A Rare Case of Multicentric Primary Pulmonary Artery Sarcoma: Eliminating the Masquerade with Multimodality Imaging.

A 68-year-old male presented with a short history of exertional dyspnea and a provisional diagnosis of pulmonary thromboembolism was made. However, chest radiograph and further investigations in the form of computed tomography pulmonary angiogram, magnetic resonance imaging of thorax, and whole body fluorodeoxyglucose (FDG) positron emission tomography-computed tomography revealed a large mass arising from the distal left pulmonary artery extending into adjacent lung and another lesion near the root of the main pulmonary artery, both of which showed post-contrast enhancement and intense FDG uptake. Tissue sampling by transthoracic computed tomography-guided biopsy and immunohistochemistry confirmed the diagnosis of pulmonary artery angiosarcoma. Here, we present such a case of very rare occurrence which, in view of multicentricity and substantial extension into adjacent lung, is the first of its kind to be reported, to the best of our knowledge.

Deep Learning Framework for Automatic Bone Age Assessment.

Bone age Assessment or the skeletal age is a general clinical practice to detect endocrine and metabolic disarrangement in child development. The bone age indicates the level of structural and biological growth better than chronological age calculated from the birth date. The X-Ray of the wrist and hand is used in common to estimate the bone age of a person. The degree of agreement among the automated methods used to evaluate the X-rays is more than any other manual method. In this work, we propose a fully automated deep learning approach for bone age assessment. The dataset used is from the 2017 Pediatric Bone Age Challenge released by the Radiological Society of North America. Each X-Ray image in this dataset is an image of a left hand tagged with the age and gender of the patient. Transfer learning is employed by using pre-trained neural network architecture. InceptionV3 architecture is used in the present work, and the difference between the actual and predicted age obtained is 5.921 months.Clinical Relevance- This provides an AI-based computer assistance system as a supplement tool to help clinicians make bone age predictions.

Altered Immune Reconstitution in Allogeneic Stem Cell Transplant Recipients With Human Immunodeficiency Virus (HIV).

BACKGROUND: Persons living with human immunodeficiency virus (HIV) are at elevated risk of developing the malignant diseases that require allogeneic stem cell transplantation (ASCT). Recent data suggest that these individuals are also at an elevated risk of certain complications post-ASCT. This risk may result from preexisting HIV-related factors affecting dynamics of immune reconstitution post-ASCT. However, to date, there has been little work describing the dynamics of immune reconstitution post-ASCT in persons with HIV and none comparing these data to controls without HIV. METHODS: We assessed T-cell reconstitution in 6 ASCT with HIV recipients (HIV+ASCT) compared to a control population of 21 ASCT without HIV recipients. In a subset of HIV+ASCT recipients we performed additional flow cytometry profiling of CD8+ T-cell subsets and antigen specificity of reconstituting CD4+ and CD8+ T cells. RESULTS: We observe no difference in post-ASCT CD4+ T cells between HIV+ASCT and HIV-negative ASCT recipients, despite much lower pre-ASCT CD4+ T-cell counts in the HIV+ASCT group. In contrast, we observed significantly higher CD8+ T-cell numbers in the HIV+ASCT group post-ASCT. The reconstituting CD8+ T-cells were predominantly CD45RO+, whereas homing markers and antigen specificity of these cells varied between participants. CONCLUSION: This study represents the most extensive characterization of immune-reconstitution post-ASCT in persons with HIV, and the first to our knowledge to compare these data to ASCT controls without HIV. The results indicate that immune reconstitution in this group can be affected by preexisting HIV infection and post-ASCT antigen exposure.

Familial Creutzfeldt-Jakob Disease in an Indian Kindred.

It is now known that the inherited prion disease is caused by over 60 different mutations in the Prion protein (PRNP) gene. Four missense mutations at codons 102, 178, 200 and 210, account for over 95% of these cases. In this study we describe, a large Indian family with familial Creutzfeldt Jakob Disease (fCJD). One affected member presented with a presenile dementia, a protracted clinical course and characateristic MRI features. Genetic analysis revealed a D178N mutation in the 2 affected individuals and 7 unaffected members. The neuropathological examination of the brain of one of the affected member was conspicuous by spongiform degeneration, neuronal loss and gliosis. This is a detailed report of a genetically and neuropathologically proven fCJD from India.

Coronary artery air embolism complicating a CT-guided percutaneous lung biopsy.

Coronary arterial air embolism is an extremely rare but readily recognizable condition on computed tomography (CT) that may complicate a lung biopsy. We present an incidence of symptomatic air embolism into the right coronary artery during a percutaneous CT-guided lung biopsy that was successfully recognized during the procedure and managed accordingly. An active search for this complication should be made when the patient deteriorates on table and the usual complications (pneumothorax, vasovagal shock, etc.) are ruled out, as immediate resuscitative measures could be life-saving.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive coxa vara. The causative gene is located on chromosome band 1q25-31. This gene encodes for "proteoglycan-4" (PRG-4), which is a surface lubricant for joints and tendons. This syndrome has distinct radiological and histological features, which are important to recognize since it may clinically mimic juvenile idiopathic arthritis and mutation studies may not be easily available. We describe a case of a 3-year 3-month-old female with features of CACP syndrome.

