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Congenital Pseudo-Arthrosis of the Tibia in Patients with Neurofibromatosis Type 1: Case Series and Review of Literatures

DOI : https://doi.org/10.36349/easjop.2022.v04i04.002
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The term congenital pseudo-arthrosis of the tibia is a misnomer, as it is usually not present at birth but clinically manifest within the first decade of life. It is nonetheless a rare disease with yet a poorly understood natural history having varying presentations, which possess a great challenge of both diagnosis and management. It is however, a documented fact that 50% of these patients have neurofibromatosis type 1 and thus, a careful study and understanding of this condition as it present in patients with neurofibromatosis type 1 will also expose more about the disease entity itself, aid clinicians in making early diagnosis and tailor down a definitive treatment scheme which will help in limb salvage and prevent subsequent limb amputations amongst other complications. Here, we present a case series of two patients each with features of neurofibromatosis type 1, presenting with pseudo-arthrosis of the tibia. First patient is a 14-year old girl who presented with right leg deformity, multiple skin freckles and café au lait macula lesions on the body. Lower limb deformity was noticed since patient was 6-years of age following a minor fall at home, she has had multiple trial of local splinting of the limb and conservative non-surgical management of the limb deformity/fracture also in a peripheral hospital which has also failed and the deformity has persisted since then, she subsequently develops freckles which was noticed initially from the hand and progresses to cover the whole body including the palms and sole of the foot. On examination, she was stunted for age, not in any distress, anicteric not pale, with freckles covering the whole body, and macula café au lait spots around the upper back and thoracic region. There is an obvious deformity of the right leg, pseudo-arthrosis above the ankle joint and the right foot is under developed compared to the left foot. The second patient is a 4-year old.

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Dr. Afroza Begum

Lecturer, Dept. of Pharmacology and Therapeutics, Shaheed Monsur Ali Medical College & Hospital, Uttara, Dhaka-1230, Bangladesh

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