The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)
Get full access to this article
View all access options for this article.
References
1.
Boltshauser E. , Speiss H., Isler W.: Computed tomography in neurodegenerative disorders in childhood. Neuroradiology1978 ;16:41-44.
2.
Heinz ER, Drayer BP, Haenggeli CA, et al: Computed tomography in white-matter disease. Radiology1979;130:371-378.
3.
Kingsley DP, Kendall BE: Demyelinating and neuro-degenerative disease in childhood: CT appearances and their differential diagnosis. J Neuroradiol1981;8:243-255.
4.
Lane B., Carroll BA, Pedley TA: Computerized cranial tomography in cerebral diseases of white matter . Neurology1978;28:534-544.
5.
Nowell MA, Grossman RI, Hackney DB, et al: MR imaging of white matter disease in children. AJNR1988;9:503-509.
6.
Robertson WC , Gomez MR, Reese DF, Okazaki H.: Computerized tomography in demyelinating disease in the young. Neurology1977;27:838-842.
Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York, McGraw-Hill, 1989.
9.
van der Knaap MS, Valk J.: MR imaging of the various stages of normal myelination during the first year of life. Neuroradiology1990;31:459-470.
10.
Naidich TP: Normal brain maturation. Int Pediatr1990;5: 81-86.
11.
Barkovich AJ , Kjos BO, Jackson DEJr, Norman D.: Normal maturation of the neonatal and infant brain: MR images at 1.5 T. Radiology1988;166:173-180.
12.
Johnson MA, Desai S., Hugh-Jones K., Starer F.: Magnetic resonance imaging of the brain in Hurler syndrome. AJNR1984;5:816-819.
13.
Murata R., Nakajima S., Tanaka A., et al: MR imaging of the brain in patients with mucopolysaccharidoses . AJNR1989;10: 1165-1170.
14.
Nelson J., Grebbell FS: The value of computed tomography in patients with mucopolysaccharidoses . Neuroradiology1987;29: 544-549.
15.
Rauch RA, Friloux LA III, Lott IT: MR imaging of cavitary lesions in the brain with Hurler/Scheie. AJNR1989;10:S1-S3.
16.
Watts RWE , Spellacy E., Kendall BE, et al: Computed tomography studies on patients with mucopolysaccharidoses . Neuroradiology1981;21:9-23.
17.
Brismar J., Aqeel A., Gascon G., Ozand P.: Malignant hyperphenylalaninemia: CT and MR of the brain. AJNR1990;11: 135-138.
18.
Brismar J., Aqeel A., Brismar G., et al: Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. AJNR1990 ;11:1219-1228.
19.
Fölling A.: Über Ausscheidung von Phenylbenztraubensäure in der Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. Hoppe-SeylersZ Physiol Chem1934;227:169-176.
20.
Behbehani AW , Krtsch H., Schulte FJ: Cranial computerized tomography in phenylketonuria . Neuropediatrics1981;12: 295-302.
21.
Pearsen KD, Gean-Marton AD, Levy HL, Davis KR: Phenylketonuria: MR imaging of the brain with clinical correlation . Radiology1990;177:437-440.
22.
Shaw DWW , Weinberger E., Maravilla KR: Cranial MR in phenylketonuria. J Comput Assist Tomogr1990;14:458-460.
23.
Press GA, Barshop BA, Haas RH, et al: Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR1989;10:315-321.
24.
Kendall BE, Kingsley DPE, Leonard JV, et al: Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. J Neurol Neurosurg Psychiatry1983;46:28-34.
Dave P., Curless RG, Steinman L.: Cerebellar hemorrhage complicating methylmalonic and propionic acidemia . Arch Neurol1984;41:1293-1296.
27.
Gebarski SS , Gabrielsen TO, Knake JE, Latack JT: Cerebral CT findings in methylmalonic and propionic acidemias. AJNR1983;4:955-957.
28.
Heidenreich R., Natowicz M., Hainline BE, et al: Acute extrapyramidal syndrome in methylmalonic acidemia: "Metabolic stroke" involving the globus pallidus. J Pediatr1988;113: 1022-1027.
29.
