Diagnosis
Basophilia can be detected through a complete blood count (CBC). The root cause of basophilia can be determined through a bone marrow biopsy, genetic testing to look for genetic mutations, or ultrasound to determine enlargement of the spleen. A bone marrow aspirate may be utilized to confirm an increase in basophils or significantly high numbers of precursors to the granulocytes. Since basophilia is present in a vast range of clinical conditions, depending on a variety of underlying causes, supplemental signs and symptoms must be investigated for a diagnosis. If splenomegaly is detected, a myeloproliferative syndrome may be suspected. Intrinsically related symptoms such as fever, malaise, pruritus (itching) due to the release of histamine, fatigue, and right upper quadrant pain may be present in the afflicted patient. With some conditions, such as polycythemia vera, erythromelalgia, or burning of the palms and soles, coupled with thrombocytosis is common. This severe symptomatology may require urgent attention. If basophilia and the aforementioned symptoms are present with concurrent eosinophilia greater than 1500 cells/μL, hypereosinophilic syndrome may be considered. In cases of underlying allergic reactions or adverse sensitivity, skin rashes may be present.After symptomatic evaluation, a peripheral blood smear is examined in order to determine cell counts.In cases of a supposed myeloid neoplasm, a bone marrow biopsy will be performed utilizing cytogenetic analysis. This type of testing utilizes the karyotypes of chromosomes for each type of leukocyte and looks for a significant abnormality in any of the conventional karyotypes which could support the diagnosis of a neoplastic process.
Macular corneal dystrophy, also known as Fehr corneal dystrophy named for German ophthalmologist Oskar Fehr (1871-1959), is a rare pathological condition affecting the stroma of cornea. The first signs are usually noticed in the first decade of life, and progress afterwards, with opacities developing in the cornea and attacks of pain. The condition was first described by Arthur Groenouw in 1890. Signs and symptoms
Onset occurs in the first decade, usually between ages 5 and 9. The disorder is progressive, vision changes with ageing from 2nd decade to 3rd visual impairment may seen in 4th and 5th decade severe visual impairment can be seen Minute, gray, punctate opacities develop. Corneal sensitivity is usually reduced. Painful attacks with photophobia, foreign body sensations, and recurrent erosions occur in most patients. Macular corneal dystrophy is very common in Iceland and accounts for almost one-third of all corneal grafts performed there. Genetics
Macular corneal dystrophy is inherited in autosomal recessive fashion and is thought to be caused by the lack or abnormal configuration of keratan sulfate. Most cases of MCD are caused by mutations in CHST6 gene.The gene CHST6 is a carbohydrate sulfotransferase encoding an enzyme designated corneal N-acetylglucosamine-6-sulfotransferase. In MCD type I, various mutations lead to inactivation of the enzyme, in MCD type II, inactivation is caused by large deletions and/or replacements in the gene. Diagnosis
Treatment
Corneal transplantation is often required. See also
Corneal dystrophy

References


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