Gastrointestinal
Gastrointest Radiol 1, 99-100 (1976)
Radiology ~C by Springer-Verlag 1976
Sulfatide Cholecystosis Paul Kleinman, Patricia Winchester, and Frank Volberg Department of Radiology, The New York Hospital - Cornell University Medical College, New York, New York, U.S.A.
Abstract. Polypoid masses containing metachromatic sulfatides have been found at autopsy in the gallbladder of patients with metachromatic leucodystrophy. In a 10-year-old girl with this disease oral cholecystrography demonstrated a filling defect, which was felt to represent a polyp. In the proper clinical setting, sulfatide cholecystosis should be considered in the differential diagnosis of polypoid lesions of the gallbladder. Key words: Gallbladder, diseases polyp.
Gallbladder,
The sphingolipidoses encompass six hereditary disorders characterized by abnormal accumulation of sphingolipids: Gaucher's (cerebroside), Nieman Pick (sphingomyelin), Gm~ Gangliosidosis (Ganglioside Gml), Tay-Sachs (Gm2 ganglioside) Fabry's (glycolipid), and metachromatic leucodystrophy (sulfatide). In metachromatic leucodystrophy (MLD) a fatal disorder, metachromatic sulfatides accumulate secondary to deficiency of the enzyme arylsulfatase-A [1]. Though the predominant symptoms are related to white matter degeneration with progressive neurologic disfunction, pathologic examination often reveals the accumulation of metachromatic material in nonneural sites. Several authors have described polypoid growths within the diseased gallbladder which would be expected to be apparent radiographically upon conventional cholecystography [2, 3]. The following report is felt to represent such an instance.
Fig. 1. Oral cholecystogram demonstrating fixed filling defect began to deteriorate. Three months prior to admission she developed a clumsy gait and tremors, which progressed to a markedly abnormal wide-based gait. Physical examination revealed generalized ataxia, hyper-reflexia, tremor, and wide-based gait. Sensory and cranial nerve function were intact. Computerized transaxial tomography and a four-vessel cerebral angiogram suggested diffuse white matter disease. A lumbar puncture revealed a cerebrospinal fluid protein of 85 mg/100 ml. Serum arylsulfatase-A activity was markedly depressed on two occasions: 5.8 units and 7 units (normal 27-114 units). An oral cholecystogram revealed a functioning normal sized gallbladder. A l-cm rounded filling defect was noted within the fundus. The filling defect remained unchanged in position on all views (Fig. 1).
Case Report
Discussion
A 10-year-01d girl was admitted to The New York Hospital because of ataxia. One year prior to admission her performance in school
The case reported directs attention to involvement of the gallbladder in MLD and the possibility of demonstrating polypoid filling defects on oral cholecystography. As the name indicates, heavy deposits of metachromatic sulfatides are present through-
Address for reprint requests." P. Kleinman, M.D., Department of Radiology, The New York H o s p i t a l - C o r n e l l University Medical College, 525 East 68th Street, New York, NY 10021, U.S.A.
100
out the brain, spinal cord, and peripheral nerves in MLD. However, metachromasia has been noted in a variety of organs outside the nervous system. With the exception of the kidneys, which are usually involved, extensive sulfatide deposits may be present in the gallbladder in the absence of significant metachromasia in other extraneural sites [4]. This suggests hepatic excretion of the sulfatide and concentration within the gallbladder. In 1947 Norman [3] described a small thickened gallbladder in an 18-year-old with MLD. Histologic examination revealed papillomatous fronds densely packed with macrophages containing metachromatic material. Dische [2] described the gallbladder of a 4-year-old boy with M L D with similar findings of polypoid masses containing metachromatic staining macrophages. Others [5, 6] have described thickened gallbladders with distention of villi and mucosal macrophages with metachromatic material without mention of polypoid masses. Cholecystography is performed infrequently in patients with MLD. The shrunken fibrotic appearance at autopsy suggests that nonfunction would be the case when the condition is advanced. Hagberg [5] reported a 3-year-old girl with M L D in whom oral cholecystography demonstrated a small gallbladder. A repeat exam shortly before death 9 months later showed no function. The organ was small and fibrotic at autopsy, with typical metachromatic deposits. Dalinka et al. [7] reported the results of an oral cholecystogram in a 41/2-year-old boy with MLD. They noted multiple filling defects within a normal sized gallbladder, which they felt represented calculi,
P. Kleinman et al. : Sulfatide Cholecystosis
but no pathologic confirmation of stones was described. No previous report could be found of such calculi in postmortem specimens in MLD. Perhaps their case, like that reported here, represents polyposis of the gallbladder secondary to sulfatide deposition. Of the sphingolipidoses, Gaucher's Disease is most familiar to the radiologist because of the characteristic bony and visceral changes related to the accumulation of cerebrosides. Polyposis of the gallbladder secondary to deposition of sulfatides distinguishes M L D as an additional lipidosis in which the radiologist may offer a clue in diagnosis.
