Abstract
The cases of two sisters with late infantile Hallervorden-Spatz disease are reported, one of whom has died. Autopsy of the deceased patient showed typical pallidal lesions, such as axonal spheroids and iron deposits, without involvement of the substantia nigra. Ultrastructural examination revealed that pallidal axonal enlargements consisted of collecition of mitochondria, dense bodies, vesicles and amorphous material. In the living patient, brain MRI showed the classical “tiger's eye” appearance of the globus pallidus. Retinitis pigmentosa, acanthocytosis and slight neuromuscular involvement with an increase in serum creatine kinase were observed in both subjects. The appearance of the globus pallidus on MRI was in line with the pathological abnormalities. Ultrastructural differences between the principal disorders characterized by neuroaxonal dystrophy are compared and the clinical spectrum and similarities of the different forms of neuroacanthocytosis analysed.
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References
Aicardi J, Castelein P (1979) Infantile neuroaxonal dystrophy. Brain 102: 727–748
Angelini L, Nardocci N, Rumi V, Zorzi C, Strada L, Savoiardo M (1992) Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol 239:417–425
Brin MF (1993) Acanthocytosis. In: Goetz CG, Tanner CM, Aminoff MJ (eds) Handbook of clinical neurology, vol 19. (63). Elsevier, Amsterdam, pp 271–299
Bruyn GW (1986) Chorea-acanthocytoisis. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of clinicai neurology, vol 5 (49). Elsevier, Amsterdam, pp 327–334
Dooling EC, Schoene WC, Richardson EP (1974). Hallervorden-Spatz syndrone. Arch Neurol 30:70–83
Federico A, Battisti C, Eusebi MP, De Stefano N, Malandrini A, Mondelli M, Volpi N (1991) Vitamin E deficiency secondary to chronic intestinal malabsorption and effect of vitamin supplement: a case report. Eur Neurol 31:366–371
Gallucci M, Cardona F, Arachi M, Splendiani A, Bozzao A, Passariello R (1989) Follow-up MR studies in Hallervorden-Spatz disease. J Comput Assist Tomogr 14:118–120
Hardie JR (1989) Acanthocytosis and neurological impairment—review. Q J Med 264:291–306
Hardie RJ, Pullon HWH, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RHM, Jacobs JM, Tippet P, Duchen LW, Thomas PK, Marsden CD (1991) Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114:13–49
Herman MM, Huttenlocher PR, Bensch KG (1969) Electron microscopic observation in infantile neuroaxonal dystrophy. Arch Neurol 20:19–33
Higgins JJ, Patterson MC, Papadopoulos NM, Brady RO, Pentchev PG, Barton NW (1992) Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). Neurology 42:194–198
Jellinger K (1973) Neuroaxonal dystrophy: its natural history and related disorders. In: Zimmerman HM (ed) Progress in neuropathology, vol 2. Grune & Stratton, New York, pp 129–180
Luckembach MW, Green WR, Miller NR, Moser HW, Clark AW, Tennekoon G (1983) Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy. Am J Ophthalmol 95:369–382
Malandrini A, Fabrizi GM, Truschi F, DiPietro G, Moschini F, Bartalucci P, Berti G, Salvadori C, Bucalossi A, Guazzi GC (1994) Atypical McLeod syndrome manifested as x-linked chorea-acanthocytosis, neuromyopathy and dilated cardiomyopathy: report of a family. J Neurol Sci 124:89–95
Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD (1995) Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 45:487–492
Ramaekers VT, Lake BD, Harding B, Boyd S, Harden A, Brett EM, Wilson J (1987) Diagnostic difficulties in infantile neuroaxonal dystrophy. A clinicopathological study of eight cases. Neuropediatrics 18:170–175
Saito K, Yokoyama T, Okaniwa M, Kamoshita S (1982) Neuropathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis. Acta Neuropathol 158:187–192
Schaeffert DA, Johnsen SD, Johnson PC, Drayer BP (1989) Magnetic resonance imaging in pathologically proven Hallervorden-Spatz disease. Neurology 39:440–442
Seitelberger F (1986) Neuroaxonal dystrophy: its relation to aging and neurological diseases. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of clinical neurology, vol 5 (49). Elsevier, Amsterdam, pp 391–415
Seitelberger F, Jellinger K (1977) Neuroaxonal dystrophy and Hallervorden-Spatz disease. In: Goldensohn ES, Appel SH (eds) Scientific approaches to clinical neurology, vol 2. Lea & Febiger, Philadelphia, pp 1052–1072
Sethi KD, Adams RJ, Loring DW, El Gammal T (1988) Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 24:692–694
Southam E, Thomas PK, King RHM, Goss-Sampson MA, Muller DPR (1991) Experimental vitamin E deficiency in rats. Morphological and functional evidence of abnormal axonal transport secondary to free radical damage. Brain 114:915–936
Swisher CN, Menkes JH, Cancilla PA, Dodge PR (1972) Coexistence of Hallervorden-Spatz disease with acanthocytosis. Trans Am Neurol Assoc 97: 212–216
Tanfani G, Maschalchi M, Dal Pozzo GC, Taverni N, Saia A, Trevisan C (1987) MR imaging in a case of Hallervorden-Spatz disease. J Comput Assist Tomogr 11:1057–1058
Wisniewski K, Wisniewski HW (1980) Diagnosis of infantile neuroaxonal dystrophy by skin biopsy. Ann Neurol 17:377–379
Witt TN, Danek A, Reiter M, Heim MU, Dirschinger J, Olsen EGJ (1992) McLeod syndrome: a distinct form of neuroacanthocytosis. J Neurol 239:302–306
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Malandrini, A., Fabrizi, G.M., Bartalucci, P. et al. Clinicopathological study of familial late infantile Hallervorden-Spatz disease: a particular form of neuroacanthocytosis. Child's Nerv Syst 12, 155–160 (1996). https://doi.org/10.1007/BF00266820
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DOI: https://doi.org/10.1007/BF00266820