Lissencephaly presenting with congenital hypothyroidism

被引：1
|
作者：
Kumar, Suresh [1 ]
Suthar, Renu [1 ]
Panigrahi, Inusha [1 ]
Marwaha, Ram Kumar [1 ]
机构：
[1] Postgrad Inst Med Educ & Res, Dept Pediat, Adv Pediat Ctr, Chandigarh 160012, India
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2013年 / 26卷 / 11-12期
关键词：
dysmorphism; hypothyroidism; lissencephaly; Miller-Dieker syndrome; Norman-Roberts syndrome; MILLER-DIEKER SYNDROME; NEURONAL MIGRATION; DISORDERS; MUTATIONS; LIS1;
D O I：
10.1515/jpem-2013-0102
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Lissencephaly is a rare brain malformation characterized by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration. Association of congenital hypothyroidism with lissencephaly is seldom reported. We report a case of lissencephaly with congenital hypothyroidism.
引用
收藏
页码：1175 / 1177
页数：3
相关论文
共 50 条
  • [41] Approach to the Patient With Congenital Hypothyroidism
    Stoupa, Athanasia
    Kariyawasam, Dulanjalee
    Quoc, Adrien Nguyen
    Polak, Michel
    Carre, Aurore
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, 107 (12) : 3418 - 3427
  • [42] Genetics of Primary Congenital Hypothyroidism
    Zwaveling-Soonawala, Nitash
    van Trotsenburg, Paul
    PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2018, 15 (03) : 200 - 215
  • [43] Detection and treatment of congenital hypothyroidism
    Grueters, Annette
    Krude, Heiko
    NATURE REVIEWS ENDOCRINOLOGY, 2012, 8 (02) : 104 - 113
  • [44] Congenital hypothyroidism: recent advances
    Wassner, Ari J.
    Brown, Rosalind S.
    CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY, 2015, 22 (05) : 407 - 412
  • [45] TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism
    Zwaveling-Soonawala, Nitash
    van Trotsenburg, A. S. Paul
    Verkerk, Paul H.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2018, 103 (04) : 1342 - 1348
  • [46] Lissencephaly in a Pekingese
    Shimbo, Genya
    Tagawa, Michihito
    Oohashi, Eiji
    Yanagawa, Masashi
    Miyahara, Kazuro
    JOURNAL OF VETERINARY MEDICAL SCIENCE, 2017, 79 (10) : 1694 - 1697
  • [47] Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia
    Christopher, Rita
    Devi, A. Radha Rama
    Kabra, Madhulika
    Kapoor, Seema
    Mathur, Roli
    Muranjan, Mamta
    Nigam, Puneet K.
    Pandey, R. M.
    Singh, Arun
    Suresh, S.
    INDIAN JOURNAL OF PEDIATRICS, 2018, 85 (11) : 935 - 940
  • [48] Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures
    T. Kamida
    T. Maruyama
    M. Fujiki
    H. Kobayashi
    T. Izumi
    H. Baba
    Child's Nervous System, 2005, 21 : 1056 - 1060
  • [49] Hypothyroidism presenting as intestinal pseudoobstruction.
    Pérez, RP
    Peláez, RP
    Peña, JG
    Rodríguez, CG
    REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS, 1998, 90 (12) : 887 - 888
  • [50] HYPOTHYROIDISM PRESENTING WITH CARDIAC-TAMPONADE
    QUIN, JD
    MCDONALD, A
    RUSSELL, R
    THOMSON, JA
    SCOTTISH MEDICAL JOURNAL, 1994, 39 (03) : 82 - 82
12345