Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum

Abstract

A case of dysplastic gangliocytoma, or Lhermitte-Duclos disease, of the cerebellum is reported. The patient was the seventh reported survivor of this rare disease. A review of the known biology of the disease allows some optimism. The treatment of choice appears to be surgical resection only.

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

“…Macrocephaly, megaloencephaly, low I.Q., bilateral hypoacusia and deafness, dysarthria and previously diagnosed tumors of the nervous system in three patients (a low-grade astrocytoma, a spongioblastoma and a meningioma) have been reported in association with dysplastic gangliocytomas of the cerebellum [2,3,6,10,13,14,18]. These findings together with the existence of congenital cases and with cases appearing in early childhood and infants, has induced some investigators to consider that this condition represents a more complex embryological change than a simple hamartomatous transformation of some ganglionic cells in the cerebellum [7,23].…”

“…Since the pathogenesis of a dysplastic gangliocytoma is unknown and its biological behavior is unpredictable [5,15], a radical surgical removal of the lesion in the symptomatic cases is recommended [18]. Surgery largely improves the symptoms, even when only partial extirpations have been performed, due to the release of high intracranial pressure and of brain stem compression.…”

An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature

“…In these cases, latent aspiration may have contributed to fatal infection. Death due to respiratory disorder was previously reported only in a 19-year-old patient with cerebellar vermis hypoplasia complicated by gangliocytoma [51]. There appears to have been no report of sudden infantile death or fatality due to sudden apnea or convulsions related to Joubert syndrome.…”

“…When the literature was reviewed, respiratory disorder was not always associated with brainstem hypoplasia/dysplasia (Table 1: cases 3 , 5, 6, 8, 9 and 14) [5,12,15,31,33,51]. Previous cases of Joubert syndrome showed substantially varied prognoses with an average life of approximately 12 years [26,46,47].…”

Multiple congenital malformation in a Simental female calf: a case report

“…Similarly, a genetic basis has been determined for internal hydrocephalus (a simple autosomal recessive trait in many cattle palates (multifactorial or autosomal inheritance in the Charolais breed; Leech et al, 1978;Rousseaux, 1994). Theoretically, environmental modifications at the cellular level can, through various mechanisms, alter DNA unravelling, transcription, translation, and processing thereby producing morphologically abnormal cells, tissues, and possibly a phenotypically abnormal animal (Felsenfeld, 1978;Breathnach and Chambon, 1981).…”