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Inherited Metabolic Diseases

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Pediatric Neurology and Neuroradiology

Abstract

The term “inherited metabolic diseases” designates a group of inherited diseases where a specific enzymatic deficit has been identified. However, though numerous data in this field have accumulated in recent years (2), there remains an even larger number of diseases in this group that also share genetic transmission, progressive symptomatology, and metabolic abnormalities, but where the precise enzymatic deficit remains unknown or is only suspected.

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References

References

  1. Adams RD, Lyon G (1983) Neurology of hereditary metabolic diseases of children. McGraw Hill, New York

    Google Scholar 

  2. Stanbury JB, Wyngaarden JB, Frederickson DS (1978) The metabolic basis of inherited disease. McGraw Hill, New York

    Google Scholar 

References

  1. Oepen G, Ostertag C (1981) Diagnostic value of CT in patients with Huntington’s chorea and their offspring. J Neurol 225:189–196

    Article  PubMed  CAS  Google Scholar 

  2. Osborne JP, Munson P, Burman D (1972) Huntington’s chorea. Arch Dis Child 57:99–103

    Article  Google Scholar 

References

  1. Harik SI, Post JD (1981) Computed tomography in Wilson’s disease. Neurology 31:107–110

    PubMed  CAS  Google Scholar 

  2. Merland JJ, Chiras J, Melki JP, Cassan JL (1978) Etude tomodensitométrique dans la maladie de Wilson. J Neuroradiol 16:269–270

    Article  CAS  Google Scholar 

  3. Nelson RF, Guzman DA, Grahovac Z, House DCN (1979) Computerized cranial tomography in Wilson’s disease. Neurology 29:866–868

    PubMed  CAS  Google Scholar 

  4. Walsh JM (1976) Wilson’s disease. In: Vinken PJ, Bruyn EN (eds) Handbook of clinical neurology, vol 27. North Holland, Amsterdam, pp 379–414

    Google Scholar 

  5. William JB, Walsh JM (1981) An analysis of the cranial computerized appearances found in 60 patients and the changes in response to treatement with chelating agents. Brain 104:735–752

    Article  Google Scholar 

References

  1. David RB, Rosenblum NI (1976) Necrotizing ence-phalomyelopathy (Leigh). In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 28. North Holland, Amsterdam, pp 349–363

    Google Scholar 

  2. Feigin I, Kim HS (1977) Subacute necrotizing ence-phalomyelopathy in a neonatal infant. J. Neu-ropathol Exp Neurol 36:364–372

    Article  CAS  Google Scholar 

  3. Hall K, Gardner-Medwin D (1978) CT-Scan appearances in Leigh’s disease (subacute necrotizing ence-phalomyelopathy). Neuroradiology 16:48–50

    Article  PubMed  CAS  Google Scholar 

  4. Hansen TL, Christensen E, Brandt NJ (1981) Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing en-cephalomyelopathy. Acta Paediatr Scand 71:263–267

    Article  Google Scholar 

  5. Giroud M, Verret S, Fortin G et al. (1982) Intérêt de la tomographic axiale dans la maladie de Leigh. Ann Pédiat 29:438–440

    PubMed  CAS  Google Scholar 

  6. Kamoshita S, Mizutani J, Fukuyama Y (1970) Leigh’s suacute necrotizing encephalomyelopathy in a child with infantile spasms and hypsarythmia. Dev Med Child Neurol 12:430–435

    Article  PubMed  CAS  Google Scholar 

  7. Plaitaki A, Whetsell WO, Cooper JR, Yahr MD (1980) Chronic Leigh disease: a genetic and biochemical study. Ann Neurol 7:304–310

    Article  Google Scholar 

  8. Schwartz WJ, Hutchinson HT, Berg DO (1981) Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 10:268–271

    Article  PubMed  CAS  Google Scholar 

  9. Sorbi S, Blass JP (1982) Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology 32:555–558

    PubMed  CAS  Google Scholar 

References

  1. David M, Baltassat P, Dinjon B et al. (1975) Poliodystrophie cérébrale infantile (maladie d’Alpers) chez un nourrisson avec hyperlactacidémie et anomalie de la pyruvate carboxylase hépatique. Arch Franç Pédiatr 32:580

    CAS  Google Scholar 

  2. Hart ZH, Cang CH, Perrin EUD et al. (1977) Familial poliodystrophy, mitochondrial myopathy and lactate acidemia. Arch Neurol 34:180–185

