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J7ournal ofNeurology, , and Psychiatry 1994;57:699-704 699

Association of Lhermitte-Duclos and Cowden J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.6.699 on 1 June 1994. Downloaded from disease: report of a new case and review of the literature

M Vinchon, S Blond, J P Lejeune, I Krivosik, P Fossati, R Assaker, J L Christiaens

Abstract present clinically with Lhermitte-Duclos disease is a rare entity, suggesting a slowly expanding lesion in the and its pathological features are unique. posterior fossa. Owing to its growth potential, Pathological findings are characteristic it has been regarded for a long time as a of the disease, with global hypertrophy of tumoural disease, despite preserved cytoarchi- the cerebellum, coarse gyri, and the tecture and the lack of mitoses, anaplasia, or typical "inverted cortex" pattern. angiogenesis. Such names as gangliocytoma, Several associated lesions were noted in , and purkinjeoma should be many patients with Lhermitte-Duclos avoided, as its nature is dysplasic, and not disease. It is only recently that an associa- tumoural, and the cells involved are granular tion between Lhermitte-Duclos disease and not Purkinje cells. and Cowden disease was reported. Many patients with Lhermitte-Duclos Cowden disease, or multiple disease have a large head, independent of the syndrome, is a familial disease associat- possible presence of hydrocephalus, and some ing breast cancer, cutaneomucous have a high arched palate. Since the review of tricholemmomas, and various other the literature by Ambler et al,6 who retrieved tumoural and dysplasic conditions. A 36 cases, a variety of other malformations new case of Lhermitte-Duclos disease have been commonly found in association associated with Cowden disease is with Lhermitte-Duclos disease, such as reported. A review of the literature found hydromyelia, hypertrophy of the olivary 72 cases of Lhermitte-Duclos disease; nuclei, white matter neuronal heterotopias, 26 had conditions suggesting Cowden leontiasis ossea,7 cutaneous angioma,5'0 disease and seven were definite cases of lipoma," 12 or congenital malformation of the Cowden disease. The association of extremities.6l'14 Some patients with Lhermitte-Duclos disease and Cowden Lhermitte-Duclos disease also had a tumour, disease is probably underestimated. benign or malignant, of the breast,615 parotid Cowden disease represents a new form of gland,7 16 or colon,6 thyroid gland,5 915-17 http://jnnp.bmj.com/ ; Lhermitte-Duclos disease brain.9 18 Ambler et al also reported the may occur as a sporadic disease, or as only familial occurrence of Lhermitte-Duclos part offamilial Cowden disease. The pos- disease in the literature. sibility of preneoplastic states in Cowden Cowden disease, or multiple syndrome stresses the importance of a disease, is a rare familial disease defined by thorough screening when Lhermitte- the association of cutaneous and oral Service de Duclos disease is diagnosed. tricholemmomas, with dysmorphic anomalies

Neurochirurgie, on September 26, 2021 by guest. Protected copyright. hopital B, Chr de and a propensity to develop tumours of the Lille, France (7NeurolNeurosurgPsychiatry 1994;57:699-704) skin, breast, thyroid, or gastrointestinal tract. M Vinchon Padberg et al 15 reported two cases of S Blond J P Lejeune Lhermitte-Duclos disease in two distinct fam- R Assaker Lhermitte-Duclos disease is a unique ilies, having relatives more or less affected J L Christiaens pathological entity, first described in 1920.1 It with features of Cowden disease. They postu- Laboratoire de is characterised by a dysplastic enlargement of lated that Lhermitte-Duclos disease might be Neuropathologie, the cerebellar cortex. Its macroscopical aspect a manifestation of Cowden disease. We report hopital B, Chr de Lille, France is typical, with broadened convolutions but a a new case of Lhermitte-Duclos disease associ- I Krivosik preserved gyral pattern. Microscopically, the ated with Cowden disease. Lhermitte-Duclos Service molecular layer is thickened by hyperplasia disease was the first manifestation, and this d'Endocrinologie, and hypertrophy of the myelinated fibres, case was the subject of a former report.9 This USN A, Chr de Lille, extending from abnormal cells in the granular comes France patient from a large family in which P Fossati layer. The granular layer is thickened, due to many members have been affected with other Correspondence to: hypertrophy of the granular cells. Purkinje conditions probably related to Cowden dis- Matthieu Vinchon, service cells are scarce, and the myelinated axis of the ease. To clarify the relation between de Neurochirurgie, H6pital B, Chr de Lille, 59037 Lille cerebellar folia is atrophic.2-5 The contrast Lhermitte-Duclos disease, and Cowden dis- cedex, France. between atrophy of the central white matter ease, we reviewed the cases reported in the lit- Received 5 April 1993 and hypermyelination of the superficial layer erature since the first general review of and in final revised form 2 August 1993. gives the typical "inverted cortex" appear- Ambler et a16 with special attention to associ- Accepted 18 August 1993 ance. Patients with Lhermitte-Duclos disease ated diseases. 700 Vinchon, Blond, Lejeune, Krivosik, Fossati, Assaker, Chnistiaens

