The management of bifocal intracranial germinoma in children.

OBJECTIVES: Bifocal intracranial germinoma (BFG) is a tumour of the pineal and suprasellar regions, which is known to be highly radiosensitive. The definitive treatment and outcomes are not well defined, particularly in the paediatric population. We review our series of purely paediatric cases from a single institution and combine them with the limited reports in the literature to determine the results of different management strategies. METHODS: Four patients were treated at our institution with a median age of 15.3 years. A literature search identified a further 38 paediatric cases with a median age of 12.9 years. RESULTS: All four patients had normal serum and CSF tumour markers. One patient had a diagnosis made based on imaging findings of bifocal pineal and suprasellar lesions presenting with diabetes insipidus. Three others underwent biopsy. All had craniospinal radiotherapy, which has led to complete cure with no cases of progression at a mean follow-up of 3 years. The most common treatment modality in published cases is craniospinal irradiation. In the cases reviewed, limited radiation treatments (whole ventricle or focal) combined with chemotherapy regimens yield comparable outcomes where there is no spinal dissemination. Outcomes do not appear to be altered by biopsy in cases with negative tumour markers and characteristic imaging appearances. CONCLUSION: Patients who present with a classic appearance of germinoma, negative tumour markers and diabetes insipidus probably do not require a biopsy to confirm the diagnosis. No evidence of dissemination may obviate the need for craniospinal irradiation, but good quality long-term follow-up data are required to demonstrate the benefits of combined focal radiotherapy and chemotherapy regimes.

Alkaptonuria presenting with ochronotic spondyloarthropathy.

Alkaptonuria is a rare autosomal recessive metabolic disease that leads to the deposition of homogentisic acid. Ochronotic arthropathy is the articular manifestation of alkaptonuria with the most common clinical feature being severe spondyloarthropathy. We present the case of a 58-year-old woman with back pain. Radiographs and magnetic resonance imaging (MRI) revealed characteristic features of ochronotic spondyloarthropathy. The literature regarding management of alkaptonuria is reviewed.