    CAS  Google Scholar 

  3. Heiman-Patterson TD, Bonilla E, Di Mauro S et al. (1982) Cytochrome-c-oxydase in a floppy child. Neurology 32:898–900

    PubMed  CAS  Google Scholar 

  4. Holliday PL, Climie AR, Gilroy J et al. (1983) Mitochondrial myopathy and encephalopathy: 3 cases —, a deficiency of NAD-CoA dehydrogenase? Neurology 33:1619–1622

    PubMed  CAS  Google Scholar 

  5. Huttenlocher PR, Solitare GB, Adams G (1976) Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 33:186–192

    PubMed  CAS  Google Scholar 

  6. Prick MJJ, Gabrels FJM, Renier WO et al. (1981) Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver. Arch Neurol 38:767–772

    PubMed  CAS  Google Scholar 

  7. Sandbank U, Lerman P (1972) Progressive cerebral poliodystrophy — Alpers’ disease. Disorganized giant neuronal mitochondria on electron microscopy. J Neurol Neurosurg Psychiatry 35:749–755

    Article  PubMed  CAS  Google Scholar 

References

  1. Dobrescu O, Larbrisseau A, Dube JJ, Weber ML (1980) Trichopoliodystrophie ou maladie de Menkes. Can Med Assoc J 123:490–497

    PubMed  CAS  Google Scholar 

  2. Dinno ND, Yacoub U, Hommer W et al. (1981) Pseudo-Menkes syndrome. J Pediatr 99:325

    PubMed  CAS  Google Scholar 

  3. Grover WD, Johnson WC, Henkin RI (1979) Clinical and biochemical aspects of trichopoliodystrophy. Ann Neurol 5:65–71

    Article  PubMed  CAS  Google Scholar 

  4. Haas RH, Chir B, Robinson A et al. (1981) An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology 31:852–859

    PubMed  CAS  Google Scholar 

  5. Menkes JH (1980) Textbook of child neurology, 2nd edn. Lea and Febiger, Philadelphia

    Google Scholar 

  6. Seay AR, Bray PF, Wing T et al. (1979) CT-Scan in Menkes disease. Neurology 29:204–212

    Google Scholar 

  7. Vuia O, Heye D (1974) Neuropathology aspects in Menkes’ kinky hair disease (trichopoliodystrophy). Neuropädiatrie 5:329–339

    Article  PubMed  CAS  Google Scholar 

References

  1. Aicardi J, Plouin P, Goutieres F (1978) Les céroidlipofuscinoses. Rev EEG Neurophysiol 8:149–160

    CAS  Google Scholar 

  2. Arsenio-Nunes ML, Goutieres F, Aicardi J (1981) An ultramicroscopic study of skin and conjunctival biopsies in chronic neurological disorders in childhood. Ann Neurol 9:163–173

    Article  PubMed  CAS  Google Scholar 

  3. Greenwood RS, Nelson JS (1978) Atypical neuronal ceroid-lipofuscinosis. Neurology 28:710–717

    PubMed  CAS  Google Scholar 

  4. Gutterlidge JMC, Rowley DA, Halliwell B (1982) Increased non protein-bound iron and decreased protection against superoxide radical damage in CSF from patients with neuronal lipofuscinosis. Lancet 2:459–460

    Article  Google Scholar 

  5. Langenstein I, Schwendemann G, Kuhne D et al. (1981) Neuronal lipofuscinosis: CCT findings in fourteen patients. Acta Paediatr Scand 70:857–860

    Article  Google Scholar 

  6. Pampiglione G, Harden A (1977) So-called neuronal ceroid-lipofuscinosis. Neurophysiological studies in 60 children. J Neurol Neurosurg Psychiatr 40:323–330

    Article  PubMed  CAS  Google Scholar 

  7. Sørensen JB, Parnas J (1979) A clinical study of 44 patients with juvenile amaurotic familial idiocy. Acta Psychiatr Scand 59:449–461

    Article  PubMed  Google Scholar 

References

  1. Aicardi J, Castelein P (1979) Infantile neuroaxonal dystrophy. Brain 102:727–748

    Article  PubMed  CAS  Google Scholar 

References

  1. Carpenter S, Karpati G (1981) Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Neurology 31:1564–1568

    PubMed  CAS  Google Scholar 

  2. Tassinari CA, Bureau-Paillas M, DallaBernardina B et al. (1978) La maladie de Lafora. Rev Electroence-phalogr Neurophysiol Clin 8:107–122

