Introduction: Wilson disease (WD),which is characterized by chronic hepatic inflammation and central nervous system (CNS) disorder, is caused by various mutations on ATP7B .This genetic disorder induces abnormal copper metabolism and its deposition in multiple organs. Considering the increasing role of molecular biology in the diagnosis of WD, mapping the whole mutations of ATP7B is mandatory. Methods: In search for the mutation pattern of ATP7B in Iran for the first time, 30 patients were selected depending on known clinical and para-clinical criteria. Their DNA was extracted and sent for the laboratory study. Results: The patients with a mean age of 16 years old were suffering from hepatic (90%) and CNS (50%) symptoms. The mutation profile in Iranian people was completely different from European population and some new mutations were reported (e.g. (1232)3696 Del; 51392). Discussion: With respect to the wide geographic variation in mutations of ATP7B, using genetic probes for diagnosis and screening of WD is not convenient. Before the availability of commercial diagnostic tools for this purpose, knowledge of the whole mutation map of ATP7B and its phenotypic correlation is indispensable. During this study we found and reported new mutations of ATP7B.

A 15-year-old boy was diagnosed with Wilson disease and referred to a physiotherapy clinic for treatment. He received daily physical therapy exercises with resistance training three times a week for 70 minutes for 8 weeks. The performance of daily activities was evaluated using the Persian version of the disabilities of the arm, shoulder, and hand (DASH) questionnaire. Upper limb muscle strength was assessed using a manual muscle strength test. The DASH questionnaire score decreased from 67. 24 before treatment to 46. 55 after 4 weeks and 36. 20 after 8 weeks. In addition, shoulder flexion and extension are improved. The analysis of resistance exercises to facilitate distal muscles through the use of manual muscle tests showed an improvement in the strength of both hands. The present study suggests that regular physical therapy and exercise may help improve daily activity and muscle strength in Wilson disease.

Objective: Wilson disease (WD) is an inherited copper metabolism dysfunction disease characterized by cirrhosis and CNS findings. Wilson disease is important because it is fatal not recognized and treated. Our Goa of study is to investigate the clinical signs and symptoms, lab results and other relevant matters in our patients in order to obtain a better understanding of this potentially lethal disease in our country.Materials & Methods: We have evaluated 21 cases of children with Wilson disease who were referred to Loghman and Imam Hussein Hospital between years 1998-2005. The mean age of our patients was 9 years.Results: The presenting symptom was ascites and extremity edema in 6(28.5%) patients, behavioral changes or neurological signs in 5(24%) simultaneous Ascites and icter in 9(43%) patients and in one patient the presenting manifestation was hemolytic anemia (4.8%). One of our patients died because of fulminant hepatitis in the course of admission (4.8%).Conclusion: We showed in this study that Wilson disease can be presented by a manifold symptom in children and adolescence. Having a good concept of these symptoms in high clinical suspicious are required to diagnose this potentially lethal disease at the proper time in order to decrease the potential adverse effects of the disease especially the neuropsychiatric damages significantly.

New Page 1 Rickets by definition is a condition in which the bone mineralization is defective. Among the large cause of Rickets (Vitamin D deficiency, gastrointestinal disorders, acidosis, renal tubular abnormalities...), Wilsons disease is a relatively rare cause. There are few cases of Wilsons disease presenting first as rickets in the literature. Here we present an Afghan girl with Wilsons disease presenting with intractable Rickets.

Introduction: Wilson’, s disease (WD) is a hereditary autosomal recessive disorder caused by pathogenic variants within the ATP7B gene. Early diagnosis of WD is important but it can be difficult in pediatric clinical practice because of varied presentations. Fortunately, with the development of genetic testing, molecular analysis of the ATP7B gene is helpful in the early diagnosis of WD. Hepatogenous diabetes (HD) is defined as a state of impaired glucose regulation caused by chronic liver disease. Here we report a child with WD with HD. Case Presentation: A 4-year-old girl was admitted to our hospital with diarrhea for two months. On admission, urine glucose was 4+, fasting glucose was 2. 6 mmol/L, and postprandial blood glucose was 7. 2 mmol/L. Further clinical manifestations and laboratory tests showed coagulation dysfunction, hemolytic anemia, and cirrhosis. After admission, she developed hepatic encephalopathy. Significant abnormal glucose metabolism was later detected, but by then, hypoglycemic convulsions had taken place. The final diagnosis of WDwas confirmed by detection of mutations in the ATP7B gene. Genetic sequencing revealed compound heterozygous mutations in ATP7B, including c. 2975C>T, p. Pro992Leu and c. 3809A>G, p. Asn1270Ser. On day 40 of admission, the patient underwent successful orthotopic liver transplantation. Her liver function, blood glucose levels, and coagulation test results returned to normal one month after the liver transplantation. The symptom of diarrhea was also relieved after surgery. Her abnormal glucose level in hospital was considered to be HD. Conclusions: Blood glucose levels must be carefully monitored in Wilson’, s disease. Moreover, genetic sequencing provides an accurate and minimally invasive diagnostic tool for WD.

Wilson’ s disease is a rare hereditary disorder passed down in the autosomal recessive way. This disorder involves the speech parts of the brain leading to dysarthria, which impairs all of the five speech systems, i. e. the respiratory, phonation, articulation, resonance, and prosody. The patient studied in this research was a 28-year-old woman with Wilson’ s disease, who visited Rofaydeh Rehabilitation Hospital in Tehran City with complaints about severe speech disorders. Based on the clinical and paraclinical examinations the patient was diagnosed with a decrease in the maximum phonation time (MPT) of 2 to 3 seconds, reduced intelligibility and articulation impairment. The patient underwent medicinal, behavioral, and rehabilitation (include speech therapy) treatments. Following a continuous two-year follow-up rehabilitation, a considerable improvement in the speech was observed as an increase in intelligibility (up to 5% of the words), the consistency between respiration and speech and an increase in verbal and nonverbal communications.

Pregnancy in a woman with Wilson disease (WD) can cause pre-eclampsia, miscarriage, and preterm labor and causes hepatic, neurologic, and hematologic complications aside from pregnancy-related difficulties. A 30-year-old female was brought to the emergency room (ER) in her 38th gestational week (GW) with the chief complaint of left foot swelling and weight gain. Aside from a platelet count of about 73000, the rest of the assessment and findings were normal. Regarding the reassurance of the platelet count and holding the medical treatment, throughout the vaginal delivery, a child with Apgar of 9-10 was delivered. WD in pregnancy tends to have complications, thus patient management and how the patient is treated are critical.

Background: Primary manifestations of Wilson’s disease are diverse and may cause delayed diagnosis of the disease which will in turn defer treatment and result in subsequent neurologic and gastrointestinal complications such as dysphagia.Case Report: The patient was a 15-year-old boy who had been visited by several gastroenterologists because of dysphagia and sialorrhea. He had been prescribed with different drugs. Upper gastrointestinal tract radiography and two endoscopies were performed. After all clinical manifestations, low serum ceruloplasmin, low copper, high 24-hour copper excretion, and Kayser-Fleischer rings led to diagnosis of Wilson’s disease. Treatment by D-penicillamine was started.Dysphagia was cured after a few days of treatment. Neurologic symptoms improved following one two weeks of treatment.Conclusion: Early diagnosis of Wilson’s disease when different manifestations are present may help in prevention of neurologic and gastrointestinal complications.