Objective: The incidence and range of rare hereditary bleeding diseases, as well the severity deficiency its many clinical presentations, were subjects our study. Study Design: Cross-sectional study Place Duration: Department Pathology, Northwest School Medicine Peshawar in duration from July, 2022 to December, 2022. Methods: Total 850 cases coagulation disorders presented this A thorough demog...

Leber's Hereditary Optic Neuropathy is a rare disease caused by mutation in the mitochondrial DNA. It appears most often young men, leading to profound, permanent loss of vision short time. There no specific treatment for this condition.Idebenone medicine that administered patients with hereditary optic neuropathy improves or stops deterioration vision. Increasing number people during therapy a...

AIM The aim of this report is to present a case of Glanzmann thrombasthenia (GT) with oral manifestations requiring periodontal management along with a discussion of the clinical, hematologic, and molecular level features of the disease. BACKGROUND GT is a rare hematological disorder with oral manifestations affecting platelets and clotting. It is characterized by spontaneous bleeding from mu...

Factor X deficiency (also known as Stuart-Prower factor deficiency) is an extremely rare hereditary hematologic disorder, affecting 1 person in 2 million. The gene causing this condition is autosomal recessive; thus, only those inheriting from both parents exhibit clinical symptoms, such as moderate bleeding, easy bruising and subcutaneous bleeding from mucous membranes. Patients with marked de...

the authors describe two interesting and seldom cases of atrophia gyrata j and believe it to be a congenital hereditary disease with a recessive character. like retinitis pigmentosa, it does not affect the central posterior parts of the retina but the lesions are around the periphery. the visual fields are narrowed. they discuss; the similarity of this disease with atrophia gyrata described by ...

WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

BACKGROUND: Osler-Weber-Rendu syndrome (Hereditary hemorrhagic telengiectasia) cases present with recurrent epistaxis, gastrointestinal bleeding (hematemesis, melena), and arteriovenous malformations involving almost all organs of body. Internal can occur from (telengiectasia) stomach or small bowel. CASE PRESENTATION: We a case who presented melena gross anemia (hemoglobin 3.5 gm/dL). He was a...