    Article  CAS  Google Scholar 

  3. Tinuper P, Aguglia U, Pelissier JF et al. (1983) Visual ictal phenomena in a case of Lafora disease proven by skin biopsy. Epilepsia 24:214–218

    Article  PubMed  CAS  Google Scholar 

References

  1. Friede RL (1975) Developmental neuropathology. Springer, New York Wien, pp 449–458

    Google Scholar 

  2. Jervis GA (1954) Microcephaly with extensive calcium deposits and demyelination. J Neuropathol Exp Neurol 13:318–329

    Article  PubMed  CAS  Google Scholar 

  3. Lyon G, Robain O, Philippart M (1968) Leucodys-trophy avec calcifications strio-cérébelleuses, microcéphalic et nanisme. Rev Neurol 119:197–210

    PubMed  CAS  Google Scholar 

  4. Markand ON, Gary BP, DeMyer WE et al. (1982) Brainstem auditory, visual and somatosensory evoked potentials in leukodytrophies. Electroence-phalogr Clin Neurophysiol 54:39–48

    Article  CAS  Google Scholar 

  5. Niakan A, Belluomini J, Lemmi H et al. (1979) Disturbance of the rapid-eye-movement sleep in 3 brothers with Pelizeaeus-Merzbacher disease. Ann Neurol 6:253–257

    Article  PubMed  CAS  Google Scholar 

  6. Renier WO, Gabreïls FJ, Husbinx TW et al. (1981) Connatal Pelizaeus-Merzbacher disease with congenital stridor in 2 maternal cousins. Acta Neuropathol 54:11–17

    Article  PubMed  CAS  Google Scholar 

  7. Rodière M, Goergescu M, Alric J et al. (1978) Données de l’EEG et de l’EMG dans les leucodystro-phies soudanophiles. Rev EEG Neurophysiol 8:167–174

    Google Scholar 

  8. Soffer D, Grotsky HW, Rapin I, Suzuki K (1979) Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol 6:340–348

    Article  PubMed  CAS  Google Scholar 

  9. Statz A, Boltshauser E, Schinzel A, Spiess H (1981) Computed tomography in Pelizeaeus-Merzbacher disease. Neuroradiology 22:103–105

    Article  PubMed  CAS  Google Scholar 

  10. Watanabe I, McCaman R, Dyken P et al. (1969) Absence of cerebral myelin sheats in a case of presumed Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol 28:243–246

    Article  PubMed  CAS  Google Scholar 

References

  1. Clarke JT, Qzere RL, Krause VW (1981) Early infantile variant of Krabbe globoid cell leucodystrophy with long involvement. Arch Dis Child 56:640–642

    Article  PubMed  CAS  Google Scholar 

  2. Farrell DF, Swedberg K (1981) Clinical and biochemical heterogeneity of globoid cell leucodystrophy. Ann Neurol 10:364–368

    Article  PubMed  CAS  Google Scholar 

  3. Martin JJ, Leroy JG, Martin L (1981) Fetal Krabbe leucodystrophy. A morphologic study of 2 cases. Acta Neuropathol 53:87–92

    Article  PubMed  CAS  Google Scholar 

  4. Suzuki K, Suzuki Y (1978) Galactosylceramide lipidosis: globoid cell leucodystrophy (Krabbe’s disease). In: Stanbury JB, Wyngaarten JB, Frederikson DS (eds) The metabolic basis of inherited diseases. McGraw Hill, New York, pp 747–769

    Google Scholar 

References

  1. Brown FR, Shimizu H, McDonald JM et al. (1981) Auditory evoked brainstem response and high performance liquid chromatography sulfatide assay as early indices of metachromatic leucodystrophy. Neurology 31:980–985

    PubMed  Google Scholar 

  2. Dulaney JT, Moser HW (1978) Sulfatide lipidosis: metachromatic leukodystrophy. In: Stanbury JB, Wyngaarden JB, Frederickson DS (eds) The metabolic basis of inherited diseases. McGraw Hill, New York, pp 770–809

    Google Scholar 

  3. Haltia T, Palo J, Haltia M, Icen A (1980) Juvenile metachromatic leucodystrophy (Clinical, biochemical and neuropathological studies in 9 new cases). Arch Neurol 37:42–46

    PubMed  CAS  Google Scholar 

  4. McFaul R, Cavanagh N, Lake BD et al. (1982) Metachromatic leukodystrophy: review of 38 cases. Arch Dis Child 57:168–175

