[A neonate with a swelling in the floor of the mouth]. / Een pasgeborene met een zwelling in de mondbodem.

A significant swelling was seen in the floor of the mouth of a newborn girl. The girl could only drink with difficulty. On examination, a soft-elastic swelling was seen beneath the tongue. Ultrasonography and MRI showed a mass located above the hyoid bone. Upon the initial differential diagnosis of a dermoid cyst, an enucleation of the lesion was performed. Histopathological examination suggested a branchiogenic cyst or a digestive duplication cyst. Given the inconclusiveness of additional diagnostic examination, the lesion was diagnosed as a developmental cyst. Six months after enucleation, the infant girl's tongue motility was not restricted and there were no indications of a recurrence. This rare case illustrates the variety in differential diagnosis and the limitations of additional diagnostic examination.

Heat shock protein expression in cerebral X-linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss.

AIMS: X-linked adrenoleukodystrophy (X-ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long-chain fatty acids. Inflammation in the brain white matter is a hallmark of the pathology of cerebral X-ALD, but the underlying pathogenic mechanisms are still largely unknown. In other inflammatory demyelinating disorders, such as multiple sclerosis, the expression of heat shock proteins (HSPs) in combination with interferon-γ (IFN-γ) has been suggested to play a prominent role in the initiation of demyelination and inflammation. We therefore investigated these pathways in X-ALD lesions. METHODS: By immunohistochemistry, we examined the expression of small HSPs (HSPB1, HSPB5, HSPB6, HSPB8) and higher molecular weight HSPs (HSPA, HSPD1), and the expression of elements of the IFN-γ pathway on autopsy material of five patients with X-ALD. RESULTS: The expression of the larger HSPs, HSPA and HSPD1, as well as small HSPs is increased in X-ALD lesions compared with normal-appearing white matter. Such upregulation can already be detected before demyelination and inflammation occur, and it is predominant in astrocytes. The IFN-γ pathway does not seem to play a leading role in the observed inflammation. CONCLUSIONS: The finding that astrocytes show signs of cellular stress before demyelination suggests that they play a major role early in the pathogenesis of cerebral X-ALD, and may therefore be involved in the initiation of inflammation and demyelination.