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Year : 2003  |  Volume : 51  |  Issue : 4  |  Page : 556--558

Cerebrotendinous xanthomatosis with oromandibular dyskinesia

S Bordia, AA Saifee 
 Head of Department of Neurology, R.N.T. Medical College, Udaipur, India

Correspondence Address:
A A Saifee
Department of Neurology, R.N.T. Medical College, Udaipur - 313001
India

Abstract

We present an unusual case of cerebrotendinous xanthomatosis in a female elderly patient with recurrent TM joint dislocation and oromandibular dyskinesia.



How to cite this article:
Bordia S, Saifee A A. Cerebrotendinous xanthomatosis with oromandibular dyskinesia.Neurol India 2003;51:556-558


How to cite this URL:
Bordia S, Saifee A A. Cerebrotendinous xanthomatosis with oromandibular dyskinesia. Neurol India [serial online] 2003 [cited 2020 Aug 13 ];51:556-558
Available from: http://www.neurologyindia.com/text.asp?2003/51/4/556/5043


Full Text

 Introduction



Cerebrotendinous xanthomatosis is a rare but well-defined familial disease with varied presentation.[1] Xanthomas is a term describing the presence of yellowish fatty tumours on the tendons, which is a specific finding in the diagnosis of cerebrotendinous xanthomatosis, most often found in the Achilles tendon. In this disorder deposition of cholesterol and cholestanol are found in virtually every tissue, particularly in the brain, lungs and tendons.

Cerebrotendinous xanthomatosis with recurrent temporomandibular joint dislocation and oromandibular dyskinesia has not been previously reported. We document such a case and discuss the possible mechanism for this unusual presentation.



 Case Report



A 58-year-old lady came with recurrent true, external vertigo, for 20-25 years. Each episode lasted for 4-5 days and occurred occasionally initially, but increased to once a month. She also complained of multiple swellings on both upper and lower limbs [Figure:1], and hard palate, which were painless, gradually increasing in size for the last 25 years. Since 1998 the patient had difficulty in closure of mouth with pain in the temporomandibular joints. She was seen by a dental surgeon and diagnosed as a case of recurrent TM joint dislocation and was operated without any relief. 5. Since April 1999 she started having difficulty in swallowing solids and liquids, with nasal regurgitation. From 1999 till date she developed oromandibular dyskinesia.

On examination: A normotensive patient having multiple nodules on both upper and lower limbs, and hard palate with inability to close the mouth completely (she was examined before dyskinesia also and this finding was present even then. Xanthelesma seen on both lower eyelids.

Neurological examination revealed a highly anxious lady with gross oromandibular dyskinesia with occasional blephrospasm. Both palatal and pharyngeal reflexes were lost and there was decreased palatal movement on phonation.

Investigation revealed normal blood count, urine, urea, uric acid, sugar, X-ray chest, ceruloplasmin, liver function test, calcium, alkaline, phosphate, PTA, VDRL, TSH, PCV, CT and MRI brain. Only hematological abnormality was high cholesterol (542 mg%.)

Biopsy of nodular swelling showed a dense collection of fibro-collagenous tissue along with fat cells and cholesterol crystals as well as xanthomatous macrophages [Figure:2].



 Discussion



In 1937, Van Bogaert et al described 2 patients with cholesterinosis involving the lungs, tendon and CNS. Since then till date approximately 176 cases of cerebrotendinous xanthomatosis have been reported in world literature.

Till date no case of cerebrotendinous xanthomatosis has been reported in India to the best of our knowledge.

The neurological involvement reported in cerebrotendinous xanthomatosis includes progressive dementia, ataxia, pyramidal signs, myoclonus, peripheral neuropathy, bulbar-paresis, parkinsonism and different types of psychiatric manifestations.

Our patient presented with 2 very unusual manifestations:

1. Difficulty in closure of mouth which was though to be secondary to recurrent TM joint dislocation, seen by a dental surgeon and operated upon without any relief. It is well reported that in cerebrotendinous xanthomatosis there is deposition of cholesterol and cholestanol in tendons. The possible mechanism of this symptom in our patient could be deposition of cholesterol and cholestanol in TM joints.

2. This patient subsequently presented with classical oromandibular dyskinesia in addition to bulbar palsy. Extra-pyramidal involvement described in cerebrotendinous xanthomatosis was parkinsonism. Ours is the only case of oromandibular dyskinesia reported in world literature, possibly because of deposition of cholestanol and cholesterol in basal ganglia. Two different, homozygous mutations of the sterol 27-hydroxylase (CYP27) gene were identified in two Japanese families.[2] One was a novel transition, substituting T for G at Glu162 (GAG) resulting in a stop codon (TAG). The other also a transition, substituting T for C at Arg441 (CGG) resulting in Trp (TGG), was located in two amino acids ahead of the heme ligand binding site (Cys443) of the protein likely rendering it non-functional.

References

1James R. Schimschock MD, Ellsworth C, Alvord Jr, MD, Phillip D. Swanson, MD. Saattle: Carebrotandious Xanthomatosis Clinical and Pathological Studies: Arch Naurol 1968;18:688-97.
2Wakamatsu N, Hayashi M, Kawai H, Kando H, Gotodo Y, Nishida Y, et al. Mutations producing premature termination of translation and an amine acid substitution in the sterol 27 hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. J Neurol Neurosurge Psychiatry 1999;67:195-8.