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
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
  • [21] The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia
    Dobyns, William B.
    EPILEPSIA, 2010, 51 : 5 - 9
  • [22] EPENDYMAL ABNORMALITIES IN LISSENCEPHALY PACHYGYRIA
    SARNAT, HB
    DARWISH, HZ
    BARTH, PG
    TREVENEN, CL
    PINTO, A
    KOTAGAL, S
    SHISHIKURA, K
    OSAWA, M
    KOROBKIN, R
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1993, 52 (05) : 525 - 541
  • [23] Clinical Insight into Congenital Hypothyroidism Among Children
    Korkmaz, Hueseyin Anil
    CHILDREN-BASEL, 2025, 12 (01):
  • [24] Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid
    Camats, Nuria
    Baz-Redon, Noelia
    Fernandez-Cancio, Monica
    Clemente, Maria
    Campos-Martorell, Ariadna
    Jaimes, Nadya
    Antolin, Maria
    Garcia-Arumi, Elena
    Blasco-Perez, Laura
    Paramonov, Ida
    Mogas, Eduard
    Soler-Colomer, Laura
    Yeste, Diego
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2021, 106 (01) : E152 - E170
  • [25] Hypothyroidism presenting as a fissure tongue
    Mylaraiah, Ravishankar
    Sharma, Sangeeta
    Shalaby, Tamer
    CLINICAL CASE REPORTS, 2024, 12 (03):
  • [26] COMPENSATED HYPOTHYROIDISM PRESENTING WITH GALACTORRHEA
    SHILO, S
    HIRSCH, HJ
    JOURNAL OF INTERNAL MEDICINE, 1990, 228 (02) : 197 - 198
  • [27] Hypothyroidism presenting as acute abdomen
    Kumar, N
    Wheeler, MH
    POSTGRADUATE MEDICAL JOURNAL, 1997, 73 (860) : 373 - 374
  • [28] Pain as a presenting symptom of hypothyroidism
    Kumar, Nishant
    Kamal, Mrinal
    Kohli, Pramod
    JOURNAL OF ANAESTHESIOLOGY CLINICAL PHARMACOLOGY, 2024, 40 (03) : 535 - 537
  • [29] Thyroid hormone therapy in congenital hypothyroidism and pediatric hypothyroidism
    Andrew J. Bauer
    Ari J. Wassner
    Endocrine, 2019, 66 : 51 - 62
  • [30] Thyroid hormone therapy in congenital hypothyroidism and pediatric hypothyroidism
    Bauer, Andrew J.
    Wassner, Ari J.
    ENDOCRINE, 2019, 66 (01) : 51 - 62