Mahoney MJ, Bick D.: Recent advances in the inherited methylmalonic acidemias. Acta Paediatr Scand1987;76:689-696.
30.
Korf B., Wallman JK, Levy HL: Bilateral lucency of the globus pallidus complicating methylmalonic acidemia . Ann Neurol1986;20:364-366.
31.
de Sousa C. , Piesowicz AT, Brett EM, Leonard JV: Focal changes in the globi pallidi associated with neurological dysfunction in methylmalonic acidaemia. Neuropediatrics1989;20:199-201.
32.
Lisson G., Leupold D., Bechinger D., Wallesch C.: CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoAlyase . Neuroradiology1981;22:99-101.
33.
Campistol J. , Fernandez Alvarez E, Cusi V.: CT scan appearance in subacute necrotising encephalomyelopathy. Dev Med Child Neurol1984;26:509-527.
34.
Chi JG, Yoo HW, Chang KH, et al: Leigh's subacute necrotizing encephalopathy: Possible diagnosis by CT scan. Neuroradiology1981;22:141-144.
35.
Davis PC, Hoffman JCJr, Braun IF, et al: MR of Leigh's disease (subacute necrotizing encephalomyelopathy) . AJNR1987;8: 71-75.
36.
Geyer CA, Sartor KJ, Prensky AJ, et al: Leigh disease (subacute necrotizing encephalomyelopathy): CT and MR in five cases. J Comput Assist Tomogr1988;12:40-44.
37.
Hall K., Gardner-Medwin D.: CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy) . Neuroradiology1978;16:48-50.
38.
Kissel JT, Kolkin S., Chakeres D., et al: Magnetic resonance imaging in a case of autopsy-proved adult subacute necrotizing encephalomyelopathy (Leigh's disease). Arch Neurol1987;44: 563-566.
39.
Medina L., Chi TL, DeVivo DC, Hilal SK: MR findings in patients with subacute necrotizing encephalopathy (Leigh syndrome): Correlation with biochemical defect. AJNR1990;11: 379-384.
40.
Paltiel HJ, O'Gorman AM, Meagher-Villemure K., et al: Subacute necrotizing encephalomyelopathy (Leigh disease): CT study. Radiology1987;162:115-118.
41.
Schwartz WJ , Hutchison HT, Berg BO: Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol1981;10:268-271.
42.
Taverni N., Dal Pozzo G., Arnetoli G., Zappoli R.: Diagnosis and follow-up of mitochondrial encephalomyopathy: CT and MR studiesJ Comput Assist Tomogr1988;12:696-697.
43.
Brismar J., Brismar G., Coates R., et al: Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses. AJNR1990;11:125-130.
44.
Guazzi GC, D'Amore I., Van Hoof F., et al: Type 3 (chronic) GM1 gangliosidosis presenting as infanto-choreo-athetotic dementia, without epilepsy, in three sisters. Neurology1988;38:1124-1127.
45.
Nakano T., Ikeda S., Kondo K., et al: Adult GM1-gangliosidosis: Clinical patterns and rectal biopsy . Neurology1985;35: 875-880.
46.
Fink JK, Filling-Katz MR, Sokol J., et al: Clinical spectrum of Niemann-Pick disease type C. Neurology1989;39:1040-1049.
47.
Dunn DW: CT in ceroid lipofuscinosis. Neurology1987 ;37: 1025-1026.
48.
Lagenstein I., Schwendemann G., Kühne D., et al: Neuronal ceroidlipofuscinosis: CCT findings in fourteen patients. Acta Paediatr Scand1981;70:857-860.
49.
Valavanis A. , Friede RL, Schubiger O., Hayek J.: Computed tomography in neuronal ceroid lipofuscinosis . Neuroradiology1980;19:35-38.
50.
Schipper HI , Seidel D.: Computed tomography in late-onset metachromatic leucodystrophy. Neuroradiology1984;26:39-44.
51.
Skomer C., Stears J., Austin J.: Metachromatic leukodystrophy (MLD). XV. Adult MLD with focal lesions by computed tomography. Arch Neurol1983;40:354-355.
52.