    Article  Google Scholar 

References

  1. Arsenio Nunes ML, Goutières F, Aicardi J (1981) An ultramicroscopio study of skin and conjunctival biopsies in chronic neurological disorder of childhood. Ann Neurol 9:163–173

    Article  Google Scholar 

  2. Aubourg P, Diebler C (1982) Adrenoleucodystro-phy. Its diverse CT appearances and an evolutive or phenotypic variant: the leucodystrophy without adrenal insufficieny. Neuroradiology 24:33–42

    Article  PubMed  CAS  Google Scholar 

  3. Blaw ME (1970) Melanodermic type leucodystrophy (adrenoleucodystrophy). In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 10. North Holland, Amsterdam, pp 128–133

    Google Scholar 

  4. Dichiro G, Eiben RM, Manz HJ et al. (1980) A new CT pattern in adrenoleucodystrophy. Radiology 137:687–692

    CAS  Google Scholar 

  5. Duda FF, Huttenlocher PR (1976) Computed tomography in adrenoleucodystrophy: correlation of radiological and histological findings. Radiology 120:349–350

    PubMed  CAS  Google Scholar 

  6. Greenberg S, Halverson D, Lane B (1977) CT-scan-ning and diagnosis of adrenoleucodystrophy. Neurology 27:884–886

    PubMed  CAS  Google Scholar 

  7. Martin JJ, Ceuterik C, Libert J (1980) Skin and conjunctival nerve biopsies in adrenoleucodystrophy and its variants. Ann Neurol 8:291–295

    Article  PubMed  CAS  Google Scholar 

  8. Moser HW, Moser AB, Kawamura N et al. (1980) Adrenoleucodystrophy: elevated C26 fatty acid in skin fibroblasts. Ann Neurol 7:542–548

    Article  PubMed  CAS  Google Scholar 

  9. Moser HW, Moser AB, Kawamura N et al. (1980) Adrenoleucodystrophy: delineation of the pheno-type and implications of recent genetic and biochemical studies. Johns Hopkins Med J 147:217–224

    PubMed  CAS  Google Scholar 

  10. Schaumburg HH, Powers JM, Raine CS et al. (1975) Adrenoleucodystrophy: a clinical and pathological study of 17 cases. Arch Neurol 32:577–591

    PubMed  CAS  Google Scholar 

  11. Ulrich J (1971) Die zerebralen Entmarkungskrankheiten des Kindersalters. Springer, Berlin Heidelberg New York, p 378

    Google Scholar 

References

  1. Berginer VM, Berginer J, Salen G et al. (1981) Computed tomography in cerebrotendinous xanthomatosis. Neurology 31:1463–1465

    PubMed  CAS  Google Scholar 

References

  1. Boltshauser E, Spiess H, Isler W (1978) Computed tomography in neurodegenerative disorders in childhood. Neuroradiology 16:41–43

    Article  PubMed  CAS  Google Scholar 

  2. Cole G, DeVilliers F, Proctor NS et al. (1979) Alexander’s disease: case report including histopathological and electron microscopic features. J Neurosurg Neurol Psychiatr 42:619–624

    Article  CAS  Google Scholar 

  3. Holland JM, Kendall BE (1980) Computed tomography in Alexander’s disease. Neuroradiology 20:103–106

    Article  PubMed  CAS  Google Scholar 

  4. Nagao H, Kida K, Matsuda H et al. (1981) Alexander’s disease: clinical, electrodiagnostic and radiographic studies. Neuropediatrics 12:22–32

    Article  PubMed  CAS  Google Scholar 

  5. Ponsot G, Arthuis M (1979) Les mégalencéphalies infantiles progressives. A propos de 3 observations. Dégénérescence spongieuse du nevraxe. Maladie d’Alexander. Journées Parisiennes de Pédiatrie. Flammarion, Paris, pp 279–283

    Google Scholar 

  6. Russo JL, Aron A, Anderson J (1976) Alexander’s disease: a report and reappraisal. Neurology 26:607–614

    PubMed  Google Scholar 

References

  1. Andriola MR (1982) Computed tomography in the diagnosis of Canavan’s disease. Ann Neurol 11:323–324

    Article  PubMed  CAS  Google Scholar 

  2. Boltshauser E, Spiess H, Isler W (1978) Computed tomography in neurodegenerative disorders in childhood. Neuroradiology 16:41–43

