Intracranial calcification in early infantile krabbe disease: Nothing new under the sun

Developmental Medicine and Child Neurology

Volumn 54, Issue 4, 2012, Pages 376-379

  Livingston, John H ^a   Graziano, Claudio ^b   Pysden, Karen ^a   Crow, Yanick J ^c   Mordekar, Santosh R ^d   Moroni, Isabella ^e   Uziel, Graziella ^e  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d Ryegate Children's Centre   (United Kingdom)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CHITOTRIOSIDASE; GABAPENTIN; GALACTOSYLCERAMIDASE; LACTIC ACID; PROTEIN; VALPROIC ACID;

ABNORMAL POSTURE; AICARDI GOUTIERES SYNDROME; ANTICONVULSANT THERAPY; AREFLEXIA; ARTICLE; BABINSKI REFLEX; BASAL GANGLION; BRAIN ATROPHY; BRAIN CALCIFICATION; CAPSULA INTERNA; CASE REPORT; CEREBELLUM; CHEST INFECTION; CHILD; CLONIC SEIZURE; COMPUTER ASSISTED TOMOGRAPHY; CORONA RADIATA (BRAIN); DELTA RHYTHM; DIFFERENTIAL DIAGNOSIS; DYSTONIA; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; EPILEPSY; EXON; FEEDING DIFFICULTY; FEMALE; GENE DELETION; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYDROCEPHALUS; HYPERREFLEXIA; INFANT; IRRITABILITY; LACTATE BLOOD LEVEL; MALE; MICROCEPHALY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; QUADRIPLEGIA; RESPIRATORY ARREST; SKIN FIBROBLAST; SPASTICITY; THALAMUS; WHITE MATTER; BRAIN; CALCINOSIS; PATHOLOGY; PATHOPHYSIOLOGY; RADIOGRAPHY;

BRAIN; CALCINOSIS; FEMALE; HUMANS; INFANT; LEUKODYSTROPHY, GLOBOID CELL; MAGNETIC RESONANCE IMAGING; MALE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84860254760     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.04167.x     Document Type: Article

References (17)

1. Choi S, Enzmann DR. Infantile Krabbe disease: complementary CT and MR findings. AJNR Am J Neuroradiol 1993; 14: 1164-6.
2. Vanhanen SL, Raininko R, Santavuori P. Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. AJNR Am J Neuroradiol 1994; 15: 1443-53.
3. Barkovich AJ. Paediatric Neuroimaging, 4th edn. Philadelphia: LippincottWilliams and Wilkins, 2005: 82-4.
4. Van der Knaap MS, Valk J. Magnetic Resonance of Myelination and Myelin Disorders, 3rd edn. Berlin: Springer, 2005: 87-95.
5. Crow YJ, Livingston JH. Aicardi-Goutie`res syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol 2008; 50: 410-6.
6. Suzuki K, Suzuki Y. Globoid cell leukodystrophy (Krabbe’s disease): deficiency of galactocerebroside-P-galactosidase. Proc Natl Acad Sci USA 1970; 66: 302-9.
7. Percy AK, Odrezin GT, Knowles PD, Rouah E, Armstrong DD. Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging. Acta Neuropathol 1994; 88: 26-32.
8. Sasaki M, Sakuragawa N, Takashima S, Hanaoka S, Arima M. MRI and CT findings in Krabbe disease. Pediatr Neurol 1991; 7: 283-8.
9. Aicardi J. Diseases of the Nervous System in Childhood. London: Mac Keith Press, 2009: 330-1.
10. Pastores GM, Kolodny EH. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, editors. Pediatric Neurology: Principles and Practice, 4th edn. Philadelphia: Mosby, 2006, 659-714.
11. Lyons G, Kolodny EH, Pastores GM. The Neurology of Hereditary Metabolic Diseases of Children, 3rd edn. New York: McGraw-Hill, 2006.
12. Kwan E, Drace J, Enzmann D. Specific CT findings in Krabbe’s disease. Am J Neuroradiol AJNR 1984; 5: 453-8.
13. Cavanagh N, Kendall B. High density on computed tomography in infantile Krabbe’s disease: a case report. Dev Med Child Neurol 1986; 28: 799-802.
14. Feanny SJ, Chuang SH, Becker LE, Clarke JTR. Intracerebral paraventricular hyperdensities: a new CT sign in Krabbe globoid cell leukodystrophy. J Inherited Metab Dis 1987; 10: 24-7.
15. Barone R, Bruhl K, Stoeter P, Fiumara A, Pavone L, Beck M. Clinical and neuroradiological findings in classical infantile and late-onset globoid-cell leucodystrophy (Krabbe disease). Am J Med Genet 1996; 63: 209-17.
16. Bonetti M, Fontana A, Cotticelli B, Sansone V, Micheli R. Early infantile and late infantile form of Krabbe disease: CT and MRI findings. Pediatr Med Chir 2007; 29: 206-11 (In Italian).
17. Lehman AM, Schultz KR, Poskitt K, et al. Intracranial calcification after cord blood neonatal transplantation for Krabbe disease. Neuropediatrics 2009; 40: 189-91.