Neurometabolic disorders and congenital malformations of the central nervous system

References

1. ↵
   1. Majeed-Saidan MA,
   2. Ammari AN,
   3. AlHashem AM,
   4. Al Rakaf MS,
   5. Shoukri MM,
   6. Garne E,
   7. et al.

   (2015) Effect of consanguinity on birth defects in Saudi women: results from a nested case-control study. Birth Defects Res A Clin Mol Teratol 103, 100–104.
2. ↵
   1. Alfadhel M,
   2. Al Othaim A,
   3. Al Saif S,
   4. Al Mutairi F,
   5. Alsayed M,
   6. Rahbeeni Z,
   7. et al.

   (2017) Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health 53, 585–591.
3. ↵
   1. Hunter AG

   (2002) Medical genetics:2. The diagnostic approach to the child with dysmorphic signs. CMAJ 167, 367–372.
4. ↵
   1. Prasad AN,
   2. Malinger G,
   3. Lerman-Sagie T

   (2009) Primary disorders of metabolism and disturbed fetal brain development. Clin Perinatol 36, 621–638.
5. 1. Brassier A,
   2. Ottolenghi C,
   3. Boddaert N,
   4. Sonigo P,
   5. Attié-Bitach T,
   6. Millischer-Bellaiche AE,
   7. et al.

   (2012) [Prenatal symptoms and diagnosis of inherited metabolic diseases]. Arch Pediatr 19, 959–969, French.
6. ↵
   1. Nissenkorn A,
   2. Michelson M,
   3. Ben-Zeev B,
   4. Lerman-Sagie T

   (2001) Inborn errors of metabolism: a cause of abnormal brain development. Neurology 56, 1265–1272.
7. ↵
   1. Bamforth FJ,
   2. Bamforth JS,
   3. Applegarth DA

   (1994) Structural anomalies in patients with inherited metabolic diseases. J Inherit Metab Dis 17, 330–332.
8. 1. Bamforth F,
   2. Bamforth S,
   3. Poskitt K,
   4. Applegarth D,
   5. Hall J

   (1988) Abnormalities of corpus callosum in patients with inherited metabolic diseases. Lancet 2, 451.
9. 1. Kolodny EH

   (1989) Agenesis of the corpus callosum: a marker for inherited metabolic disease? Neurology 39, 847–848.
10. ↵
    1. Dobyns WB

    (1989) Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology 39, 817–820.
11. 1. Whitehead MT,
    2. Fricke ST,
    3. Gropman AL

    (2015) Structural brain defects. Clin Perinatol 42, 337–361.
12. ↵
    1. Gropman AL

    (2012) Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol 19, 203–210.
13. ↵
    1. Tortori-Donati P,
    2. Rossi A

    1. Patay Z

    (2009) Metabolic disorders. in Pediatric neuroradiology: brain, head, neck and spine, eds Tortori-Donati P, Rossi A (Springer, Berlin (Germany)), 1st edition, 158–160.
14. 1. Barkovich AJ,
    2. Raybaud C

    1. Barkovich JA,
    2. Patay Z

    (2012) Metabolic, toxic, and inflammatory brain disorders. in Pediatric neuroimaging, eds Barkovich AJ, Raybaud C (Lippincott Williams & Wilkins, Philadelphia (PA)), 5th edition, 81–83.
15. ↵
    1. Poretti A1,
    2. Blaser SI,
    3. Lequin MH,
    4. Fatemi A,
    5. Meoded A,
    6. Northington FJ,
    7. et al.

    (2013) Neonatal neuroimaging findings in inborn errors of metabolism. J Magn Reson Imaging 37, 294–312.
16. ↵
    1. Viswanathan M,
    2. Treiman KA,
    3. Kish-Doto J,
    4. Middleton JC,
    5. Coker-Schwimmer EJ,
    6. Nicholson WK

    (2017) Folic Acid Supplementation for the Prevention of Neural Tube Defects: An Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA 317, 190–203.
17. ↵
    1. Harris BS,
    2. Bishop KC,
    3. Kemeny HR,
    4. Walker JS,
    5. Rhee E,
    6. Kuller JA

    (2017) Risk Factors for Birth Defects. Obstet Gynecol Surv 72, 123–135.
18. ↵
    1. Lee RW,
    2. Conley SK,
    3. Gropman A,
    4. Porter FD,
    5. Baker EH

    (2013) Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. Am J Med Genet A 161A, 2407–2419.
19. ↵
    1. Gropman AL

    (2013) Neuroimaging in mitochondrial disorders. Neurotherapeutics 10, 273–285.
20. ↵
    1. Kanungo S,
    2. Soares N,
    3. He M,
    4. Steiner RD

    (2013) Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev 17, 197–210.
21. ↵
    1. Brown GK

    (2005) Congenital brain malformations in mitochondrial disease. J Inherit Metab Dis 28, 393–401.
22. ↵
    1. Mohammad SA,
    2. Abdelkhalek HS

    (2017) Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging. Neuroradiology 59, 1155–1163.
23. ↵
    1. Ng SB,
    2. Buckingham KJ,
    3. Lee C,
    4. Bigham AW,
    5. Tabor HK,
    6. Dent KM,
    7. et al.

    (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42, 30–35.
24. ↵
    1. Shaheen R,
    2. Rahbeeni Z,
    3. Alhashem A,
    4. Faqeih E,
    5. Zhao Q,
    6. Xiong Y,
    7. et al.

