Diabetic ketoacidosis in an adult patient with spinal muscular atrophy type II: Further evidence of extraneural pathology due to survival motor neuron 1 mutation?

Journal of Child Neurology

Volumn 28, Issue 11, 2013, Pages 1517-1520

  Lamarca, Nicole Holuba ^a   Golden, Lauren ^a   John, Rita Marie ^a   Naini, Ali ^a   De Vivo, Darryl C ^a   Sproule, Douglas M ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

diabetes mellitus; diabetic ketoacidosis; spinal muscular atrophy; survival motor neuron 1 gene

Indexed keywords

GLUCOSE; INSULIN; KETONE; LACTIC ACID; SURVIVAL MOTOR NEURON PROTEIN 1;

ADULT; AMPLITUDE MODULATION; ANION GAP; ARTICLE; BICEPS BRACHII MUSCLE; CARBOHYDRATE DIET; CASE REPORT; DIABETIC KETOACIDOSIS; DISEASE ASSOCIATION; DYSPHAGIA; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EMERGENCY WARD; FACIAL NERVE PARALYSIS; FASCICULATION; GENE MUTATION; GLUCOSE BLOOD LEVEL; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; KYPHOSCOLIOSIS; LEG MOVEMENT; MALE; MOTOR UNIT; NERVE CONDUCTION; NERVE POTENTIAL; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; SENSORY NERVE; SPINAL MUSCULAR ATROPHY; ST SEGMENT; T WAVE; TACHYCARDIA; THORAX PAIN; URINALYSIS; XEROSTOMIA;

EID: 84886439108     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812460096     Document Type: Article

References (25)

1. Bowerman M, Murray LM, Beauvais A, et al. A critical SMN threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul Disord. 2012 ; 22 (3). 263-276
2. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007 ; 22 (8). 1027-1049
3. Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011 ; 68 (8). 979-984
4. Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet. 2010 ; 19 (R1). R111 - R118
5. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet. 1997 ; 16 (3). 265-269
6. Zanoteli E, Maximino JR, Conti Reed U, Chadi G. Spinal muscular atrophy: from animal model to clinical trial. Funct Neurol. 2010 ; 25 (2). 73-79
7. Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat Rev Neurosci. 2009 ; 10 (8). 597-609
8. Hua Y, Sahashi K, Rigo F, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. 2011 ; 478 (7367). 123-126
9. Sleigh JN, Gillingwater TH, Talbot K. The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy. Dis Model Mech. 2011 ; 4 (4). 457-467
10. Bevan AK, Hutchinson KR, Foust KD, et al. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet. 2010 ; 19 (20). 3895-3905
11. Heier CR, Satta R, Lutz C, DiDonato CJ. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet. 2010 ; 19 (20). 3906-3918
12. Shababi M, Habibi J, Yang HT, et al. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet. 2010 ; 19 (20). 4059-4071
13. Hsieh-Li HM, Chang JG, Jong YJ, et al. A mouse model for spinal muscular atrophy. Nat Genet. 2000 ; 24 (1). 66-70
14. Rudnik-Schoneborn S, Vogelgesang S, Armbrust S, et al. Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve. 2010 ; 42 (1). 144-147
15. Bowerman M, Swoboda KJ, Michalski J-P, et al. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol. 2012 ; 72 (2). 256-268
16. Rudnik-Schoneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008 ; 45 (10). 635-638
17. Moller P, Moe N, Saugstad OD, et al. Spinal muscular atrophy type I combined with atrial septal defect in three sibs. Clin Genet. 1990 ; 38 (2). 81-83
18. Oskoui M, Kaufmann P. Spinal muscular atrophy. Neurotherapeutics. 2008 ; 5 (4). 499-506
19. Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007 ; 69 (20). 1931-1936
20. Bach JR. Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007 ; 86 (5). 349-355
21. Vitte JM, Davoult B, Roblot N, et al. Deletion of murine SMN exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol. 2004 ; 165 (5). 1731-1741
22. Zolkipli Z, Sherlock M, Biggar WD, et al. Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks. Eur J Paediatr Neurol. 2012 ; 16 (5). 549-553
23. Crawford TO, Sladky JT, Hurko O, et al. Abnormal fatty acid metabolism in childhood spinal muscular atrophy. Ann Neurol. 1999 ; 45 (3). 337-343
24. Gavrilina TO, McGovern VL, Workman E, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008 ; 17 (8). 1063-1075
25. Wang J, Miao D, Babu S, et al. Prevalence of autoantibody-negative diabetes is not rare at all ages and increases with older age and obesity. J Clin Endocrinol Metab. 2007 ; 92 (1). 88-92