An Unusual Presentation of Wilson's Disease

被引:0
|
作者
Kanitkar, Shubhangi [1 ]
Borle, Akshata [1 ]
Ahlawat, Muskaan [1 ]
Ande, Sai Priya [1 ]
Raut, Sandesh [1 ]
机构
[1] Dr DY Patil Med Coll Hosp & Res Ctr, Internal Med, Pune, Maharashtra, India
关键词
cirrhosis; young child; copper metabolism; kayser fleischer ring; wilson disease; DIAGNOSIS;
D O I
10.7759/cureus.58407
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Wilson's disease affects the metabolism of copper and is a rare hereditary disorder that is inherited autosomally recessively. The liver and brain are the main organs affected by this disorder, which causes progressive hepatolenticular degeneration. A 15-year-old male patient arrived at the outpatient department (OPD) with mild abdominal pain on the right side, and both eyes showed Kayser-Fleischer (KF) rings. An abdominal ultrasound showed that the spleen was enlarged. Copper levels in urine were found to be higher. After a liver biopsy, cirrhosis, and mild chronic active hepatitis were found. The majority of hematological indicators were normal; however, a peripheral blood smear revealed mild thrombocytopenia. Wilson's disease is uncommon, so diagnosing it requires a high degree of suspicion. In circumstances of inexplicable liver cirrhosis or isolated neurological symptoms, it could go unnoticed. The only primary complaint in the case being presented was abdominal pain. However, the age upon presentation, the existence of KF rings in both eyes, and other tests helped us get the diagnosis.
引用
收藏
页数:8
相关论文
共 50 条
  • [41] Possible Wilson's disease: A case presentation.
    Thompson, MD
    Bush, DS
    Bello, LE
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 1997, 12 (04) : 416 - 416
  • [42] Neuropsychiatric presentation of Wilson's disease - a case report
    Poniewierski, Kamil
    Dziezyc, Karolina
    Turek, Aleksander
    Krupa, Anna
    Chrobak, Adrian Andrzej
    Siwek, Marcin
    Czlonkowska, Anna
    Dudek, Dominika
    NEUROPSYCHIATRIA I NEUROPSYCHOLOGIA, 2018, 13 (01): : 31 - 42
  • [43] Wilson's disease presentation resembling autoimmune hepatitis
    Santos, Bruno Campos
    Guedes, Ludmila Resende
    Faria, Luciana Costa
    Couto, Claudia Alves
    BMJ CASE REPORTS, 2019, 12 (10)
  • [44] Rare presentation of Wilson's disease: A case report
    Vikram Kalra
    Sandeep Mahajan
    Pawan Kumar Kesarwani
    International Urology and Nephrology, 2004, 36 : 289 - 291
  • [45] Poncet's disease: unusual presentation of a common disease
    Arora, Shalabh
    Prakash, Turaka Vijay
    Carey, Ronald Albert
    Hansdak, Samuel George
    LANCET, 2016, 387 (10018): : 617 - 618
  • [46] An unusual cutaneous presentation of Hodgkin's disease
    De Grip, A
    Schofield, JB
    Shotton, JC
    JOURNAL OF LARYNGOLOGY AND OTOLOGY, 1999, 113 (08): : 765 - 768
  • [47] Dysphagia as an unusual presentation of Crohn's disease
    Sanchez, L
    Ortega, R
    REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS, 1998, 90 (09) : 673 - 674
  • [48] Unusual presentation of a patient with Cushing's disease
    Oliveira, MD
    Pizarro, CB
    Ferreira, NP
    Coutinho, LMB
    Wolff, H
    ENDOCRINOLOGIST, 1997, 7 (03): : 193 - 195
  • [49] Unusual presentation of metastatic Crohn's disease
    Ilangovan, Krithiga Rajagopal
    Yeo, Richard
    EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2008, 137 (02) : 259 - 259
  • [50] Unusual presentation of abdominal Castleman's disease
    Chuwa, W. L. E.
    Chuah, K. L.
    Ong, H. S.
    ASIAN JOURNAL OF SURGERY, 2006, 29 (03) : 153 - 156