Figure 1 CT scan, raised intracranial pressure. The investiga- J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.6.699 on 1 June 1994. Downloaded from performed in 1980 because tions failed to confirm the suspected tumour ofsymptoms of raised intracranial pressure, of the posterior fossa, and a provisional diag- disclosed a round, well nosis of aqueduct stenosis was made. The delimited, homogeneously patient underwent ventriculoatrial shunting, enhancing space-occupying lesion. A partial resection with a good relief of symptoms. She had a was performed. nodule in her left breast (no pathology Pathological examination available) removed in 1974, aged 18. In 1980, showed it to be a benign . the symptoms of raised intracranial pressure recurred, and a CT scan (fig 1) disclosed a trigonoseptal tumour. She underwent craniotomy, with partial resection of the lesion through a transventricular approach. The tumour was a benign astrocytoma. No further treatment was advised. In 1983, pelvic echography was performed because of metror- rhagia and disclosed an ovarian cyst. She was given hormonal treatment. She had a nodule in her right breast removed in 1984 (no pathology available). In the same year, she was investigated in the departnent of endocrinology, and a diagnosis of hypo- thalamic hyperprolactinaemia was made, the origin of which remains unclear. She was treated with bromocriptine. In 1986, her neurological symptoms recurred, with a pro- nounced gait ataxia. A repeat CT scan showed a hypodense, non-enhancing mass in the posterior fossa. MRI showed a large, ill- defined lesion compressing the . At craniotomy, the occipital bone was noted to Case report be very thin. The cerebellar gyral pattern The patient was born in 1956 with a weight of appeared preserved, albeit firmer than nor- 5 kg. She had transient neonatal anoxia, with- mal, and a tough, whitish tissue was found out apparent sequelae. Her mother had dia- underneath. It was easily resected, although betes mellitus, and several of her 14 siblings its limits with the cerebellar peduncle were also had macrosomia at birth. The patient had blurred, so that resection was only partial. rickets, and walked at 30 months. She was Pathological examination (fig 2) showed seen for the first time in our department in features characteristic of Lhermitte-Duclos 1971, aged 16, for ataxia and symptoms of disease. The postoperative course was uneventful, and her gait improved consider- ably. She then developed a goitre, and under- http://jnnp.bmj.com/ Figure 2 Pathological went subtotal thyroidectomy in 1989. examination from the Pathological examination disclosed a micro- cerebellar mass. The granular cell layer of the invasive vesicular carcinoma. cerebellar cortex contains She was seen again in our department in giant abnormal September 1992, There was no neurological cells and only relics of apart from a mildly ataxic gait and a normal granular cells are deficit, seen, appearing as small cerebellar tremor in the left arm. She had no dots at the bottom of the major intellectual impairment, with an overall on September 26, 2021 by guest. Protected copyright. picture. Hypertrophic of 86, and memory IQ of myelinated extensions of IQ of 92, verbal IQ abnormal are 92. Her head circumference was 62 cm. growing towards the Dermatological examination showed several surface of the cerebellar tricholemmomas over the nose subclavian cortex. Normal myelinated axons of white cerebellar area, and right elbow. She had a high arched substance are atrophic. palate, with upper jaw endoclusia. Control These pathological MRI (fig 3) showed no change in the poste- alterations make the characteristic inverted rior fossa and trigonoseptal lesions. A charac- cortex pattern, diagnostic teristic coarse gyral pattern could be ofLhermitte-Duclos recognised in the cerebellum, especially in the disease. Bodian stain; axial view (fig 4). Chromosomal banding originally x 100. showed no karyotypic aberration. Familial screening was informative (fig 5). The patient's mother, now aged 70, aside from her diabetes mellitus, was treated med- ically for a diffuse goitre. A goitre was also found in three of the patient's eight sisters. The patient's four maternal uncles all died of a gastric cancer and her elder brother also died of a cancer, allegedly located "in the region of Association ofLhermitte-Duclos and Cowden disease 701

