Two Siblings Diagnosed as Lafora Disease

被引:0
|
作者
Gomceli, Yasemin Bicer [1 ]
Erdal, Abidin [1 ]
Kutlu, Gulnihal [1 ]
Inan, Levent Ertugrul [1 ]
机构
[1] Minist Hlth Ankara Training & Res Hosp, Dept Neurol, Ankara, Turkey
关键词
Myoclonic epilepsy; progressive; Lafora disease;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Lafora disease is a typical progressive myoclonic epilepsy that is characterized by autosomal recessive inheritance, myoclonic and occipital seizures, progressive dementia, ataxia, and dysarthria. Two siblings with myoclonic and generalized tonic clonic seizures, progressive dementia, ataxia and dysarthria, who were diagnosed as Lafora disease by sweat gland biopsy, are discussed.
引用
收藏
页码:40 / 46
页数:7
相关论文
共 50 条
  • [21] Late onset and slow progressing Lafora Disease in four siblings with EPM2B mutation
    Baykan, B
    Striano, P
    Gianotti, S
    Bebek, N
    Gennaro, E
    Gurses, C
    Zara, F
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S90 - S91
  • [22] Congenital CLN disease in two siblings
    Meyer, Sascha
    Yilmaz, Umut
    Kim, Yoo-Jin
    Steinfeld, Robert
    Meyberg-Solomayer, Gabriele
    Oehl-Jaschkowitz, Barbara
    Tzschach, Andreas
    Gortner, Ludwig
    Igel, Julia
    Schofer, Otto
    [J]. WIENER MEDIZINISCHE WOCHENSCHRIFT, 2015, 165 (9-10) : 210 - 213
  • [23] Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision
    Farahvash, Armin
    Kassardjian, Charles D.
    Micieli, Jonathan A.
    [J]. CASE REPORTS IN OPHTHALMOLOGY, 2021, 12 (01): : 174 - 181
  • [24] MUSCLE IN LAFORA DISEASE
    COLEMAN, DL
    GAMBETTI, P
    DIMAURO, S
    BLUME, RE
    [J]. ARCHIVES OF NEUROLOGY, 1974, 31 (06) : 396 - 406
  • [25] LAFORA DISEASE IN THE COW
    SIMMONS, MM
    [J]. JOURNAL OF COMPARATIVE PATHOLOGY, 1994, 110 (04) : 389 - 401
  • [26] MYOCARDIUM IN LAFORA DISEASE
    YOKOI, S
    AIHARA, Y
    MAEDA, S
    [J]. ACTA NEUROPATHOLOGICA, 1975, 33 (04) : 343 - 349
  • [27] A case of Netherton's syndrome diagnosed in two adult male siblings
    Flora, A.
    Zhao, C.
    Smith, A.
    [J]. AUSTRALASIAN JOURNAL OF DERMATOLOGY, 2021, 62 : 54 - 54
  • [28] Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood
    Flora, Akshay
    Smith, Annika
    [J]. CASE REPORTS IN DERMATOLOGY, 2020, 12 (01): : 64 - 69
  • [29] Two siblings diagnosed with epidermodysplasia verrusiformis: Case report Epidermodysplasia verrusiformis
    Karapinar, Tekden
    Erdogan, Hilal Kaya
    Bulur, Isil
    Saracoglu, Zeynep Nurhan
    Dundar, Emine
    [J]. GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, 2019, 17 (03): : 435 - 441
  • [30] Misdiagnosis in Lafora disease
    Machio Castello, M.
    Giraldez, B. G.
    Martinez Ulloa, P.
    Serratosa, J. M.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 620 - 620