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Late-Onset Langerhans Cell Histiocytosis with Cerebellar Ataxia as an Initial Symptom

View Article: PubMed Central - PubMed

ABSTRACT

Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As ‘idiopathic cerebellar ataxia’ was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed. All results were normal except those of MRI, performed 9 months prior to admission, which showed multiple dot-like white matter lesions with unclear cause. On a repeated brain MRI, a new lesion presenting as a 1.5-cm-sized highly enhancing mass attached to the right frontal skull was found. A sharply marginated lytic skull defect was also evident on skull X-ray, which corresponded to the lesion mass. Given these new radiological findings, a systemic review of the patient's medical history for rare secondary causes of cerebellar ataxia was performed, with particular attention to her past ‘diabetes insipidus’. The mass, lytic lesion of the skull, white matter lesion, diabetes insipidus, and cerebellar ataxia all suggested a final diagnosis of Langerhans cell histiocytosis (LCH), which was confirmed histopathologically. This is a rare case of late-onset LCH with an unusual initial symptom which underlines the importance of carefully reviewing the patient's medical history and broadening the search for etiologies beyond the nervous system.

No MeSH data available.


Related in: MedlinePlus

a Cerebellar atrophy (thick arrow) and pituitary stalk thickening (thin arrow). b Dot-like white matter changes (arrows). c MRI image 9 months after the previous MRI shows a new mass lesion on the right frontal skull (arrow) corresponding to an osteolytic lesion in the right frontal skull (d).
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Figure 1: a Cerebellar atrophy (thick arrow) and pituitary stalk thickening (thin arrow). b Dot-like white matter changes (arrows). c MRI image 9 months after the previous MRI shows a new mass lesion on the right frontal skull (arrow) corresponding to an osteolytic lesion in the right frontal skull (d).

Mentions: Magnetic resonance imaging (MRI) of the patient's brain performed in another hospital 9 months prior to admission to our clinic showed cerebellar atrophy with pituitary stalk thickening (fig 1a) and dot-like white matter changes in both hemispheres (fig 1b). Repeated brain MRI scans in our hospital showed no interval changes of the finding described above. However, one new lesion presenting as a 1.5-cm-sized highly enhancing mass attached to the right frontal skull was found (fig 1c). The mass corresponded to a sharply marginated lytic skull defect in the right frontal bone on the skull X-ray (fig 1d).


Late-Onset Langerhans Cell Histiocytosis with Cerebellar Ataxia as an Initial Symptom
a Cerebellar atrophy (thick arrow) and pituitary stalk thickening (thin arrow). b Dot-like white matter changes (arrows). c MRI image 9 months after the previous MRI shows a new mass lesion on the right frontal skull (arrow) corresponding to an osteolytic lesion in the right frontal skull (d).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC5121570&req=5

Figure 1: a Cerebellar atrophy (thick arrow) and pituitary stalk thickening (thin arrow). b Dot-like white matter changes (arrows). c MRI image 9 months after the previous MRI shows a new mass lesion on the right frontal skull (arrow) corresponding to an osteolytic lesion in the right frontal skull (d).
Mentions: Magnetic resonance imaging (MRI) of the patient's brain performed in another hospital 9 months prior to admission to our clinic showed cerebellar atrophy with pituitary stalk thickening (fig 1a) and dot-like white matter changes in both hemispheres (fig 1b). Repeated brain MRI scans in our hospital showed no interval changes of the finding described above. However, one new lesion presenting as a 1.5-cm-sized highly enhancing mass attached to the right frontal skull was found (fig 1c). The mass corresponded to a sharply marginated lytic skull defect in the right frontal bone on the skull X-ray (fig 1d).

View Article: PubMed Central - PubMed

ABSTRACT

Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. Notably, she was diagnosed with diabetes insipidus at the age of 35. As ‘idiopathic cerebellar ataxia’ was suspected, diagnostic tests, including genetic testing as well as serum and cerebrospinal fluid analyses, and brain magnetic resonance imaging (MRI) were performed. All results were normal except those of MRI, performed 9 months prior to admission, which showed multiple dot-like white matter lesions with unclear cause. On a repeated brain MRI, a new lesion presenting as a 1.5-cm-sized highly enhancing mass attached to the right frontal skull was found. A sharply marginated lytic skull defect was also evident on skull X-ray, which corresponded to the lesion mass. Given these new radiological findings, a systemic review of the patient's medical history for rare secondary causes of cerebellar ataxia was performed, with particular attention to her past ‘diabetes insipidus’. The mass, lytic lesion of the skull, white matter lesion, diabetes insipidus, and cerebellar ataxia all suggested a final diagnosis of Langerhans cell histiocytosis (LCH), which was confirmed histopathologically. This is a rare case of late-onset LCH with an unusual initial symptom which underlines the importance of carefully reviewing the patient's medical history and broadening the search for etiologies beyond the nervous system.

No MeSH data available.


Related in: MedlinePlus