Menkes kinky hair syndrome: a rare neurodegenerative disease.

Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The initially seen asymmetric cortical and subcortical T2 hyperintensities in cerebral and cerebellar hemispheres converted into symmetrical diffuse cerebral and predominantly cerebellar atrophy with uniform loss of both white and grey matter on follow-up MRI. Also, subdural hemorrhages of various sizes and different stages and tortuosity of larger proximal intracranial vessels with distal narrowing were identified. Ours is a completely worked-up proven case of Menkes kinky hair disease (MKHD) with history, electroencephalography, biochemical, trichoanalysis, and MRI findings. This is a good teaching case and shows importance of clinical examination and biochemistry as complimentary to MRI. Tortuous intracranial arteries with blocked major vessels are found only in this disease, thus stressing the value of MR Angiography in these patients.

Magnetic Resonance-guided Focused Ultrasound Treatment for Uterine Fibroids: First Study in Indian Women.

OBJECTIVES: To study the results of magnetic resonance-guided focused ultrasound surgery (MRgFUS) treatment carried out on Indian patients in our Hospital. MATERIALS AND METHODS: Fifty Indian women (mean age = 36.2 ± 8.3 years) were treated for fibroids as outpatients using the ExAblate MRgFUS system (InSightec). Non-perfused volumes (NPVs) were measured immediately after treatment to calculate the treatment outcomes. A validated symptom-specific questionnaire to record their symptoms prior to treatment and six months following treatment was completed by patients. The size of the fibroids was measured on the day of the treatment and during the 6-month checkup to calculate shrinkage. Adverse events during and following treatment were recorded and monitored. RESULTS: The average NPV ratio measured after the treatment was 88% ± 6%, indicative of high ablated fibroid tissue. Prior to treatment, the mean Symptoms Severity Score was 56.9 ± 4.8 (n = 50), which is indicative of highly symptomatic patients. Six months following treatment, there was an average fibroid shrinkage of 30% ± 11%, and a significant decrease in the mean score to 28.6 ± 6.0 (n = 50) (P < 0.001). There were no reports of serious or unexpected adverse events at any point during treatment or during the follow-up period from any of the 50 women treated in the current study. CONCLUSIONS: The current results obtained after 6 months of treatment corroborated previous data on the safety and efficacy of MRgFUS for treating uterine fibroids. This is the first publication that provides such data for a large cohort of Indian women.

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)]. We present clinical, imaging and genetic data correlating phenotype-genotype relations. Four patients carried PANK2 mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent-onset cases. One of the four had a late-onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C>T, appears associated with a milder phenotype. Interestingly, he developed the eye-of-the-tiger sign only 10 years after onset. Two of the six presented with adult-onset levodopa (L-dopa)-responsive asymmetric re-emergent rest tremor, developing L-dopa-induced dyskinesias, and good benefit to deep brain stimulation (in one), thus resembling Parkinson's disease (PD). Both had an eye-of-the-tiger sign on MRI but were negative for known NBIA-associated genes, suggesting the existence of further genetic or sporadic forms of NBIA syndromes. In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of PANK2 and novel mutations. The phenotype of NBIA of unknown cause includes a PD-like presentation.

Multiple cranial nerve enhancement: uncommon imaging finding in early infantile Krabbe's disease.

Multiple cranial nerve enhancement in early infantile Krabbe's disease is an uncommon imaging finding. We present an 8-month-old infant with early infantile Krabbe's disease with enhancement of multiple cranial nerves and optic nerve hypertrophy.

Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.

BACKGROUND: Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination. Clinical findings include seizures, ataxia, alopecia and dermatitis with atypical findings of myoclonic jerks, neuropathy and spastic paraparesis. Neuroradiological findings include cerebral atrophy, encephalopathy and widened extracerebral CSF spaces. Many of the clinical and neuroradiological features are reversible except sensorineural hearing loss and optic atrophy. OBJECTIVE: To understand and describe the neuroimaging and spectroscopic findings of biotinidase deficiency. MATERIALS AND METHODS: We evaluated the spectrum of neuroimaging and spectroscopic findings in four patients with biotinidase deficiency with follow-up studies in three patients. RESULTS: The imaging findings were encephalopathy, low cerebral volume, ventriculomegaly and widened extracerebral CSF spaces. Uncommon findings were caudate involvement, parieto-occipital cortical abnormalities and one patient with restricted diffusion. Two patients had subdural effusions, which is uncommon in biotinidase deficiency. 1H-MR spectroscopy revealed elevated lactate, reversal of the choline/creatine ratio and decreased NAA peaks. Follow-up studies revealed complete reversal of imaging findings in two patients. CONCLUSION: Biotinidase deficiency is a reversible metabolic encephalopathy. This study highlights the importance of early and prompt cliniconeuroradiological diagnosis of biotinidase deficiency as it has an extremely good clinical outcome if treatment is initiated from early infancy.

