Macrocephaly is defined as a head circumference greater than two standard deviations above the mean for age and sex and represents a relatively frequent finding in pediatric practice [1-3]. Its reported prevalence reaches up to 5% of the pediatric population and it is commonly identified during routine well-child visits through systematic anthropometric evaluation [1,2,4]. Although macrocephaly may be associated with benign conditions, such as familial macrocephaly, it may also represent an early and critical indicator of underlying intracranial pathology, particularly when accompanied by progressive neurological symptoms [2-5].

Tumors of the central nervous system are the second most common malignancy in children aged 0–14 years and constitute a significant cause of pediatric morbidity and mortality [6]. Their clinical presentation varies according to tumor location, growth rate, and patient age, often resulting in delayed diagnosis due to nonspecific or slowly progressive symptoms [6]. In this context, routine pediatric surveillance plays a fundamental role, as systematic measurement of head circumference allows early detection of abnormal cranial growth and potential intracranial hypertension [4,7].

Low-grade gliomas, particularly astrocytomas, are among the most frequently diagnosed brain tumors in early childhood [6,8]. These tumors are characterized by slow growth and an indolent clinical course, leading to progressive neurological deterioration rather than acute symptom onset [8]. The present case highlights macrocephaly as an unequivocal neurological warning sign and emphasizes the importance of early clinical suspicion and timely neuroimaging to improve outcomes in pediatric patients with intracranial tumors [4,6].

This study corresponds to a descriptive case report of a pediatric patient evaluated in an emergency department setting and subsequently managed by a multidisciplinary medical team. Clinical assessment included a detailed medical history obtained from the patient’s caregiver and a comprehensive physical and neurological examination. Anthropometric measurements were performed, with particular emphasis on head circumference as part of the neurological evaluation [4,7].

Given the presence of progressive neurological symptoms and signs suggestive of increased intracranial pressure, neuroimaging was performed using cranial computed tomography (CT), both plain and contrast enhanced, as an initial diagnostic modality [1-3,9]. This approach was selected due to its rapid acquisition, availability, and diagnostic utility in the context of suspected intracranial structural pathology [1-3,9].

Following imaging findings compatible with a space occupying intracranial lesion, the patient was evaluated by pediatric oncology and pediatric neurosurgery services. Surgical management consisted of complete tumor resection with placement of a ventriculoperitoneal shunt. The resected specimen was submitted for histopathological examination to establish a definitive diagnosis. Postoperative evolution was monitored during hospitalization and through subsequent outpatient follow-up.

A 2-year-4-month-old male patient with no history of routine well-child follow-up was evaluated after presenting with 24 hours of projectile vomiting and feeding intolerance. Fourteen days prior to admission, the patient had sustained a fall from his own height, resulting in trauma to the right forearm that was managed symptomatically. In the weeks preceding admission, the caregiver reported a progressive decline in the patient’s general condition, characterized by hyporexia, asthenia, adynamia, and anhedonia lasting approximately four weeks. Additionally, frequent falls and refusal to walk were noted, with two and one weeks of evolution, respectively.

On physical examination, the patient was tachycardic and showed signs of moderate dehydration. Neurological assessment revealed macrocephaly with a head circumference of 52 cm, persistence of the anterior fontanelle without bulging, and cranial suture diastasis. Focal neurological deficits were evident, including central facial palsy, left-sided hemiparesis, bilateral positive Babinski sign, and a wide-based gait. These findings were consistent with progressive neurological compromise and suggested the presence of increased intracranial pressure [1,3,6].

Cranial CT imaging demonstrated an enlarged cranial perimeter and a large intracranial cystic lesion associated with perilesional edema and deviation of midline structures (Figure 1.). These findings supported the diagnosis of a space-occupying lesion of the central nervous system, consistent with previously described imaging features of intracranial tumors in pediatric patients [1-3,9].

The patient underwent complete surgical resection of the lesion with placement of a ventriculoperitoneal shunt. The postoperative course was favorable, with no reported complications. Histopathological examination confirmed a low-grade astrocytoma, classified as a World Health Organization grade I tumor [6,8]. Given the tumor characteristics, complementary oncological treatment with chemotherapy and radiotherapy was initiated, consistent with reported management strategies for selected cases [8,10].

At follow-up, the patient remains free of tumoral disease and continues under outpatient surveillance without neurological sequelae. This favorable evolution aligns with previous reports demonstrating improved survival and outcomes in pediatric patients undergoing complete tumor resection [10].

Macrocephaly in this case served as a critical clinical indicator of underlying intracranial pathology. Low-grade astrocytomas are characterized by slow progression, which may delay diagnosis, particularly in children lacking routine pediatric surveillance [6,8]. Early neuroimaging is therefore essential when macrocephaly is associated with focal neurological deficits or signs of intracranial hypertension [1-5,9].

Figure 1: Cranial CT showing cystic intracranial lesion with midline shift.

(a) Sagittal non-contrast CT showing a cystic lesion affecting the right hemisphere.

(b) Axial non-contrast CT demonstrating ventricular compression.

(c) Contrast-enhanced axial CT revealing perilesional edema and midline deviation.

Macrocephaly should be regarded as a significant neurological warning sign, particularly when accompanied by progressive neurological symptoms. This case underscores the importance of routine well-child follow-up, including systematic measurement of head circumference, as a fundamental component of pediatric care for early detection of intracranial pathology [4,7]. Although diagnosis in this patient was delayed due to the absence of regular pediatric surveillance, timely multidisciplinary management resulted in a favorable outcome. Early recognition and prompt intervention remain essential to improving prognosis in pediatric patients with tumors of the central nervous system [6].

The authors declare that there are no acknowledgments.

Funding Information

The authors received no specific funding for this work.

Ethical Approval

This study was conducted in accordance with the principles of the Declaration of Helsinki. Ethical approval was not required for this case report according to institutional policies.

Patient Consent

Written informed consent was obtained from the patient’s legal guardian for publication of this case report and accompanying images.

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