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"Plus" Associated with Langerhans Cell Histiocytosis: a New Paraneoplastic Syndrome?

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18010ournal ofNeurology, Neurosurgery, and Psychiatry 1995;58:180-183 Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis: a new paraneoplastic syndrome? H Goldberg-Stem, R Weitz, R Zaizov, M Gomish, N Gadoth Abstract enabling the study of long term sequelae of Langerhans cell histiocytosis (LCH), LCH. formerly known as histiocytosis-X, mani- Ranson et al5 reported that about half of his fests by granulomatous lesions consisting patients with generalised LCH had "neu- of mixed histiocytic and eosinophilic ropsychiatric disability", and the Southwest cells. The hallmark of LCH invasion into Oncology Group reported on 17 out of 56 the CNS is diabetes insipidus, reflecting long term survivors who had a variety of neu- local infiltration of Langerhans cells into rological disabilities including cerebellar the posterior pituitary or hypothalumus. ataxia in two of them; details of neurological In five patients who had early onset state or neuroimaging studies were not LCH with no evidence of direct invasion noted.6 into the CNS, slowly progressive spino- The present report describes five patients cerebellar degeneration accompanied in who had extraneural LCH, in whom progres- some by pseudobulbar palsy and sive spinocerebellar syndrome appeared sev- intellectual decline was seen. Neuro- eral years after the initial diagnosis. logical impairment started 2-5 to seven In all cases the family history was negative years after the detection of LCH. No cor- and the initial neurological examination, CSF relation was found between the clinical content, and brain imaging at the time of syndrome and location of LCH or its LCH detection were normal. Diabetes mode of treatment. insipidus was looked for but never found, nei- An extensive search for metabolic, ther initially nor during the long term follow toxic, neoplastic, and hereditary aetiolo- up. A meticulous search for known causes of gies for progressive cerebellar degenera- progressive spinocerebellar impairment of tion was negative. It seems that the young onset was negative in all cases. clinical entity described here may be con- sidered a new paraneoplastic syndrome related to LCH. It may be induced by the Case reports eosinophil derived neurotoxin, which was PATIENT NO 1 shown to cause damage to Purkinje cells In a previously healthy child, LCH, in the and pyramidal neurons. form of eosinophilic granuloma of the left mastoid, was excised at the age of 18 months. ( Neurol Neurosurg Psychiatry 1995;58:180-183) There were no symptoms or signs of invasion of the CNS. After operation he was irradiated The Felsenstein locally and subsequently developed postradia- Research Center, Keywords: Langerhans cell histiocytosis; central tion necrosis of the left side of his face and Beilinson Medical nervous system; cerebellum. stemocleidomastoid muscle resulting in fixed Center, Petah Tiqva, left torticollis and left nerve deafness. His and Sackler Faculty of Medicine, Tel Aviv It is almost 40 years since Lichtenstein' linked condition remained stable until the age of 4 University, Tel Aviv, eosinophilic granuloma of bone, Letterer- years, when gradual gait instability appeared. Israel Siwe and Hand-Schuller Christian Subsequently, progressive dysarthria devel- Department of disease, Neurology syndrome under the term "histiocytosis-X". It oped. Severe motor dysfunction confined him H Goldberg-Stem seems that the presently used term to a wheelchair at the age of 30 years. N Gadoth Langerhans cell histiocytosis (LCH) is more Recurrent grand mal seizures occurred at the Department of appropriate as the pathological proliferation of age of 37 years and have been successfully Pediatric Neurology At the last clinic R Weitz Langerhans cells, with the typical Birkbeck controlled with phenytoin. is the uniform microscopic finding visit after 36 years of continuous follow up, Department of granules, Pediatric Hematology for all forms of histiocytosis-X.2 3 the cardinal neurological abnormalities - Oncolocy Complications of the CNS as a result of included emotional lability with uncontrolled R Zaizov LCH, manifested mainly by diabetes crying, severe dysarthria, gaze directed hori- Department of insipidus or cerebellar dysfunction, are tradi- zontal nystagmus, abnormal ocular smooth Radiology M Gornish tionally believed to result from (a) CNS pursuit, slow saccades, generalised hypotonia, extension from bones; (b) dural symmetric hyperreflexia, mild ankle clonus, Correspondence to: neighbouring Dr Goldberg-Stern, and leptomeningeal spread; (c) primary intra- bilateral extensor plantar response, severe dis- Department of Neurology, side effects of and limb and Beilinson Medical