References 1. Moser HW: Sulfatide lipidosis: metachromatic leukodystrophy, The Metabolic Basis of Inherited Disease. Third edition. Edited by J.B. Stanbury, JB Wyngaarden, DS Fredrickson. M'cGrawHill Co, New York, 1972, pp 688-729 2. Dische RM: Metachromatic leucodystrophic polyposis of the gall bladder. J Pathol 97:388 390, 1969, 3. Norman RM : Diffuse progressive metachromatic leucoencephalopathy: a form of Schilder's disease related to the lipoidoses. Brain 70:234-250, 1947 4. Hagberg B, Sourander P, Svennerholm L: Clinical and laboratory diagnosis of metachromatic leucodystrophy. Cerebral Pal~v Bulletin 3 : 4 3 8 4 4 2 (Oct) 1961 5. Hagberg B, Sourander P, Svennerholm L: Sulfatide lipidosis in c h i l d h o o d - r e p o r t of a case investigated during life and at autopsy. Am J Dis Child 104:644-656, 1962 6. Hagberg B, Sourander P, Svennerholm L, et al: Late infantile metachromatic leucodystrophy of the genetic type. Acta Paediatr. 49: 135-153, 1960 7. Dalinka MK, Rosen RA, Kurth R J, et al: Metachromatic leukod y s t r o p h y - a cause of cholelithiasis in childhood. Am J Dig Dis 14:603 606, 1969
Gastrointest Radiol 1, 99-100 (1976)
Radiology ~C by Springer-Verlag 1976
Sulfatide Cholecystosis Paul Kleinman, Patricia Winchester, and Frank Volberg Department of Radiology, The New York Hospital - Cornell University Medical College, New York, New York, U.S.A.
Abstract. Polypoid masses containing metachromatic sulfatides have been found at autopsy in the gallbladder of patients with metachromatic leucodystrophy. In a 10-year-old girl with this disease oral cholecystrography demonstrated a filling defect, which was felt to represent a polyp. In the proper clinical setting, sulfatide cholecystosis should be considered in the differential diagnosis of polypoid lesions of the gallbladder. Key words: Gallbladder, diseases polyp.
Gallbladder,
The sphingolipidoses encompass six hereditary disorders characterized by abnormal accumulation of sphingolipids: Gaucher's (cerebroside), Nieman Pick (sphingomyelin), Gm~ Gangliosidosis (Ganglioside Gml), Tay-Sachs (Gm2 ganglioside) Fabry's (glycolipid), and metachromatic leucodystrophy (sulfatide). In metachromatic leucodystrophy (MLD) a fatal disorder, metachromatic sulfatides accumulate secondary to deficiency of the enzyme arylsulfatase-A [1]. Though the predominant symptoms are related to white matter degeneration with progressive neurologic disfunction, pathologic examination often reveals the accumulation of metachromatic material in nonneural sites. Several authors have described polypoid growths within the diseased gallbladder which would be expected to be apparent radiographically upon conventional cholecystography [2, 3]. The following report is felt to represent such an instance.
Fig. 1. Oral cholecystogram demonstrating fixed filling defect began to deteriorate. Three months prior to admission she developed a clumsy gait and tremors, which progressed to a markedly abnormal wide-based gait. Physical examination revealed generalized ataxia, hyper-reflexia, tremor, and wide-based gait. Sensory and cranial nerve function were intact. Computerized transaxial tomography and a four-vessel cerebral angiogram suggested diffuse white matter disease. A lumbar puncture revealed a cerebrospinal fluid protein of 85 mg/100 ml. Serum arylsulfatase-A activity was markedly depressed on two occasions: 5.8 units and 7 units (normal 27-114 units). An oral cholecystogram revealed a functioning normal sized gallbladder. A l-cm rounded filling defect was noted within the fundus. The filling defect remained unchanged in position on all views (Fig. 1).
