A 44 year old right handed woman complained of difficulty in moving. She and her relatives had skin telangiectasia or recurrent epistaxis. On neurological examination, she had a mask-like facies and bradykinesia in both extremities. Laboratory examinations showed iron deficiency anaemia and mild liver dysfunction with raised serum manganese. On T1 weighted cranial magnetic resonance imaging there were hyperintense areas in the globus pallidus bilaterally, suggesting manganese deposition. Abdominal angiography confirmed multiple portalsystemic shunts in the liver, and a needle biopsy of the liver showed diffuse dilatation of the sinusoids with fatty change. Levodopa did not improve the bradykinesia. This appears to be a case of hereditary haemorrhagic telangiectasia with manganese induced parkinsonism, which may be a new type of neurological disorder in such patients.H ereditary haemorrhagic telangiectasia, or Rendu-OslerWeber disease, was first reported by Rendu in 1896 as a systemic vascular disorder with idiopathic epistaxis and skin telangiectasia.1 It is now known to be caused by an abnormality of transforming growth factor β binding proteins, and the patients show hereditary systemic vascular disorders in an autosomal dominant fashion with a high penetrance of 97% by the age of 50 years.2 Recurrent epistaxis or bleeding in the gastrointestinal tract during adolescence is the first symptom of the disease. In the fourth or fifth decade of life, chronic anaemia after recurrent haemorrhage, congestive heart failure caused by pulmonary arteriovenous fistulae, or liver dysfunction associated with portal-systemic shunting become evident, depending on the amount and localisation of the vascular abnormalities.From the viewpoint of neurologists, the disease is interesting for its variety of complications in the central nervous system-paradoxical brain embolism or brain abscess in cases of pulmonary arteriovenous fistula (right to left shunt type, 61%); intracerebral haemorrhage or epilepsy in cases with arteriovenous malformations of the brain (parenchymal AVM type, 36%); and hepatic coma with progression of portalsystemic shunt (porto-systemic shunt type, 3%). In this study we present a patient with hereditary haemorrhagic telangiectasia with manganese induced parkinsonism. We propose that parkinsonism is a new neurological complication in this disease.
CASE REPORTA 44 year old right handed woman consulted the neurological clinic because of difficulty in moving. This was especially marked during fine finger movements or in agility exercises. The symptom was insidious and had progressed over 12 months. She was a housewife and had never been exposed to manganese or its compounds. She did not smoke or drink. At the age of 40 years, duodenal ulcer and iron deficiency anaemia were diagnosed. There were no similar symptoms among her relatives. However, the patient, her father, and her younger brother all had skin or mucosal telangiectasia, and her son had experienced recurrent epistaxis, suggesting an autosomal dominant v...
Objective In order to identify the factors that influence the swallowing function in patients who develop Wallenberg syndrome (WS) following lateral medullary infarction (LMI), we examined various patient characteristics, including the passage pattern abnormality (PPA) of a bolus through the upper esophageal sphincter (UES). Methods Fifty-four pure LMI patients with dysphagia participated in this study. PPA, defined as the failure of bolus passage through the UES corresponding to the intact side of the medulla, was identified during videofluorographic swallowing evaluations of each patient. On brain magnetic resonance imaging, the subjects' lesions were classified vertically into three levels and horizontally into seven levels in relation to the involvement of the ambiguous and/or solitary nuclei. Logistic regression analyses were performed for age, sex, PPA and the vertical and horizontal sites of the lesions. Results In terms of severity, 15 subjects were categorized as having mild dysphagia, 26 subjects were categorized as having moderate dysphagia and 13 were categorized as having severe dysphagia. Subjects with cephalic lesions, greater vertical spread of the lesion and PPA were more likely to have severe dysphagia. PPA and a greater vertical spread of the lesion were related to the severity of the functional outcome (p<0.01). The horizontal extent of the lesion was not strongly related to the prognosis. Conclusion The presence of PPA in LMI patients is suggestive of abnormalities in the swallowing pattern and, in turn, damage to the medullary central pattern generator. The presence of PPA and a greater vertical spread of the lesion can be useful predictors of severe dysphagia.
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