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Gorham's disease of skull base and cervical spine--confusing picture in a two year old
H R S Girn1, G Towns, P Chumas
1Department of Neurosurgery, Leeds General Infirmary, Great George Street, Leeds. hrsgrin@aol.com
Insights
Gorham's disease, a rare bone disorder, presented unusually in a two-year-old, mimicking increased intracranial pressure. This case highlights diagnostic challenges and treatment limitations in pediatric skull base involvement.
Area of Science:
- Pediatric Radiology
- Pediatric Neurosurgery
- Rare Bone Diseases
Background:
- Gorham's disease (vanishing bone disease) is a rare, progressive disorder characterized by the replacement of bone with vascular tissue.
- Skull base and cervical spine involvement in Gorham's disease is uncommon, especially in pediatric populations.
- Radiological findings can be nonspecific, complicating differential diagnosis in young children.
Observation:
- A two-year-old female presented with radiological signs suggestive of raised intracranial pressure, later diagnosed as Gorham's disease affecting the skull base and cervical spine.
- Differential diagnoses included skull base tumors, meningitis, osteomyelitis, hydrocephalus, and congenital syndromes.
- Pathological differentiation from bone lymphangioma proved challenging.
Findings:
- The case highlights the diagnostic difficulties in pediatric Gorham's disease, particularly when presenting with atypical radiological features.
- Radiotherapy and pamidronate therapy were ineffective in arresting disease progression.
- Surgical intervention failed to provide stabilization, underscoring limited treatment options.
Implications:
- This report describes the youngest known pediatric case of Gorham's disease, expanding the understanding of its early-onset presentation.
- The case emphasizes the need for a broad differential diagnosis in pediatric skull base lesions with unusual radiological findings.
- It underscores the significant challenges in managing pediatric Gorham's disease, necessitating further research into effective therapeutic strategies.
Abstract:
The unusual presentation of Gorham's disease of skull base and cervical spine in a two-year-old female child with radiological signs mimicking those of raised intracranial pressure is discussed. The differential diagnosis consists of skull base tumours, meningitis, osteomyelitis of the base of skull, congenital hydrocephalaus and congenital syndromes involving the skull base. Pathologically it can be very difficult to differentiate it from lymphangioma of the bone. Difficulty in establishing the diagnosis is discussed along with failure of radiotherapy and palmidronate therapy to cause arrest of the disease process and failure of surgery to provide stabilisation. We describe the course of the disease in this child over the period of last eight years. To the best of our knowledge this is the youngest case of Gorham's described so far.