Center, parenchymatous lesions; (d) equilibrium ataxia, prominent Petah Tiqva, 49100, Israel. chemotherapy and radiotherapy; (e) a combi- dysmetria. Received 2 February 1994 nation of these.4 and in revised form recent and PATIENT NO 2 17 June 1994. In years, improved diagnosis Accepted 10 August 1994 treatment has resulted in prolonged survival, A girl was healthy until 3 months of age when Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis 181 Patient No 3, a 27year and gaze directed horizontal nystagmus were old man. (A) Tl weighted (TRITE 440127) sagittal; found. Progressive intellectual deterioration, and (B) coronal (TRITE confirmed by appropriate psychometric tests, 350112) 05 TMR resulted in his transfer to a special education images. Note pronounced institution. His latest neurological evaluation atrophy ofvermis, cerebellar hemispheres, and was performed at the age of 27. At that time pons with mildly prominent an examination of eye movement showed cerebral sulcifor age. abnormal pursuit with sluggish saccades, inability to maintain lateral gaze, rebound nystagmus, and lack of optokinetic nystag- mus. Brisk deep tendon reflexes with muscle hypotonia in the upper limbs and severe spas- tic weakness with hyperreflexia in the lower limbs, bilateral ankle clonus, and extensor plantar responses were also present; severe ataxia, dysmetria, cognitive deterioration, and frequent outbursts of uncontrolled laughter were also noted. PATIENT NO 4 A right handed man had a normal neonatal and early childhood history. A routine exami- nation before army enlistment showed an osteolytic lesion in the right 9th rib. This was excised and proved to be LCH, eosinophilic granuloma type. Afterwards he completed an uneventful army service. At the age of 21 he noticed gradual onset of disequilibrium with intentional tremor. Neurological examination showed a nasal voice, dysarthria, muscle hypotonia, brisk deep tendon reflexes, bilat- eral extensor plantar response, and bilateral ankle clonus. The finger to nose, heel-knee- shin, and Romberg tests were greatly impaired. His condition continued to deterio- rate very slowly and at the present time he can walk only with canes. PATIENT NO 5 erythematous seborrheic skin rash and puru- A 19 year old woman was healthy until the lent otitis were noted. An osteolytic lesion of age of 2 years when she had a mild head the left mastoid was seen on skull radi- trauma and was found to have a soft swelling at ographs. Skin biopsy disclosed typical LCH. the right side of her scalp. Skull radiographs The neurodevelopmental state, routine labo- and a radiological skeletal survey disclosed ratory tests, spinal fluid, skeletal radiological multiple lytic bone lesions (biparietal, right survey, and cerebral CT were normal. The proximal femur, and right iliac bone). The family history was negative. She was treated diagnosis of LCH, eosinophilic granuloma with vinblastine sulphate, cyclosphos- type was confirmed histologically. No treat- phamide, and prednisone divided into 17 sin- ment was offered, and she led a normal life gle doses during the first year of life. At the until the age of 9 when progressive ataxia with age of 3 years and 10 months she started drag- frequent falls was first noted. During the sub- ging her right leg. A year later she was seen for sequent years mental deterioration, severe dis- frequent falls. During the subsequent months, equilibrium and limb ataxia, dysarthria, mental deterioration, severe progressive abnormally brisk deep tendon reflexes, ankle ataxia, limb dysmetria, muscle hypotonia, clonus, and bilateral extensor plantar brisk deep tendon reflexes, and bilateral response were noted. During the 10 years of extensor plantar response were noted. follow up, slow deterioration with no evidence of relapse of disease was documented. PATIENT NO 3 A boy was healthy until 2 years of age when a ANCILLARY TESTS painful swelling was noted below his right In all five cases routine laboratory tests, auricle. Skull radiographs disclosed a round including a screen for metabolic errors of osteolytic lesion of the right mastoid, which childhood, heavy metal storage, CSF composi- was excised and found to be LCH, tion, EEG, nerve conduction studies, and eosinophilic granuloma type. He received a EMG were normal. In all cases brain CT dis- total dose of 750 rads to the affected area and closed mild to moderate cerebellar and pon- was well until the age of 4 years and 8 months tine atrophy, symmetric dilatation of the when unsteadiness and a wide based gait were ventricular system, and mild cerebral cortical noted. Six months later, pronounced ataxia atrophy. Similar findings were obtained in 182 Goldberg-Stern, Weitz, Zaizov, Gornish, Gadoth patients 1-4 by MRI. Neither masses, nor EMG, and nerve conduction studies together
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