Figure 3 MRI, 0---El J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.6.699 on 1 June 1994. Downloaded from September 1992, sagittal view: persistence of a large y d3 6 ff-23 cerebellar mass with no contrast uptake. The a 6 6 ±b b~ db b 66 coarse gyral pattern is E Goitre identified in the upper m Cancer vermis (large straight Hydrocephalus of arrow). Note the vertical M unknown origin orientation of the tentorium - Lhermitte-Duclos cerebelli (small arrows), in and relation to the protracted Cowden disease evolution of the disease. The curved arrow points at Figure 5 Family tree of the patient (arrow). Her mother the trough in the corpus and three ofher sisters had goitre. Herfour uncles and her callosum caused by the elder brother died ofa cancer. One nephew has transventricular approach hydrocephalus ofunknown orngin. to the trigonoseptal tumour. in the patients, or their relatives, were especially researched. We retrieved 72 cases,147 32 females and 29 males, with a mean age of 33-7 (range 1 to 74, SD 14) years. Clinical presentation consisted most often of symptoms of raised intracranial pressure and ataxia. In rare cases, other signs were pre- sent, such as impairment of ,' long tract dysfunction,'9 or orthostatic the neck". One of the patient's nephews was hypotension.'6 36 shunted for hydrocephalus of unknown The duration of symptoms before diagnosis origin. was reported in 28 cases. The mean was 46-0 months, with broad variations: in nine cases, it was shorter than one year; in six, it was one Review of the literature and discussion to two years; in six, it was two to four years. In We reviewed the cases of Lhermitte-Duclos eight cases, it was longer than five years, with a disease published in the literature, including duration of more than 10 years in five cases. the cases collected by Ambler et a1 and more Treatment was generally based on surgery recent ones. More than 76 cases have been alone. The extent of resection may be difficult reported. Of these, only 71 had the minimal to define, in the absence of tumoural limits, clinical data (age, sex, clinical presentation) and because of the multifocal nature of the needed for our study. The data regarding disease.5 Medical treatment, based on anti- associated dysmorphic or tumoural conditions oedema drugs may have some effect, as reported by Sonier et al4' but these authors did not report the outcome after six months.

Recurrence is not rare among long-term sur- http://jnnp.bmj.com/ Figure 4 MRI, September 1992 axial vivors: seven had local progression of the dis- view: the brainstem is ease years after the first operation, and three displaced by a swollen had to be reoperated on. cerebellar cortex, with no cistern visible. The The outcome was not as favourable in enlarged cerebellarfolia are many cases as the term "benign cerebellar easily seen (arrows). Right hypertrophy" would suggest. Twenty eight temporal artifacts are patients died, with 25 patients dying of the related to the shunt valve. tumour itself or after surgery. A high mortality on September 26, 2021 by guest. Protected copyright. was found mainly in the oldest cases, how- ever: 10 cases reported before 1978 were alive, and 23 were dead, v five dead and 27 alive after 1978 (no outcome reported in six cases). Most recent cases made a good post- operative recovery, so that associated diseases might occur later. Two patients died of metastatic carcinoma in relation to Cowden disease,67 and one of status epilepticus of unknown origin.34

ASSOCIATED LESIONS No other disease was reported in the patients or their relatives in 42 cases. In the remaining 29, noteworthy findings were reported. Involvement of the CNS should be distinguished from secondary to obstructive hydro- cephalus. In live patients, CT scan or MRI 702 Vinchon, Blond, Lejeune, Krivosik, Fossati, Assaker, Christiaens

