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Título

Cerebellar Ataxia associated with Langerhans-Cell Histiocytosis: a case report

RESUMO

Case presentation: A 36-year-old male patient suffered 2 episodes of skull fracture related to low kinetic energy accidents at the age of 3. When he was 4 years old, considering the imaging alterations and skull bones fragility, a bone biopsy was performed and suggested Langerhans-Cell Histiocytosis, which was confirmed with immunohistochemistry. The patient was submitted to chemotherapy for 1 year and 6 months with complete remission. When he was 12 years old, gait ataxia, urinary volume increase and cognitive delay started. At 14 years, ataxia stabilized. He was restricted to a wheelchair due to gait impairment. Cerebellar atrophy was identified by Magnetic Resonance Imaging (MRI). Diabetes Insipidus (DI) was diagnosed and therapy with desmopressin was introduced. During the following years, the patient presented pseudobulbar affect, lower limbs myoclonus, dysphagia and dysarthria. An MRI of the spine when he was 33 years old revealed T2 hypersignal in the lateral funiculi of the whole spinal cord, more prominent in the thoracic segment. A skull MRI when he was 35 years old showed midbrain and pontocerebellar atrophy with central pontine hypersignal and marked globus pallidus T2 hyposignal, in addition to focuses probably representing hemosiderin or calcifications at the temporo-occipital transitions and a slight increase in the supratentorial cerebrospinal fluid spaces. Discussion: Langerhans-cell histiocytosis (LCH) is considered the most common histiocytic disorder and is associated with an abnormal accumulation of immature histiocytes in some parts of the body, usually bone, skin, lungs and pituitary. Diabetes insipidus (DI) is the most common neurological manifestation, but cerebellar ataxia has been reported as an extremely rare presentation and may mimic an autosomal recessive ataxia. The mechanisms leading to cerebellar ataxia in Lagerhans-cell histiocytosis are still unclear. In our case, DI and ataxia presented almost simultaneously, and the patient also exhibited pyramidal syndrome and a pontine gliosis that may be related to osmotic demyelination events. Final considerations: Ataxia is a rare finding in LCH with a still unclear pathogenesis. It is possible that in some cases neurological complications of this disease are related to osmotic demyelination episodes caused by diabetes insipidus.

Palavras Chave

Langerhans-cell histiocytosis; ataxia; osmotic demyelination

Área

Neurogenética