Challenging diagnosis of Wilson's disease: A case report.

Wilson's disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson's is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n's disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Iron Deficiency Anaemia In Pakistan: Celiac Disease An Underlying Cause.

BACKGROUND: Iron deficiency anaemia (IDA) is common in Pakistani population and an important cause of morbidity. Celiac disease (CD) is an important contributor and its diagnosis is frequently missed especially if present in atypical/non-diarrhoeal form. Non-responders to iron replacement therapy typically raises suspicion of celiac disease as underlying cause. Aim of this study is to determine the frequency of CD in patients with IDA.. METHODS: A cross sectional study was conducted at tertiary health care centre Islamabad from 12th March to 12th September 2016. Two hundred & ninety patients of newly diagnosed IDA age more than 12 years, including both genders were selected trough non-probability purposive method. Patients with overt Blood loss (gastrointestinal, genitourinary, Pulmonary, recent Trauma or Surgery) were excluded. Active worm infestation and inadequate iron intake were also excluded. After informed consent, all the enrolled patients were investigated for presence of Anti-Tissue tansglutaminase antibody (Human Anti TTG IgA type) by ELISA in their serum at pathology laboratory of PIMS. RESULTS: Out of 290 patients of IDA 32 (11%) had celiac disease (p=0.0002), more common in younger age <40 years 24 (75%), predominantly in female 22 (68.75%), more prevailing in Kashmiri population 9(28.12%). CONCLUSIONS: Celiac disease is common in patients who present with IDA. Diagnosis of CD is frequently missed in the absence of classic features and IDA may be the only manifestation of CD..