allow such distinction. In necropsy series, related patients (mother and son) in a single J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.6.699 on 1 June 1994. Downloaded from brain weight is a good indicator. Normal brain occurrence.6 The mother had characteristic weight for adults is 1300 to 1500 g in males, features of Cowden disease, and died of 1200 to 1400 g in females.6 Brain weight was metastatic breast carcinoma. The son had reported in 12 cases: it was more than 1700 g epilepsy, and both had macrocephaly and in 11 cases. Head perimeter was reported in mental dullness. 13 cases: it was at or above 60 cm in all 13 Macrocephaly was reported in relatives in cases. Macrocephaly was considered to be eight occurrences,5152327304547 four of them present in 10 patients, with no figure reported being considered as cases of Cowden disease. by the authors. In total, out of 41 patients for Epilepsy was found in relatives on two which this information was provided, 35 occasions,'2 15 both in association with patients had macrocephaly, and only six had a Cowden disease. Mental retardation was normal head size. found in three cases,6 15 and psychosis in one.47 Intellectual impairment was found in six In his study of 15 subjects from two fami- patients.6 9 15 30 Although it had often been lies of patients with Lhermitte-Duclos disease, known for a long time before diagnosis, it may Padberg et al'5 found macrocephaly in eight be difficult to assess the real impact a poste- siblings, epilepsy in two, cerebellar symptoms rior fossa tumour may have on intellectual in six. On MRI, anomalies were found in development. All cases had macrocephaly, three siblings, gliosis in two, and developmen- and three of these had Cowden disease. tal anomalies of the cerebellum in one. Epilepsy was found in five cases,6153134 pre- Cutaneous angiomas were reported in two of ceding other symptoms in three cases.634 the cases of Padberg et al.'5 Tumours of the Other involvements of the CNS were thyroid (goitre or carcinoma) were found in reported. In the earliest publications, four more cases,9 1517 tumours of the breast in necropsy examination often disclosed CNS one,'5 lipoma in one,4' and stomach cancer in malformations, such as syringomyelia,6 hyper- the present report. trophy of olivary nuclei,'8 43 and white matter neuronal heterotopia.14 Nowadays, MRI can COWDEN DISEASE disclose discrete, subclinical alterations in live This familial disease was first reported in patients, such as gliosis in the centrum semio- 1963 by Lloyd and Dennis,48 who named it vale,'5 syringomyelia,17 or anomalies of venous from the first patient described. Several drainage in the cerebellum and cerebral hemi- women in her family were affected with breast spheres.10 Padberg et al'5 assumed that cancer, and many siblings had thyroid adeno- epilepsy was secondary to these white matter mas, a high arched palate, mental retardation, lesions. or skin tumours. Two patients had cerebellar tremor but none underwent neuroradiological Other lesions investigations. Buccal and cutaneous tric- Tumoural, malformative, or dysplasic disease holemmomas are considered constant in of a remarkable diversity, may be associated Cowden disease, but may be overlooked if not with Lhermitte-Duclos disease: specifically researched. Macrocephalia is a Lesions of the skin and subcutaneous common feature in Cowden disease, as well as

tissue have been found-namely, tricholem- a high arched palate, malformations of the http://jnnp.bmj.com/ momas,9 10-12 15 47 cutaneous angioma,8-10 or extremities, vascular malformations, and lipo- cavernous hemangioma,8 lipoma," angi- mas.49 We have seen that all these features olipoma," leontiasis ossea,7 cafeau-lait could also be found in Lhermitte-Duclos spots.61117 disease. Dysmorphic anomalies of the extremities Lhermitte-Duclos disease associated with may occur-namely, large feet,'3 large hands,6 Cowden disease seems to be a rare condition.49 a large thumb,'4 polyctylia.6 Enlargement of The first case was reported in 1981.12 hands and feet was also reported in a patient's Including retrospective cases of Lhermitte- on September 26, 2021 by guest. Protected copyright. brother, both being affected with Cowden Duclos disease not initially recognised as disease.47 Cowden disease, nine cases have been reported Tumours may be associated with to date.69 10121547 In all but one of these cases, Lhermitte-Duclos disease: goitre or carci- relatives were affected with one or more fea- noma of the thyroid,59 151747 breast can- tures of Cowden disease. This prompted cer 6,9,15,23 polyps of the colon,'6 of the Padberg et al'5 to state that Lhermitte-Duclos duodenum,6 cancer of the kidney,44 carcinoma disease and Cowden disease are "a single of the parotid,7 of the uterus,7 or glial phakomatosis". In our review however, many tumours: '8 or low grade astrocy- cases of Lhermitte-Duclos disease seemed iso- toma.9 lated, although we cannot be sure that Cowden Miscellaneous diseases include carotid- disease was not overlooked. Familial occur- cavernous fistula, lymphoid hyperplasia in the rence of Lhermitte-Duclos disease was lung,'2 cavernous angiomas of the liver, of the reported only once, and both patients had fea- ovary,47 ovarian cyst,9 10 and recurrent retinal tures of Cowden disease.6 On the other hand, detachment." some patients with known Cowden disease may have asymptomatic Lhermitte-Duclos dis- FAMILIAL INCIDENCE ease. In the absence of systematic neuroradio- In 56 cases, no significant pathological associ- logical screening in patients with Cowden ation was reported in the patient's relatives. disease, the real incidence of Lhermitte-Duclos Lhermitte-Duclos disease occurred in two disease in Cowden disease is as yet unknown. Association ofLhermitte-Duclos and Cowden disease 703

