Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: Report of a new case and review of the literature

Brain and Development

Volumn 36, Issue 8, 2014, Pages 716-720

  Azzolini, Sara ^a   Nosadini, Margherita ^a   Balzarin, Marta ^a   Sartori, Stefano ^a   Suppiej, Agnese ^a   Mardari, Rodica ^a   Greggio, Nella Augusta ^a   Toldo, Irene ^a  

^a UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Allan Herndon Dudley syndrome; Brain magnetic resonance imaging; Central hypotonia; Monocarboxylate transporter 8; SLC16A2 gene; Thyroid hormone

Indexed keywords

ELECTROLYTE; MONOCARBOXYLATE TRANSPORTER 8; VITAMIN D; MONOCARBOXYLATE TRANSPORTER; SLC16A2 PROTEIN, HUMAN;

ALLAN HERNDON DUDLEY SYNDROME; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BLOOD SAMPLING; CASE REPORT; CHILD; CONVERGENT STRABISMUS; DNA SEQUENCE; FAMILY HISTORY; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GROWTH CURVE; HEAD CIRCUMFERENCE; HOSPITALIZATION; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; INTRAUTERINE GROWTH RETARDATION; LIVER FUNCTION; MALE; MYELINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; PREGNANCY; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; SITTING; SPEECH DISORDER; STOP CODON; THYROID DISEASE; THYROID FUNCTION; VITAMIN K DEFICIENCY; WALKING; WORLD HEALTH ORGANIZATION; X LINKED MENTAL RETARDATION; BRAIN; GENETICS; INFANT; MENTAL RETARDATION, X-LINKED; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MYELIN SHEATH; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOLOGY;

BRAIN; FRAMESHIFT MUTATION; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENTAL RETARDATION, X-LINKED; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MYELIN SHEATH;

EID: 84904473773     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.10.009     Document Type: Article

References (18)

1. Dumitrescu A.M., Liao X.H., Best T.B., Brockmann K., Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004, 74:168-175.
2. Schwartz C.E., May M.M., Carpenter N.J., Rogers R.C., Martin J., Bialer M.G., et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005, 77:41-53.
3. Holden K.R., Zuñiga O.F., May M.M., Su H., Molinero M.R., Rogers R.C., et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol 2005, 20:852-857.
4. Kakinuma H., Itoh M., Takahashi H. A novel mutation in the monocarboxylate transporter. gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. J Pediatr 2005, 147:552-554.
5. Biebermann H., Ambrugger P., Tarnow P., von Moers A., Schweizer U., Grueters A. Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. Eur J Endocrinol 2005, 153:359-366.
6. Herzovich V., Vaiani E., Marino R., Dratler G., Lazzati J.M., Tilitzky S., et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 2007, 67:1-6.
7. Namba N., Etani Y., Kitaoka T., Nakamoto Y., Nakacho M., Bessho K., et al. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. Eur J Pediatr 2008, 167:785-791.
8. Papadimitriou A., Dumitrescu A.M., Papavasiliou A., Fretzayas A., Nicolaidou P., Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics 2008, 121:199-202.
9. Sijens P.E., Rodiger L.A., Meiners L.C., Lunsing R.J. 1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. J Clin Endocrinol Metab 2008, 93:1854-1859.
10. Fuchs O., Pfarr N., Pohlenz J., Schmidt J. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol 2009, 51:240-244.
11. Vaurs-Barrière C., Deville M., Sarret C., Giraud G., Des Porte V., Prats-Viñas J.M. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol 2009, 65:114-118.
12. Boccone L., Mariotti S., Dessì V., Pruna D., Meloni A., Loudianos G. Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet 2010, 53:392-395.
13. Gika A.D., Siddiqui A., Hulse A.J., Edward S., Fallon P., McEntagart M.E., et al. White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol 2010, 52:475-482.
14. Crushell E., Reardon W. Elevated TSH levels in a mentally retarded boy. Eur J Pediatr 2010, 169:573-575.
15. Tsurusaki Y., Osaka H., Hamanoue H., Shimbo H., Tsuji M., Doi H., et al. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing. J Med Genet 2011, 48:606-609.
16. Zung A., Visser T.J., Uitterlinden A.G., Rivadeneira F., Friesema E.C. A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. Eur J Endocrinol 2011, 165:823-830.
17. Tonduti D., Vanderver A., Berardinelli A., Schmidt J.L., Collins C.D., Novara F., et al. MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol 2013, 28:795-800.
18. Van der Knaap M.S., Wolf N.I. Hypomyelination versus delayed myelination. Ann Neurol 2010, 68:115.