Radiological impact of oral bisphosphonate use on polyostotic Paget's disease of bone over a 2 year period.

Paget's disease of bone is a disorder of osteoclasts which hampers the physiological process of bone remodeling. It is the most common metabolic orthopedic disease in the Caucasian populace; we report the diagnosis of Paget's disease of bone in a South-Asian male in his early 50s with a history of gastrointestinal symptoms, weight loss and back pain. An alkaline phosphatase level of 1104 IU/L was noted. A 3-phase bone scan showed noncontiguous heterogenous nuclear uptake. After exhaustive evaluation, the patient was diagnosed with Paget's disease of bone. Despite the disease activity being mitigated by alendronate and monitored by ALP levels within normal range per protocol, the patient had compression fractures of the vertebrae requiring early reinitiation of oral bisphosphonates. This raised doubts about the efficacy of metabolic marker-based management in Paget's disease of bone.

Isolated unilateral pulmonary artery atresia in an adult presenting with cor pulmonale.

Unilateral pulmonary artery atresia (UPAA) is a rare embryonic vascular malformation, leading to general presentations of exertional dyspnoea, pneumonia and haemoptysis. Our patient, a man in his early 30s, presented with a history of progressive breathlessness over a period of 2 years. History showed multiple admissions for pneumonia over his childhood and adolescence. Physical examination revealed a loud P2, an ejection systolic murmur and coarse crepitations in multiple lung fields. Severe pulmonary artery hypertension was noted on two-dimensional echocardiography. CT studies confirmed right pulmonary artery atresia with aspergilloma and bronchiectasis. With this diagnosis of UPAA, this case report intends to raise awareness among clinicians to consider this as a rare cause of cor pulmonale in an adult.

Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of subarachnoid space in infancy.

Schimmelpenning-Feuerstein-Mims syndrome is a rare disorder generally characterised by a craniofacial nevus with multisystemic presentations. Our patient, an infant, was brought to the emergency department in a postictal state following a first seizure episode. A physical examination showed a solitary dark brown, well-demarcated verrucous plaque extending from the patient's left temporal region to the left mandible without crossing the midline. Epibulbar choristomas were present on the ipsilateral side of the craniofacial lesion. Neuroimaging showed benign enlargement of the subarachnoid space. Due to the known risk of seizures associated with this condition, the patient was started on levetiracetam and showed adequate compliance. We present this as the first reported case of Schimmelpenning-Feuerstein-Mims syndrome with benign enlargement of the subarachnoid space in an infant presenting with seizures to emphasise the value of collaboration among multidisciplinary professionals to improve the quality of care for such patients.

Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy.

Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with signs of hypertensive encephalopathy. Physical examination showed arcus cornealis, planar xanthomas and tuberous xanthomas. After appropriate investigations, a direct aetiology of the hypertension could not be elucidated; however, our patient's hypertension resolved with the reduction in serum lipid levels. ß-hydroxy ß-methylglutaryl coenzyme A reductase and cholesterol absorption inhibitors were administered as first-line treatment. A significant proportion of patients with HoFH continue to have elevated LDL-C levels, thereby requiring second-line agents, such as proprotein convertase subtilisin/kexin type inhibitors (evolocumab), microsomal triglyceride transfer protein inhibitors (lomitapide) and angiopoietin-like protein inhibitors (evinacumab). This case report aimed to raise awareness among paediatricians to consider HoFH as a possible aetiology in a child presenting with hypertension and suggestive physical findings.

Clustered Incidence of Leukocytoclastic Vasculitis and Purpura Fulminans: A Case Series of a Rare Dermatological Manifestation of Rickettsial Disease.

Rickettsiae are a group of eukaryotic obligatory intracellular parasites with ticks and mites as vectors. Rickettsia conorii is the Indian counterpart of Rocky Mountain spotted fever causing the endemic variant - Indian tick typhus. This disease can cause severe illness in adults and children and can be missed despite the availability of serological tests. Initial screening for rickettsial diseases (RD) may include blood workup and a non-specific agglutination test, Weil-Felix (WF). In WF, agglutination against Proteus antigens is analyzed and can show false-negative results within the first week of presentation. Delayed immune reaction in patients with RD in the first week could also be responsible for negative specific IgM serology. The challenge for physicians is to differentiate between the two common diagnoses for fever with rash - viral exanthematous fever and rickettsial fever. By its endothelial cell tropism, RD rarely can lead to purpura fulminans, which is characterized by widespread progressive dermal vascular necrosis and hemorrhage. This case series demonstrates dermatologic presentations of rickettsial fever in three individuals from the same neighborhood within the same week. Based on serologic IgM levels, the patients were treated with doxycycline and made a full recovery. This case series aimed to highlight the need for awareness regarding the variable presentations of rickettsial fever including leukocytoclastic vasculitis and purpura fulminans.