Journal des rapports de cas cliniques

Background: Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings and/or ATP7B genetic testing are required to diagnose Wilson’s disease. Case presentation: 25-year-old and 22-year-old young women (siblings) presented to University of Gondar hospital, Northwest Ethiopia, with difficulty of keeping balance of 3 years duration and progressive extremity weakness of 5 years duration respectively. Both siblings had visible ocular Kayser-Fleischer rings, low serum ceruloplasmin level and increased urinary copper content, ultrasoundevidenced cirrhotic liver disease and axial T2- weighted MRI hyperintensities in both basal ganglia and brainstem (mid brain and pons). Diagnosis of Wilson’s disease was established in both patients using diagnostic scoring system proposed by ‘8th International Meeting on Wilson disease and Menkes disease, Leipzig (2001)’. Treatment with D-Penicillamine as chelator and Zinc sulphate as metalothionein-inductor was started. Screening of their family members was recommended. Conclusion: Wilson’s disease, declared to be an orphan disease, requires clinical acumen of physicians and expensive investigation modalities for prompt recognition and inaccessible as required, lifelong drugs for treatment.

A fecalith is a mass of accumulated hardened fecal matter that commonly arises in the sigmoid colon, the rectum and very rarely in the small intestine. Fecaliths may often present as benign obstructions and can lead to more serious complications such as persistent obstruction leading to bowel perforation. As a result, fecaliths may present similarly to malignant lesions that may be fixated to the gastrointestinal mucosa, such as gastrointestinal stromal tumors (GIST).

Pyogenic granuloma (PG) is a benign, rapidly growing, eruptive hemangioma that often bleeds and ulcerates. Common causes are mechanical trauma and cast immobilization. Drugs such as retinoids and antineoplastic agents are sometimes involved. We report here five cases of pyogenic granuloma probabely associated with either antipsychotic or antiepileptic drugs.

Miller Fisher syndrome (MFS) is a rare, and milder, variant of Guillain-Barre syndrome (GBS) that is characterized by ophthalmoplegia, areflexia, and ataxia, with the additional possibility of limb weakness. There is not a specific demographic or common situation in which MFS is usually seen. This paper details a suspected case of MFS in a 59 year-old male with concurrent influenza infection. He had been experiencing progressive flu-like symptoms a few days prior to the onset of his neurological symptoms, presenting to the hospital with diplopia and paresthesias of his extremities. His physical exam on admission revealed areflexia and gait instability, as well as oculomotor nerve palsies that were causing his diplopia. After running tests to rule out other possible causes of his presentation, along with having a positive influenza A test, he was diagnosed with MFS and started on intravenous immunoglobulin (IVIG). His symptoms resolved by the end of the treatment course. Based on his presentation and resolution of symptoms, this would be one of the few reported cases of MFS following influenza A infection.

Acromegaly is caused by hypersecretion of growth hormone. Approximately 95% of cases of acromegaly are caused by pituitary adenoma, whereas less than 5% of cases are attributed to GH releasing hormone (GHRH) -secreting tumor or neuroendocrine tumor. Hyperprolactinemia is found in about 30-40% of acromegalic patients.

Anaemia is a condition of multifactorial basis that affects about 25% of world population. Sudden loss of 50% of blood leads to death due to hypovolemic shock, but chronic longstanding non-significant bleeding without rapid decrease in haemoglobin level can be tolerated and compensated for a very long period. In this case report we present a 40-year-old fully conscious female with abdominal pain which was manifested with haemoglobin level of 1.8 g/dl.