    Article  PubMed  CAS  Google Scholar 

  3. Feigin J et al. (1968) The infantile spongy degeneration. Neurology 18:153–158

    PubMed  CAS  Google Scholar 

  4. Friede RL (1975) Developmental neuropathology. Springer, New York Wien, pp 478–484

    Google Scholar 

  5. Lisson G, Leupold D, Bechinger D, Wallesch C (1981) CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl CoA lyase. Neuroradiology 22:99–101

    Article  PubMed  CAS  Google Scholar 

  6. Rushton AR, Shaywitz BA, Duncan CC et al. (1981) Computed tomography in the diagnosis of Canavan’s disease. Ann Neurol 10:57–60

    Article  PubMed  CAS  Google Scholar 

References

  1. Coulter DL, Allen RJ (1981) Abrupt neurological deterioration in children with Kearns-Sayre syndrome. Arch Neurol 38:247–250

    PubMed  CAS  Google Scholar 

  2. Karpati G (1979) The Kearns-Sayre syndrome. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 38. Elsevier, Amsterdam, pp 221–232

    Google Scholar 

  3. Roberton WC, Visaskul C, Lee Ye et al. (1979) Basal ganglia calcifications in Kearns-Sayre syndrome. Arch Neurol 36:711–713

    Google Scholar 

  4. Siegel RS, Seeger IF, Gabrielson TO, Allen RJ (1979) Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). Radiology 130:159–164

    Google Scholar 

References

  1. Blaw ME, Langer LO (1969) Spinal cord compression in Morquio-Brailford’s disease. J Paediatr 74:592–600

    Article  Google Scholar 

  2. Dekaban AS, Constantopoulos G (1977) Mucopolysaccharidoses types I, II, IIIA and IV. Pathological and biochemical abnormalities in the neural and mesenchymal elements of the brain. Acta Neuropathol (Berl) 39:1–7

    Article  CAS  Google Scholar 

  3. Kriel RL, Hauser WA, Sung JH et al. (1978) Neu-roanatomical and electrencephalographic correlations in Sanfilippo syndrome, type A. Arch Neurol 35:838–843

    PubMed  CAS  Google Scholar 

  4. McKusick VA, Neufeld EF, Kelly TE (1978) The mucopolysaccharide storage diseases. In: Stanbury JB, Wyngaarden JB, Frederickson DS (eds) The metabolic basis of inherited disease, 3rd edn. McGraw-Hill, New York

    Google Scholar 

  5. Sostrin RD, Hasso AN, Peterson DI et al. (1977) Myelographic features of mucopolysaccharidosis: A new sign. Radiology 125:421–424

    PubMed  CAS  Google Scholar 

  6. Watts RWE, Spellacy E, Kendall BE et al. (1981) Computed tomography studies on patients with mucopolysaccharidoses. Neuroradiology 21:9–23

    Article  PubMed  CAS  Google Scholar 

References

  1. Bodensteiner JB, Goldblum RM, Goldman AS (1980) Progressive dystonia masking ataxia in ataxia-telangiectasia. Arch Neurol 37:464–465

    PubMed  CAS  Google Scholar 

  2. Bordigoni P, Faure G, Bene MC et al. (1982) Improvement of cellular immunity and IgA production in immuno deficient children after treatment with synthetic serum thymic factor (FTS). Lancet 2:293–297

    Article  PubMed  CAS  Google Scholar 

  3. Jason JM, Gelfand EW (1979) Diagnostic considerations in ataxia-telangiectasia. Arch Dis Child 54:682–686

    Article  PubMed  CAS  Google Scholar 

  4. Shaham M, Voss R, Becker Y et al. (1982) Prenatal diagnosis of ataxia-telangiectasia. J Pediatr 100:134–137

    Article  PubMed  CAS  Google Scholar 

  5. Terplan KL, Krauss RF (1969) Histopathologic brain changes in association with ataxia-telangiectasia. Neurology 19:446–454

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Centre Médico-Chirurgical Foch, 40, rue Worth, F-92151, Suresnes, France

    Dr. Claus Diebler

  2. Hôpital Saint Vincent de Paul, INSERM U29, 74, av. Denfert-Rochereau, F-75674, Paris Cedex 14, France

    Dr. Olivier Dulac

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  1. Dr. Claus Diebler
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  2. Dr. Olivier Dulac
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Diebler, C., Dulac, O. (1987). Inherited Metabolic Diseases. In: Pediatric Neurology and Neuroradiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-70378-2_3

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  • DOI: https://doi.org/10.1007/978-3-642-70378-2_3

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