ABSTRACT
Takayasu arteritis is a chronic, idiopathic, inflammatory disease mainly affecting medium and large vessels with a significant rate of morbidity and mortality. The vessels most frequently affected are the aorta and its branches; branches originating from the aortic arch include right brachiocephalic trunk and its branches, left common carotid artery, left subclavian artery, coronary arteries from the ascending aorta, celiac trunk, right and left renal arteries, superior and inferior mesenteric arteries from the descending aorta, and right and left iliofemoral arteries. Local and systemic inflammation along with end organ ischemia is attributed to severe clinical manifestations associated with this condition. Although Takayasu arteritis is more commonly diagnosed in adults, this study highlights the unusual occurrence of childhood-onset Takayasu arteritis (TAK), presenting a unique set of diagnostic challenges. We present a case of a seven-year-old female patient who manifested atypical symptoms, such as absent pulses and malignant hypertension at an early age, leading to a delayed diagnosis. The patient's clinical course, including diagnostic workup and imaging studies such as CT or MR angiography, is thoroughly discussed. This study emphasizes the importance of recognizing the subtleties of Takayasu arteritis in children. The disease may initially masquerade as other common conditions, such as peripheral arterial disease, coarctation of aorta, renal artery stenosis, chronic renal disease, and increased intracranial pressure, thereby hindering timely diagnosis and appropriate intervention. This case underscores the importance of considering Takayasu arteritis as a differential diagnosis in children, presenting with unexplained constitutional symptoms or signs of systemic vasculitis, emphasizing the need for multidisciplinary collaboration and tailored therapeutic intervention to optimize the outcome in this rare and potentially debilitating condition.
ABSTRACT
Congenital absence of patella is a rare orthopedic condition characterized by an underdeveloped or complete lack of patella. This condition is very rare in isolation and is usually accompanied by other genetic syndromes. The prevalence is difficult to estimate as very few cases of this condition have been reported worldwide. Here, we report a case of congenital bilateral absence of patella in an 18-month-old female child who came with a chief complaint of inability to stand and walk without support, with hyperextension at the knee joint with no other associated abnormalities. The patient was started with active and resisted physiotherapy sessions that alleviated the condition of our patient.
