Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients.

OBJECTIVE: Head and neck paragangliomas (HNPGL) are associated with mutations in genes encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate SDH mutations, family history and phenotypes of patients with HNPGL in the Netherlands. DESIGN: We evaluated the clinical data and the mutation status of 236 patients referred between 1950 and 2009 to Leiden University Medical Center. RESULTS: The large majority of the patients carried mutations in SDHD (83%), and the p.Asp92Tyr Dutch founder mutation in SDHD alone accounted for 72% of all patients with HNPGL. A mutation in SDHAF2 was found in 4%, mutations in SDHB in 3% and a mutation in SDHC was identified in a single patient (0·4%). Over 80% of patients presented with positive family history, of whom 99·5% carried a mutation in an SDH gene. SDH mutations were also found in 56% of isolated patients, chiefly in SDHD (46%), but also in SDHB (8%) and SDHC (2%). The clinical parameters of these different subgroups are discussed: including the age at diagnosis, associated pheochromocytomas, tumour multifocality and malignancy rate. CONCLUSION: The majority of Dutch patients with HNPGL present with a positive family history, in contrast to other European countries. The clinical characteristics of patients with HNPGL are chiefly determined by founder mutations in SDHD, the major causative gene in both familial and isolated patients with HNPGL. The high frequency of founder mutations in SDHD suggests a higher absolute prevalence of paraganglioma syndrome in the Netherlands.

Paediatric hypopharyngeal perforation: child abuse until proved otherwise?

A case of paediatric hypopharyngeal perforation in a 7-month-old infant is reported. The diagnosis was delayed because it was not considered. It later transpired that the injury had been inflicted by one of the child's parents. Criminal proceedings were successfully brought against both parents and the child and his siblings were taken into foster care. A review of the available literature on paediatric hypopharyngeal perforation, excluding iatrogenic and external trauma mechanisms of injury suggests that non-accidental injury is by far the most common aetiology. Suspected child abuse remains one of the most sensitive and challenging areas in medicine. Awareness that non-iatrogenic paediatric hypopharyngeal perforation in the absence of external trauma is highly suggestive of a non-accidental injury is critical, and may save a child from subsequent abuse.

Is a "vanishing tumor" always a lymphoma?

The authors report clinical and radiologic characteristics and ultimate diagnosis in 12 patients with a regressing cerebral mass lesion. Primary CNS lymphoma (PCNL) was found in only half of the patients with such a lesion. In patients showing a complete resolution of the enhancing lesion the probability of finding a PCNL is smaller and survival is longer.