Waltz G., Harik SI, Kaufman B.: Adult metachromatic leukodystrophy. Value of computed tomography and magnetic resonance imaging of the brain. Arch Neurol1987;44:225-227.
53.
Matalon R., Kaul R., Casanova J., et al: Aspartoacylase deficiency: The enzyme defect in Canavan disease . J Inherited Metab Dis1989;12(Suppl 2):329-331.
54.
Brismar J., Brismar G., Gascon G., Ozand P.: Canavan disease: CT and MR imaging of the brain. AJNR1990;11:805-810.
55.
Baram TZ, Goldman AM, Percy AK: Krabbe disease: Specific MRI and CT findings. Neurology1986;36:111-115.
56.
Feanny SJ, Chuang SH, Becker LE, Clarke JTR: Inherited paraventricular hyperdensities: A new sign in Krabbe globoid cell leukodystrophy. J Inherited Metab Dis1987 ;10:24-27.
57.
Ieshima A., Eda I., Matsui A., et al: Computed tomography in Krabbe's disease: Comparison with neuropathology . Neuroradiology1983;25:323-327.
58.
Kwan E., Drace J., Enzmann D.: Specific CT findings in Krabbe disease. AJNR1984;5:453-458.
59.
Barnes D., Enzmann D.: The evolution of white matter disease as seen on computed tomography . Radiology1981;138:379-383.
60.
Caro PA, Marks HG: Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease. Magn Re-sonImaging1990;8:791-796.
61.
Journel H., Roussey M., Gandon Y., et al: Magnetic resonance imaging in Pelizaeus-Merzbacher disease. Neuroradiology1987;29:403-405.
62.
van der Knaap MS, Valk J.: The reflexion of histology in MR imaging of Pelizaeus-Merzbacher disease. AJNR1989 ;10: 99-103.
63.
Penner MW, Li KC, Gebarski SS, Allen RJ: MR imaging of Pelizaeus-Merzbacher disease. J Comput Assist Tomogr1987;11: 591-593.
Statz A., Boltshauser E., Schinzel A., Speiss H.: Computed tomography in Pelizaeus-Merzbacher disease. Neuroradiology1981;22:103-105.
66.
Boltshauser E., Yalcinkaya C., Wichmann W., et al: MRI in Cockayne syndrome type I. Neuroradiology1989;31:276-277.
67.
Nishio H., Kodama S., Matsuo T., et al: Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset. J Inherited Metab Dis1988;11:88-102.
68.
Farrell K., Chuang S., Becker L.: Computed tomography in Alexander's disease. Ann Neurol1984;15:605-607.
Holland IM, Kendall BE: Computed tomography in Alexander's disease. Neuroradiology1980;20:103-106.
71.
Aubourg P., Diebler C.: Adrenoleukodystrophy—its diverse CT appearances and an evolutive or phenotypic variant: The leukodystrophy without adrenal insufficiency. Neuroradiology1982;24:33-42.
72.
Aubourg P., Sellier N., Chaussain JL, Kalifa G.: MRI detects cerebral involvement in neurologically asymptomatic patients with adrenoleukodystrophy. Neurology1989;39:1619-1621.
73.
Di Chiro G., Eiben RM, Manz HJ, et al: A new CT pattern in adrenoleukodystrophy . Radiology1980;137:687-692.
74.
Ferro JM, Esteves MD, Lobo Antunes N, Pimentel JC: Demonstration of cerebellar involvement in adrenoleukodystrophy by CT. Neuroradiology1985;27:185.
75.
Hong-Magno E., Muraki AS, Huttenlocher PR: Atypical CT scans in adrenoleukodystrophy . J Comput Assist Tomogr1987;11:333-336.
76.
Inoue Y., Fukuda T., Takashima S., et al: Adrenoleukodystrophy: New CT findings. AJNR1983;4:951-954.
77.
MacDonald JT , Stauffer AE, Heitoff K.: Adrenoleukodystrophy: Early frontal lobe involvement on computed tomography. J Comput Assist Tomogr1984;8:128-130.
78.
O'Neill BP, Forbes GS: Computerized tomography and adrenoleukomyeloneuropathy. Differential appearance in disease subtypes. Arch Neurol1981;38:293-296.