1 Lhermitte Duclos P. Sur un diffus du NOSOLOGICAL QUESTIONS J, ganglioneurome J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.6.699 on 1 June 1994. Downloaded from cortex du cervelet. Bull Assoc Fr Et Cancer 1920;9: Our study suggests that Lhermitte-Duclos 99-107. disease may be either a sporadic, isolated dis- 2 Shiurba RA, Gessaga EC, Eng LF, Sternberger LA, Sternberger NH, Urich H. Lhermitte-Duclos disease. ease, or occur in association with Cowden dis- Acta Neuropathol (Berl) 1988;75:474-80. ease, in a context of familial disease. The last 3 Yachnis AT, Trojanovski JQ, Memmo M, Schlaepfer WW. Expression of neurofilament proteins in the hyper- could be renamed Lhermitte-Duclos-Cowden trophic granule cells of Lhermitte-Duclos disease. disease. Familial occurrence of Lhermitte- JNeuropath Exp Neurol 1988;47:206-16. 4 Roski RA, Roessmann U, Spetzler RF, Kaufman B, Duclos disease was reported only once in the Nulsen F. Clinical and pathological study of dysplastic literature, in probable association with gangliocytoma. 7Neurosurg 198 1;55:318-21. 5 Beuche W, Wickbold J, Friede RL. Lhermitte-Duclos dis- Cowden disease.6 ease-its minimal lesions in microscope data and CT Owing to the fact that tricholemmoma is findings. Clin Neuropathol 1983;2:163-70. 6 Ambler M, Pogacar S, Sidman R. Lhermitte-Duclos dis- classically considered a prerequisite for the ease (granule cell hypertrophy of the cerebellum). diagnosis of Cowden disease, only a small Pathological analysis of the first familial cases. JNeuropatholExp Neurol 1969;28:622-47. number of cases of Lhermitte-Duclos disease 7 Schmidt MB. Uber halbsetitigen Riesenwuchs des meet the criteria for this diagnosis. Schadels und seine Beziehung zu Leontiasis und Ostitis fibrosa. Beitr Anat Physiol Pathol Ther Ohres Nase Halses Tricholemmomas, however, may be very dis- 1926;23:594-600. crete and be taken for trivial warts, so that 8 Duncan D, Snodgrass SR. Diffuse hypertrophy of the cerebellar cortex (myelinated ). Arch Neurol they are easily overlooked. Every patient with Psychiatry 1943;50:677-84. Lhermitte-Duclos disease should be screened 9 Lejeune JP, Blond S, Dupard T, Combelles G, Delandsheer JM, Christiaens JL. Maladie de Lhermitte- for the presence of other elements of Cowden Duclos: a propos d'une observation. Neurochirurgie disease. In the absence of tricholemmoma, 1987;33:408-1 1. 10 Williams DW, Elster AD, Ginsberg LE, Stanton C. however, the existence of other prominent Recurrent Lhermitte-Duclos disease: report of two cases features of this syndrome such as breast or and association with Cowden's disease. AmJ Neuroradiol 1992;13:287-90. thyroid cancer in the patients or their relatives 11 Marano SR, Johnson PC, Spetzler RF. Recurrent should be enough to raise the question of Lhermitte-Duclos disease in a child. J Neurosurg 1988; 69:599-603. Cowden disease. On the other hand, patients 12 Russel JR, O'Brien M, Welles RS. Cowden's disease. BrJ7 with Cowden disease should have clinical and Dermatol 1981;105 suppl 19:57-8. to exclude 13 Gessaga EC. Lhermitte-Duclos disease (diffuse hypertro- neuroradiological investigations phy of the cerebellum) Report of two cases. Neurosurg Lhermitte-Duclos disease. Rev 1980;3:151-8. stresses the 14 Ostertag B. Handbuch der speziellen pathologischen Anatomie Our review of the literature undHistologie. Berlin: Springer 1956;4:553. close relation between Lhermitte-Duclos- 15 Padberg GW, Schot JDL, Vielvoye GJ, Bots G Th, Cowden and other deBeer FC. Lhermitte-Duclos disease and Cowden Disease, phakomatoses: disease: a single phakomatosis. Ann Neurol 1991 ;29: dysplasic lesions of the cerebral or cerebellar 517-23. are sclerosis.50 16 Fischer W, Busch K Th. Gangliozytome: klinische und cortex found in tuberous morphologische Betrachtungen. 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