Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

被引：19

作者：

Caetano, Joana Serra ^{[1
]}

Costa, Carmen ^{[2
]}

Baets, Jonathan ^{[2
,3
,4
]}

Zimon, Madgalena ^{[3
,8
]}

Venancio, Margarida ^{[5
,7
]}

Saraiva, Jorge ^{[5
,7
]}

Negrao, Luis ^{[6
]}

Fineza, Isabel ^{[1
]}

机构：

[1] Ctr Hosp Univ Coimbra, Hosp Pediat Coimbra, Ctr Desenvolvimento Crianca Luis Borges, Unidade Neuropediat, Coimbra, Portugal

[2] Univ Antwerp VIB, Dept Mol Genet, Neurogenet Grp, B-2610 Antwerp, Belgium

[3] Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium

[4] Univ Antwerp Hosp, Dept Neurol, Antwerp, Belgium

[5] Ctr Hosp Univ Coimbra, Hosp Pediat Coimbra, Serv Genet Med, Coimbra, Portugal

[6] Ctr Hosp Univ Coimbra, Hosp Univ Coimbra, Coimbra, Portugal

[7] Univ Coimbra, Fac Med, P-3000 Coimbra, Portugal

[8] Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium

来源：

PEDIATRIC NEUROLOGY | 2014年 / 50卷 / 01期

关键词：

HINT1; axonal neuropathy; neuromyotonia; myotonia; neuropathy; MARIE-TOOTH-DISEASE; HEREDITARY MOTOR; NATURAL-HISTORY; MANAGEMENT; DIAGNOSIS;

D O I：

10.1016/j.pediatrneurol.2013.08.028

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the HINT1 gene, encoding histidine triad nucleotide-binding protein 1. PATIENT: The authors report a Portuguese 16-year-old girl of Roma ethnicity, descendant of consanguineous parents, with progressive distal muscular atrophy and weakness, beginning at age 6. After several years of extensive investigation with inconclusive results, clinical myotonia was identified. Electrophysiologic studies revealed neuromyotonia associated with a severe chronic predominantly motor axonal neuropathy and homozygous mutation (c.334 C > A, p.H112 N) in HINT1 was detected. CONCLUSION: This report emphasizes the late onset of clinical myotonia essential to the diagnosis.

引用

页码：104 / 107

页数：4

共 16 条

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