below the age of six months, is a common cause of the first onset of afebrile convulsions, which can be rarely associated with water intoxication and can lead to a state of encephalopathy and status epilepticus if not diagnosed and managed properly early. Water intoxication is an uncommon but potentially lethal cause of hyponatremia. We report a five-month-old girl who presented to our hospital with status epilepticus, facial puffiness, cyanosis, and severe hyponatremia secondary to water intoxication.

Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7.

Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition.

A Young Girl with Acute Encephalopathy Who Presented with Status Epilepticus Following a Flu-Like Illness.

BACKGROUND Acute necrotizing encephalopathy of childhood (ANEC) is a rare form of acute encephalopathy in children that is characterized by rapid and progressive deterioration in the patient's clinical condition. Our aim in reporting the case is to highlight the importance of early diagnoses and aggressive early management of ANEC to achieve a better outcome. We report the case of a 5-year-old girl who presented with acute progressive encephalopathy with bilateral symmetrical thalamic involvement and brainstem lesion proceeded by a flu-like illness.

Unusual Presentation of Epstein-Barr Virus-Associated Cholestatic Hepatitis in an Infant.

Epstein-Barr virus (EBV) infections are prevalent in the pediatric population but are subclinical in the majority of cases. Elevated transaminases in the acute setting rarely increase beyond 5 times the normal upper limit. We present a girl aged 1 y with fever, vomiting, and diarrhea.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Objective: To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.

Methods: Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings.

Results: CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (), which encodes a vesicular membrane fusion protein.

Neuropsychiatric symptoms following sore throat in a young boy.

A previously healthy 6-year-old boy was referred to us by his primary provider, with a history of sudden onset behavioural abnormalities including irritability, sleep disturbance and anxiety. Physical examination revealed no significant findings; further analyses were not suggestive of meningitis, encephalitis, metabolic abnormalities, toxicity or any other obvious cause. On rechecking the patient's history, an episode of throat pain 1 week prior to the symptom onset was noted.

A brain populated with space-occupying lesions: identifying the culprit.

This is a case of an 8-year-old girl who was previously healthy and presented with unresponsiveness on a background of fever that resolved within 2 days of onset. History was significant for recurrent dental abscesses requiring drainage. Imaging revealed what was unexpected: a brain overloaded with multiple space-occupying lesions and diffuse oedema.