Differential Diagnosis, investigation and treatment

Laboratory investigations revealed elevated total leukocyte count (17,400/mm³), with neutrophilia (59%) and anemia (hemoglobin 8.8 g/dL). Biochemical parameters were largely normal, except for low Vitamin D levels (13.1 ng/mL, normal range 30–50 ng/mL) and an elevated C-reactive protein (CRP) of 142 mg/L (normal range: 0–6 mg/L), indicating systemic inflammation. Screening for metabolic disorders, including the Watson-Schwartz, Benedict’s, and ferric chloride tests, was negative ruling out metabolic causes of epilepsy. Electroencephalogram (EEG) findings were normal, ruling out non-convulsive status epilepticus. (Table 1) Neuroimaging was pivotal in establishing diagnosis. Initial computed tomography (CT) scan of the head revealed diffuse hypodensity in the cerebellum with loss of differentiation of grey and white matter and periventricular trans ependymal seepage, consistent with a global cerebellar infarction. (Figure 1 and 2) Magnetic resonance imaging (MRI) with angiography (MRA) and venography (MRV) identified congenital vascular anomalies, including hypoplasia of the right anterior cerebral artery (A1 segment) and attenuated right vertebral artery. (Figure 3, 4 and 5) MRV findings were unremarkable, ruling out venous thrombosis. However, genetic testing could not be pursued due to the family’s financial constraints. Management initially focused on controlling the seizures and addressing the metabolic derangements. The child was started on levetiracetam, phenytoin, and midazolam to control seizures, followed by a micronutrient “cocktail therapy” with intravenous phenytoin (20 mg twice daily at 8 mg/kg/day) and levetiracetam (200 mg twice daily at 30 mg/kg/dose). Once the seizures were controlled, oral levetiracetam was continued at a dose of 200 mg twice daily for maintenance therapy. Additional supportive treatments included riboflavin (700 mg daily), pyridoxine (500 mg daily), folic acid (20 mg daily), calcium (4 mL twice daily), biotin (10 mg daily), thiamine (200 mg daily), vitamin C (four times daily), L-carnitine (2 mL twice daily), and coenzyme Q (30 mg daily).