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Mucolipidosis IV: Histopathology of Conjunctiva, Cornea, and Skin

Mucolipidosis IV: Histopathology of Conjunctiva, Cornea, and Skin Abstract • The condition of a 4-year-old white girl of Ashkenazi Jewish parents was diagnosed as mucolipidosis IV on the basis of marked corneal clouding and severe psychomotor retardation, in the absence of facial-skeletal dysplasia or abnormal mucopolysacchariduria. The results of histochemical and ultrastructural studies of conjunctiva, skin, and corneal epithelium confirmed the combined storage of acid mucopolysaccharide and complex lipid substances. An unusual histopathologic feature of mucolipidosis IV is the predisposition for extreme storage involvement of corneal epithelial cells with relative sparing of the keratocytes, which is a finding of potential therapeutic implication. In addition, application of electron microscopic study of cultured amniotic cells and conjunctival biopsy specimens to assess for the parents the mother's subsequent pregnancy additionally emphasizes the value of ultrastructural studies in the diagnosis of lysosomal storage disease. References 1. Spranger JW, Wiedemann HR: The genetic mucolipidoses: Diagnosis and differential diagnosis . Humangenetik 9:113-139, 1970. 2. Berman ER, Livni N, Shapira E, et al: Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis . J Pediatr 84:519-526, 1974.Crossref 3. Merin S, Livni N, Berman ER, et al: Mucolipidosis IV: Ocular, systemic, and ultrastructural findings . Invest Ophthalmol 14:437-448, 1975. 4. Merin S, Nemet P, Livni N, et al: The cornea in mucolipidosis IV . J Pediatr Ophthalmol 13:289-295, 1976. 5. Newell FW, Matalon R, Meyer S: A new mucolipidosis with psychomotor retardation, corneal clouding and retinal degeneration . Am J Ophthalmol 80:440-449, 1975. 6. Tellez-Nagel I, Rapin I, Iwamoto T, et al: Mucolipidosis IV: Clinical ultrastructural, histochemical and chemical studies of a case, including brain biopsy . Arch Neurol 33:828-835, 1976.Crossref 7. Bach G, Cohen MM, Kohn G: Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV . Biochem Biophys Res Comm 66:1483-1490, 1975.Crossref 8. Kohn G, Livni N, Beyth Y, et al: Prenatal diagnosis of mucolipidosis IV by electron microscopy . Pediatr Res 9:314-320, 1975. 9. Van Hoof F, Libert J, Aubert-Tulkens J, et al: The assay of lacrymal enzymes and the ultrastructural analysis of conjunctival biopsies: New techniques for the study of inborn lysosomal diseases . Metab Ophthalmol 1:165-171, 1977. 10. Kenyon KR: Ocular ultrastructure of inherited metabolic disease , in Goldberg MF (ed): Genetic and Metabolic Eye Diseases . Boston, Little Brown & Co, 1974, pp 139-185. 11. Emery JM, Green WR, Wyllie RG, et al: GM, gangliosidosis: Ocular and pathological manifestations . Arch Ophthalmol 85:177-187, 1971.Crossref 12. Stein H, Berman ER, Livni N, et al: Pseudo-Hurler polydystrophy (mucolipidosis III): A clinical, biochemical and ultrastructural study . Isr J Med Sci 10:463-470, 1974. 13. Libert J, Van Hoof F, Farriaux JP, et al: Ocular findings in I-cell disease (mucolipidosis type II) . Am J Ophthalmol 83:617-628, 1977. 14. Kenyon KR, Sensenbrenner JA: Mucolipidosis II (I-cell disease): Ultrastructural observations of conjunctiva and skin . Invest Ophthalmol 10:555-567, 1971. 15. Libert J, Kenyon KR, Maumenee IH: Mucolipidosis III (pseudo-Hurler polydystrophy): Ultrastructure of conjunctival biopsies . Metab Ophthalmol 1:145-148, 1977. 16. Topping TM, Kenyon KR, Goldberg MF, et al: Ultrastructural ocular pathology of Hunter's syndrome: Systemic mucopolysaccharidosis type II . Arch Ophthalmol 86:164-177, 1971.Crossref 17. Dohlman CH, Carroll JM, Ahmad B, et al: Replacement of the corneal epithelium with a contact lens . Trans Am Acad Ophthalmol Otolaryngol 73:482-493, 1969. 18. Thoft RA: Conjunctival transplantation . Arch Ophthalmol 95:1425-1427, 1977.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Mucolipidosis IV: Histopathology of Conjunctiva, Cornea, and Skin

