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).