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.