Discussion

Cerebellar infarction in infants is a rare but serious condition with potential long-term consequences. It can occur in both preterm and term infants, with various etiologies including hypoxic-ischemic events and migraine complications [2]. Cerebellar infarction is uncommon in infants and is rarely associated with status epilepticus as a presenting symptom. The patient’s clinical history, including perinatal complications, recurrent infections, and a significant family history of seizures, adds a unique dimension to this case. Notably, the history of consanguineous marriage and a family history of seizures in the uncle suggest a possible genetic predisposition that could not be confirmed due to financial constraints. Initial differentials included febrile seizures, metabolic or mitochondrial disorders, and structural abnormalities. Febrile seizures were unlikely due to the absence of fever at presentation and the prolonged seizure duration [6]. Negative metabolic tests ruled out major metabolic disorders, although low Vitamin D and elevated CRP suggested possible inflammatory or nutritional contributions [7]. Neuroimaging, particularly MRI, plays a crucial role in detecting cerebellar infarcts due to their often subtle or atypical clinical presentation and the low sensitivity of CT scans. Posterior fossa subtle hypodensity can be missed in non-contrast CT because of the beam-hardening artifact from the temporal bones. Thus, MRI detect infarctions within the first 24 hours and provide superior anatomical detail without bony artifacts. MRI can also reveal small cerebellar infarcts occurring in typical spatial patterns [8]. In this case, CT of head was done and showed diffuse hypodensity of cerebellum with loss of grey-white differentiation likely due to global subacute cerebellar infarct and MRA and MRV showed right A1 anterior cerebral artery hypoplasia, attenuated right vertebral artery. The neuroimaging findings of right A1 anterior cerebral artery hypoplasia and attenuated right vertebral artery indicate congenital vascular anomalies as probable contributors to the cerebellar infarction. Studies have shown that vascular anomalies, combined with perinatal hypoxia, can predispose infants to ischemic injury. Elevated CRP levels further suggest a proinflammatory or prothrombotic state, which may exacerbate vascular vulnerability [9]. The management strategy focused on seizure control, stabilization of metabolic derangements, and supportive care. Intubation and mechanical ventilation in severe metabolic acidosis present significant challenges. While traditionally discouraged due to concerns about compromising compensatory hyperventilation, intubation may be necessary in cases of altered consciousness or refractory seizures [12, 13]. In cases of severe, refractory acidosis with multiple contributing factors, additional interventions such as sodium bicarbonate administration may be considered alongside intubation. The decision to intubate and ventilate in severe metabolic acidosis should be personalized, weighing individual risks and benefits [13]. For status epilepticus, phenytoin and phenobarbital are widely used, but valproic acid and levetiracetam are emerging as safe and effective alternatives [10]. Recent randomized controlled trials show equal efficacy for parenteral phenytoin, levetiracetam, and valproic acid as second-line agents [11]. In this case, the patient was initially managed with intravenous (IV) Phenytoin and Levetiracetam. Once the abnormal body movements were controlled, the treatment was transitioned to oral Levetiracetam. This case highlights the importance of thorough investigation in infants presenting with status epilepticus, particularly in the context of family history and atypical clinical features. Early neuroimaging is indispensable for identifying structural etiologies like cerebellar infarction, which may be overlooked in the differential diagnosis of seizures. Genetic counseling and targeted diagnostic testing should be considered in similar cases, particularly where there is consanguinity or a family history of neurological conditions. The primary limitation of this case was the unavailability of genetic testing and advanced metabolic assays, which could have provided a more definitive diagnosis. Despite the limitations, this case report emphasizes the importance of considering rare structural causes in infants presenting with status epilepticus and highlights the utility of neuroimaging in resource-limited settings. In the future, advancements in genetic testing and metabolic profiling could aid in the early identification of at-risk populations, particularly in consanguineous families. Furthermore, this case underscores the need for enhanced awareness and capacity-building efforts to integrate advanced diagnostic and therapeutic modalities in pediatric neurology. Long-term follow-up studies would also provide crucial insights into the prognosis and efficacy of tailored management strategies in similar cases.