Reversible Parkinsonism and T1W pallidal hyperintensities in acute liver failure.

We report on a young woman who survived acute liver failure (ALF) without liver transplant. During the ALF, she developed a disabling, levodopa-unresponsive, symmetrical Parkinsonism. This was characterized by severe bradykinesia, mild rigidity, mutism, and prominent gait impairment. Magnetic resonance imaging (MRI) showed bilateral T1W pallidal hyperintensities. Parkinsonism and MRI changes remitted in parallel with normalization of hepatic function. We implicate excessive pallidal manganese deposition secondary to ALF in the pathogenesis of this neuroradiological syndrome. Though hitherto unreported, we propose that Parkinsonism with T1W pallidal hyperintensities may not be uncommon in ALF.

Non-infantile variant of desmoplastic ganglioglioma: a report of 2 cases.

Desmoplastic infantile gangliogliomas (DIGs) are uncommon supratentorial brain tumors with a usually good prognosis despite an aggressive radiological appearance. These tumors form part of a spectrum of desmoplastic infantile tumors that includes desmoplastic infantile astrocytomas. DIGs are classified as benign WHO grade I tumors of infancy. Non-infantile variants of this biologically benign intracranial neoplasm are rare, with only four previous case reports in the literature. We report two cases of non-infantile DIG diagnosed at our institution on the basis of clinical features, radiological appearance and histological findings.

Two cases of anomalous origins of left coronary artery with a course between the aortic root and the free standing subpulmonary infundibulum on CT coronary angiography.

Two cases of anomalous origins of the left coronary artery have been demonstrated on a CT coronary angiogram. In one case the left main coronary artery arose from the right aortic sinus of valsalva, separate from the right coronary artery. In the second case there was a single coronary artery arising from the right aortic sinus of valsalva. In both these rare cases, the left main coronary artery traversed between the aortic root and the freestanding subpulmonary infundibulum and then divided into its regular branches. These cases show well, the left main artery actually coursing free of the crista supraventricularis portion of the outlet septum. This is contrary to the commonly used classifications and descriptions, which describe the anomalous coronary artery actually traversing through the outlet septum.

Childhood ataxia with cerebral hypomyelination (CACH) syndrome: a study of three siblings.

We report a family of three siblings with Childhood Ataxia with Cerebral Hypomyelination. All the siblings presented with early onset cerebellar ataxia beginning around five years of age with mild mental retardation. MRI showed diffuse white matter signal changes in all three patients with cerebellar atrophy while the spectroscopy was abnormal only in the eldest who was the most severely affected. The cases are reported for their rarity as well as for an opportunity of observing this uncommon disease in its stages of evolution in three siblings.

Infected necrosis complicating acute pancreatitis: experience with 131 cases.

OBJECTIVE: Despite advances in its management, the mortality of infected pancreatic necrosis (IPN) remains high. We report our observations on complications and treatment of IPN. METHODS: We studied 131 patients with IPN seen over a 20-year period. Infection, suspected clinically, was proved by presence of extraluminal air on CT scan (23 cases), or by guided percutaneous aspiration of fluid or solid necrotic tissue, and bacteriological studies of the aspirate. Apart from organ support, vigorous nutritional support and appropriate antibiotic therapy were instituted. Evacuation of pus and surgical necrosectomy was done. Feeding jejunostomy was done in the majority of patients. RESULTS: Postoperative complications included multiple organ dysfunction syndrome (MODS; n=40, in addition to 65 with pre-operative MODS), pancreatic fistula (69), gastrointestinal fistula (24), and severe extra-intestinal bleeding (8 patients). Pancreatic fistula developed in 30 of 63 patients who received octreotide and in 39 of 68 patients who did not (p=ns). Forty-five patients died. Of 35 patients who underwent surgery within 15 days of the onset of acute necrotizing pancreatitis, 21 (60%) died; in comparison, of the 96 patients who underwent surgery more than 15 days after onset, 24 (25%) died (p<0.002). Mortality was higher among those with serum albumin less than 2.5 g/dL than in those with albumin above 2.5 g/dL (20/36 versus 25/95; p=0.002), and in those with MODS (43/105) than in those without (2/26; p=0.001). CONCLUSIONS: Complications of IPN include MODS (pre- or post-operative), gastrointestinal and pancreatic fistula, and extra-intestinal bleeding. Serum albumin below 2.5 g/dL, development of MODS and need for early surgery appear to be unfavorable features associated with higher mortality.

Magnetic resonance imaging findings in an unusual case of atlanto axial dislocation and vertebral artery-vein fistulas in a patient of neurofibromatosis-1.

Vertebral arteriovenous fistulas are uncommon in neurofibromatosis. We describe MRI findings of a patient with an unusual association of bilateral vertebral arteriovenous fistulas with an atlantoaxial dislocation in the setting of neurofibromatosis.