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.

Fahr's disease in a patient with recurrent pneumonias, parkinsonism and dementia.

Fahr's disease is a rare condition characterised by the presence of idiopathic familial bilateral basal ganglia calcifications, transmitted in an autosomal-dominant fashion. Diagnosis is based on clinical features of neuropsychiatric and somatic symptoms in conjunction with radiological findings. Our patient, a man in his early 50s, presented with pneumonia. History was significant for five admissions in the last 2 years for pneumonia and falls, with gradual cognitive and motor decline since his late 30s. Hypophonia, bradykinesia and dementia were noted on examination. CT of the brain revealed bilateral thalamic calcinosis, consistent with Fahr's syndrome. Further investigations and retrospective history taking, and similar radiological findings within first-degree and second-degree relatives with early deaths, transitioned the diagnosis from Fahr's syndrome to Fahr's disease. We present this case of Fahr's disease to emphasise the value of collaboration among multidisciplinary professionals to improve quality of care for such patients.

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.

Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia.

Congenital dyserythropoietic anaemia (CDA) type II is a rare disease characterised by inefficient erythropoiesis and mononuclear cytopenia. Patients generally present with extravascular haemolytic anaemia, jaundice and splenomegaly. A female patient in her mid-teens presented with severe anaemia and abdominal distention. Medical history was significant for the diagnosis of ß-thalassaemia intermedia made in her infancy. However, subsequent investigations showed normal reticulocyte counts that were disproportionate to the severity of her anaemia and a negative ß-thalassemia mutation analysis, leading to concerns about a specific lineage disorder. A bone marrow trephine showed features typical of CDA type II-erythroid hyperplasia with multiple binucleate erythrocytes. CDA type II has often been mistaken for other congenital or acquired forms of anaemia; this case report intends to raise awareness among clinicians to consider CDA type II as a rare but possible cause of severe anaemia in a teenager with a previous presumptive diagnosis of ß-thalassaemia .

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.

Kimura's disease of the left arm.

Kimura's disease is a rare, benign entity that causes subcutaneous angioblastic lymphoid hyperplasia with eosinophilia. It usually presents with subcutaneous lymphoid swellings with regional lymphadenopathy and salivary gland masses. Kimura's disease is frequently associated with renal involvement, which includes proteinuria and nephrotic syndrome as the most common presentations. This report presents a case of a man in his early 20s with a swelling in the medial aspect of the distal left arm with two previous episodes of nephrotic syndrome. Multiple enlarged axillary lymph nodes and epitrochlear nodes were noted. Ultrasonography revealed a mixed echogenic mass with enlarged lymph nodes. MRI showed a heterogeneous hyperintense lesion. Image-guided fine-needle aspiration showed multiple lymphocytes and eosinophils suggestive of Kimura's disease. The swelling was surgically excised under general anaesthesia. Histopathology of the excised mass confirmed the diagnosis of Kimura's disease.