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References (20)

Publisher
American Medical Association
Copyright
Copyright © 1979 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1979.01020010560011
Publisher site
See Article on Publisher Site

Abstract

Abstract • The condition of a 4-year-old white girl of Ashkenazi Jewish parents was diagnosed as mucolipidosis IV on the basis of marked corneal clouding and severe psychomotor retardation, in the absence of facial-skeletal dysplasia or abnormal mucopolysacchariduria. The results of histochemical and ultrastructural studies of conjunctiva, skin, and corneal epithelium confirmed the combined storage of acid mucopolysaccharide and complex lipid substances. An unusual histopathologic feature of mucolipidosis IV is the predisposition for extreme storage involvement of corneal epithelial cells with relative sparing of the keratocytes, which is a finding of potential therapeutic implication. In addition, application of electron microscopic study of cultured amniotic cells and conjunctival biopsy specimens to assess for the parents the mother's subsequent pregnancy additionally emphasizes the value of ultrastructural studies in the diagnosis of lysosomal storage disease. References 1. Spranger JW, Wiedemann HR: The genetic mucolipidoses: Diagnosis and differential diagnosis . Humangenetik 9:113-139, 1970. 2. Berman ER, Livni N, Shapira E, et al: Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis . J Pediatr 84:519-526, 1974.Crossref 3. Merin S, Livni N, Berman ER, et al: Mucolipidosis IV: Ocular, systemic, and ultrastructural findings . Invest Ophthalmol 14:437-448, 1975. 4. Merin S, Nemet P, Livni N, et al: The cornea in mucolipidosis IV . J Pediatr Ophthalmol 13:289-295, 1976. 5. Newell FW, Matalon R, Meyer S: A new mucolipidosis with psychomotor retardation, corneal clouding and retinal degeneration . Am J Ophthalmol 80:440-449, 1975. 6. Tellez-Nagel I, Rapin I, Iwamoto T, et al: Mucolipidosis IV: Clinical ultrastructural, histochemical and chemical studies of a case, including brain biopsy . Arch Neurol 33:828-835, 1976.Crossref 7. Bach G, Cohen MM, Kohn G: Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV . Biochem Biophys Res Comm 66:1483-1490, 1975.Crossref 8. Kohn G, Livni N, Beyth Y, et al: Prenatal diagnosis of mucolipidosis IV by electron microscopy . Pediatr Res 9:314-320, 1975. 9. Van Hoof F, Libert J, Aubert-Tulkens J, et al: The assay of lacrymal enzymes and the ultrastructural analysis of conjunctival biopsies: New techniques for the study of inborn lysosomal diseases . Metab Ophthalmol 1:165-171, 1977. 10. Kenyon KR: Ocular ultrastructure of inherited metabolic disease , in Goldberg MF (ed): Genetic and Metabolic Eye Diseases . Boston, Little Brown & Co, 1974, pp 139-185. 11. Emery JM, Green WR, Wyllie RG, et al: GM, gangliosidosis: Ocular and pathological manifestations . Arch Ophthalmol 85:177-187, 1971.Crossref 12. Stein H, Berman ER, Livni N, et al: Pseudo-Hurler polydystrophy (mucolipidosis III): A clinical, biochemical and ultrastructural study . Isr J Med Sci 10:463-470, 1974. 13. Libert J, Van Hoof F, Farriaux JP, et al: Ocular findings in I-cell disease (mucolipidosis type II) . Am J Ophthalmol 83:617-628, 1977. 14. Kenyon KR, Sensenbrenner JA: Mucolipidosis II (I-cell disease): Ultrastructural observations of conjunctiva and skin . Invest Ophthalmol 10:555-567, 1971. 15. Libert J, Kenyon KR, Maumenee IH: Mucolipidosis III (pseudo-Hurler polydystrophy): Ultrastructure of conjunctival biopsies . Metab Ophthalmol 1:145-148, 1977. 16. Topping TM, Kenyon KR, Goldberg MF, et al: Ultrastructural ocular pathology of Hunter's syndrome: Systemic mucopolysaccharidosis type II . Arch Ophthalmol 86:164-177, 1971.Crossref 17. Dohlman CH, Carroll JM, Ahmad B, et al: Replacement of the corneal epithelium with a contact lens . Trans Am Acad Ophthalmol Otolaryngol 73:482-493, 1969. 18. Thoft RA: Conjunctival transplantation . Arch Ophthalmol 95:1425-1427, 1977.Crossref

Journal

Archives of Ophthalmology – American Medical Association

Published: Jun 1, 1979

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