Background <p>Brainstem gliomas rarely occur during infancy and typically present without the classic neurological signs seen in older children. Instead, affected infants develop nonspecific symptoms, recurrent pneumonia, dysphagia, and feeding difficulties that closely mimic common pediatric conditions, leading to diagnostic delay. We report two infants with brainstem tumors whose initial presentations were attributed entirely to respiratory or gastrointestinal disease.</p> Case presentations <p>Case 1 was a 7-month-old girl with progressive dysphagia, recurrent respiratory infections, a weak cough, and motor regression. Cranial MRI identified a right medullary mass; diffusion-weighted imaging (DWI) demonstrated restricted diffusion consistent with high cellularity, supporting a high-grade glial pathology without tissue biopsy. Case 2 was an 8-month-old boy treated for months under presumptive diagnoses of gastroesophageal reflux and recurrent pneumonia. Cranial MRI revealed a large cystic-solid mass in the brainstem-cerebellar region with obstructive hydrocephalus. As no biopsy was obtained, the diagnosis rested on imaging: the mass was heterogeneous with extension into the cerebellar vermis and signal characteristics on T1, T2, and DWI consistent with a glial neoplasm. Loss of previously attained head control identified on parental history constituted developmental regression, the critical diagnostic red flag.</p> Conclusions <p>Brainstem tumors should be considered a rare differential diagnosis in infants with unexplained, refractory feeding difficulties and recurrent pneumonia, particularly when neurological abnormalities or motor regression are present, after more common etiologies have been excluded. Early MRI is essential. When tissue biopsy is not feasible, the radiological basis of the diagnosis must be explicitly acknowledged and serial imaging follow-up is mandatory.</p>

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Infantile brainstem tumors presenting with recurrent pneumonia and dysphagia: a report of two cases and literature review

  • Wei Wang,
  • Yang Huang,
  • Wenhua Deng,
  • Yabin Wu

摘要

Background

Brainstem gliomas rarely occur during infancy and typically present without the classic neurological signs seen in older children. Instead, affected infants develop nonspecific symptoms, recurrent pneumonia, dysphagia, and feeding difficulties that closely mimic common pediatric conditions, leading to diagnostic delay. We report two infants with brainstem tumors whose initial presentations were attributed entirely to respiratory or gastrointestinal disease.

Case presentations

Case 1 was a 7-month-old girl with progressive dysphagia, recurrent respiratory infections, a weak cough, and motor regression. Cranial MRI identified a right medullary mass; diffusion-weighted imaging (DWI) demonstrated restricted diffusion consistent with high cellularity, supporting a high-grade glial pathology without tissue biopsy. Case 2 was an 8-month-old boy treated for months under presumptive diagnoses of gastroesophageal reflux and recurrent pneumonia. Cranial MRI revealed a large cystic-solid mass in the brainstem-cerebellar region with obstructive hydrocephalus. As no biopsy was obtained, the diagnosis rested on imaging: the mass was heterogeneous with extension into the cerebellar vermis and signal characteristics on T1, T2, and DWI consistent with a glial neoplasm. Loss of previously attained head control identified on parental history constituted developmental regression, the critical diagnostic red flag.

Conclusions

Brainstem tumors should be considered a rare differential diagnosis in infants with unexplained, refractory feeding difficulties and recurrent pneumonia, particularly when neurological abnormalities or motor regression are present, after more common etiologies have been excluded. Early MRI is essential. When tissue biopsy is not feasible, the radiological basis of the diagnosis must be explicitly acknowledged and serial imaging follow-up is mandatory.