    (2014) Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet 94, 898–904.
25. 1. Hoover-Fong JE,
    2. Shah S,
    3. Van Hove JL,
    4. Applegarth D,
    5. Toone J,
    6. Hamosh A

    (2004) Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 63, 1847–1853.
26. 1. Pirot N,
    2. Crahes M,
    3. Adle-Biassette H,
    4. Soares A,
    5. Bucourt M,
    6. Boutron A,
    7. et al.

    (2016) Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. J Neuropathol Exp Neurol 75, 227–238.
27. 1. Miles L,
    2. Greiner HM,
    3. Mangano FT,
    4. Horn PS,
    5. Leach JL,
    6. Miles MV

    (2015) Cytochrome c oxidase deficit is associated with the seizure onset zone in young patients with focal cortical dysplasia Type II. Metab Brain Dis 30, 1151–1160.
28. 1. Feraco P,
    2. Mirabelli-Badenier M,
    3. Severino M,
    4. Alpigiani MG,
    5. Di Rocco M,
    6. Biancheri R,
    7. et al.

    (2012) The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol 33, 2062–2067.
29. 1. Höck M,
    2. Wegleiter K,
    3. Ralser E,
    4. Kiechl-Kohlendorfer U,
    5. Scholl-Bürgi S,
    6. Fauth C,
    7. et al.

    (2015) ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis 10, 73.
30. 1. Lepais L,
    2. Cheillan D,
    3. Frachon SC,
    4. Hays S,
    5. Matthijs G,
    6. Panagiotakaki E,
    7. et al.

    (2015) ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. Am J Med Genet A 167A, 2748–2754.
31. 1. Mohebbi MR,
    2. Rush ET,
    3. Rizzo WB,
    4. Banagale RC

    (2012) Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. J Child Neurol 27, 1589–1592.
32. 1. Rieger D,
    2. Auerbach S,
    3. Robinson P,
    4. Gropman A

    (2013) Neuroimaging of lipid storage disorders. Dev Disabil Res Rev 17, 269–282.
33. 1. Kerrigan JF,
    2. Aleck KA,
    3. Tarby TJ,
    4. Bird CR,
    5. Heidenreich RA

    (2000) Fumaric aciduria: clinical and imaging features. Ann Neurol 47, 583–588.
34. 1. Khan A,
    2. Wei XC,
    3. Snyder FF,
    4. Mah JK,
    5. Waterham H,
    6. Wanders RJ

    (2010) Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging. Neuroradiology 52, 1163–1166.
35. 1. Jurecka A,
    2. Jurkiewicz E,
    3. Tylki-Szymanska A

    (2012) Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr 171, 131–138.
36. 1. Boemer F,
    2. Deberg M,
    3. Schoos R,
    4. Caberg JH,
    5. Gaillez S,
    6. Dugauquier C,
    7. et al.

    (2016) Diagnostic pitfall in antenatal manifestations of CPT II deficiency. Clin Genet 89, 193–197.
37. 1. Rego JI,
    2. Rocha AJ,
    3. Segatelli V,
    4. Oliveira EC

    (2014) Imaging features that allow for the recognition of Menkes disease. Arq Neuropsiquiatr 72, 396.
38. 1. Bindu PS,
    2. Christopher R,
    3. Mahadevan A,
    4. Bharath RD

    (2011) Clinical and imaging observations in isolated sulfite oxidase deficiency. J Child Neurol 26, 1036–1040.
39. 1. Mohammad SA,
    2. Abdelkhalek HS,
    3. Ahmed KA,
    4. Zaki OK

    (2015) Glutaric aciduria type 1: neuroimaging features with clinical correlation. Pediatr Radiol 45, 1696–1705.
40. 1. Mumtaz HA,
    2. Gupta V,
    3. Singh P,
    4. Marwaha RK,
    5. Khandelwal N

    (2010) MR imaging findings of glutaric aciduria type II. Singapore Med J 51, e69–e71.
41. 1. Friedman SD,
    2. Ishak GE,
    3. Poliachik SL,
    4. Poliakov AV,
    5. Otto RK,
    6. Shaw DW,
    7. et al.

    (2014) Callosal alterations in pyridoxine-dependent epilepsy. Dev Med Child Neurol 56, 1106–1110.
42. 1. Jain-Ghai S,
    2. Mishra N,
    3. Hahn C,
    4. Blaser S,
    5. Mercimek-Mahmutoglu S

    (2014) Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. Pediatrics 133, e1092–e1096.
43. 1. Shah S,
    2. Freeman E,
    3. Wolf V,
    4. Murthy S,
    5. Lotze T

    (2012) Intracranial optic nerve enlargement in infantile Krabbe disease. Neurology 78, e126.
44. 1. Allen RJ,
    2. Brunberg J,
    3. Schwartz E,
    4. Schaefer AM,
    5. Jackson G

    (1994) MRI characterization of cerebral dysgenesis in maternal PKU. Acta Paediatr Suppl 407, 83–85.
45. 1. Alfadhel M,
    2. Alrifai MT,
    3. Trujillano D,
    4. Alshaalan H,
    5. Al Othaim A,
    6. Al Rasheed S,
    7. et al.

    (2015) Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep 22, 11–16.
46. 1. García-Cazorla A,
    2. Rabier D,
    3. Touati G,
    4. Chadefaux-Vekemans B,
    5. Marsac C,
    6. de Lonlay P,
    7. et al.

    (2006) Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. Ann Neurol 59, 121–127.
47. 1. Alqahtani E,
    2. Huisman TA,
    3. Boltshauser E,
    4. Scheer I,
    5. Güngör T,
    6. Tekes A,
    7. et al.

    (2014) Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol 18, 211–217.