Case Report
Discussion
A 10-year-01d girl was admitted to The New York Hospital because of ataxia. One year prior to admission her performance in school
The case reported directs attention to involvement of the gallbladder in MLD and the possibility of demonstrating polypoid filling defects on oral cholecystography. As the name indicates, heavy deposits of metachromatic sulfatides are present through-
Address for reprint requests." P. Kleinman, M.D., Department of Radiology, The New York H o s p i t a l - C o r n e l l University Medical College, 525 East 68th Street, New York, NY 10021, U.S.A.
100
out the brain, spinal cord, and peripheral nerves in MLD. However, metachromasia has been noted in a variety of organs outside the nervous system. With the exception of the kidneys, which are usually involved, extensive sulfatide deposits may be present in the gallbladder in the absence of significant metachromasia in other extraneural sites [4]. This suggests hepatic excretion of the sulfatide and concentration within the gallbladder. In 1947 Norman [3] described a small thickened gallbladder in an 18-year-old with MLD. Histologic examination revealed papillomatous fronds densely packed with macrophages containing metachromatic material. Dische [2] described the gallbladder of a 4-year-old boy with M L D with similar findings of polypoid masses containing metachromatic staining macrophages. Others [5, 6] have described thickened gallbladders with distention of villi and mucosal macrophages with metachromatic material without mention of polypoid masses. Cholecystography is performed infrequently in patients with MLD. The shrunken fibrotic appearance at autopsy suggests that nonfunction would be the case when the condition is advanced. Hagberg [5] reported a 3-year-old girl with M L D in whom oral cholecystography demonstrated a small gallbladder. A repeat exam shortly before death 9 months later showed no function. The organ was small and fibrotic at autopsy, with typical metachromatic deposits. Dalinka et al. [7] reported the results of an oral cholecystogram in a 41/2-year-old boy with MLD. They noted multiple filling defects within a normal sized gallbladder, which they felt represented calculi,
P. Kleinman et al. : Sulfatide Cholecystosis
but no pathologic confirmation of stones was described. No previous report could be found of such calculi in postmortem specimens in MLD. Perhaps their case, like that reported here, represents polyposis of the gallbladder secondary to sulfatide deposition. Of the sphingolipidoses, Gaucher's Disease is most familiar to the radiologist because of the characteristic bony and visceral changes related to the accumulation of cerebrosides. Polyposis of the gallbladder secondary to deposition of sulfatides distinguishes M L D as an additional lipidosis in which the radiologist may offer a clue in diagnosis.
References 1. Moser HW: Sulfatide lipidosis: metachromatic leukodystrophy, The Metabolic Basis of Inherited Disease. Third edition. Edited by J.B. Stanbury, JB Wyngaarden, DS Fredrickson. M'cGrawHill Co, New York, 1972, pp 688-729 2. Dische RM: Metachromatic leucodystrophic polyposis of the gall bladder. J Pathol 97:388 390, 1969, 3. Norman RM : Diffuse progressive metachromatic leucoencephalopathy: a form of Schilder's disease related to the lipoidoses. Brain 70:234-250, 1947 4. Hagberg B, Sourander P, Svennerholm L: Clinical and laboratory diagnosis of metachromatic leucodystrophy. Cerebral Pal~v Bulletin 3 : 4 3 8 4 4 2 (Oct) 1961 5. Hagberg B, Sourander P, Svennerholm L: Sulfatide lipidosis in c h i l d h o o d - r e p o r t of a case investigated during life and at autopsy. Am J Dis Child 104:644-656, 1962 6. Hagberg B, Sourander P, Svennerholm L, et al: Late infantile metachromatic leucodystrophy of the genetic type. Acta Paediatr. 49: 135-153, 1960 7. Dalinka MK, Rosen RA, Kurth R J, et al: Metachromatic leukod y s t r o p h y - a cause of cholelithiasis in childhood. Am J Dig Dis 14:603 606, 1969
