Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/1/ajmga37794.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/2/ajmga37794-sup-0001-SuppData-S1.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/134235/3/ajmga37794_am.pd

A viral polymyositis masquerade: Life-threatening case of juvenile dermatomyositis complicated by systemic capillary leak syndrome

This is a case report of an 8-year-old boy who developed an atypical, rare subphenotype of autoimmune inflammatory acute juvenile dermatomyositis (JDM), initially masquerading as viral polymyositis (PM)-like presentation, that was complicated by a hitherto unreported fulminant, life-threatening pediatric systemic capillary leak syndrome (SCLS). We highlight the close differential between viral PM and JDM, the baffling clinical syndromic constellation of hypotension with hemoconcentration – a “shock”-like syndrome, hypoalbuminemia without albuminuria, and generalized edema with the atypical JDM presentation, and stress crucial need to implement early aggressive, multipronged immunomodulatory treatment along with intensive fluid resuscitation which saved the life, this patient from a stormy, and turbulent 4-week clinical illness. This is the first published case description in the current literature of the association of an aggressive subphenotype of JDM and life-threatening pediatric SCLS. This report opens the Pandora's Box to explore the genetic and pathomechanisms of both disorders

Evaluation of gastric biopsies in chronic gastritis: Grading of inflammation by Visual Analogue Scale

Introduction: Gastritis is a common condition with many etiologies and the classification of the same poses a great challenge to the pathologist. Aim: This study was undertaken to classify gastritis according to the Sydney system guidelines including graded and non-graded variables and simultaneously find association of Helicobacter pylori (H. pylori) with each of these variables. Materials and Methods: A total of 100 biopsies of chronic superficial gastritis received over a period of two years were studied, prospectively. Histology was evaluated with Hematoxylin and eosin, and Giemsa stains, and Gomori′s staining method for demonstration of reticulin fibres. Rapid Urease test results obtained from gastroenterology department were compared with histopathology. Chi-square test was used to analyze the correlation between the various variables. Results: Gastritis cases showed a male preponderance and the most common presenting complaint was dyspepsia. H. pylori gastritis usually shows increased neutrophilic activity but can also present with increased mononuclear inflammatory infiltrate and lymphoid follicles in chronic gastritis. Intestinal metaplasia and atrophy indicates the chronicity of the disease. H. pylori were noted in the areas away from the metaplastic gastric epithelium. Conclusion: The study showed that histopathology is the most sensitive test for diagnosing H. pylori on endoscopic biopsies. Though, rapid urease test kit gives gastroenterologist a rapid diagnosis, its specificity is low, and hence should be combined with histopathology, which is the gold standard for diagnosis

Recurrent metastatic mixed germ cell tumor of central nervous system with additional seminomatous component

Mixed germ cell tumors (GCTs) are aggressive tumors owing to poor response to therapy, frequent recurrence and metastasis. We present here a case of 29-year-old male with recurrent metastatic mixed GCT in the left parietal lobe, with right testicular primary. Interestingly, the recurrent tumor exhibited a seminomatous component, in addition to yolk sac tumor and embryonal carcinoma. The patient was treated with surgery, cranial radiotherapy and cisplatin-based chemotherapy. The metastatic intracranial tumor recurred twice and the patient died 18 months after the first appearance of central nervous system metastasis

Hyperacute paraplegia and neurovascular (immuno vasculotoxic) catastrophe of nicolau syndrome: Primum non nocere

A case of Nicolau syndrome (NS) in a 36-year-old adult taking an unusual and devastating hyperacute irreversible paraplegia after an intramuscular injection of benzathine penicillin as a part of routine chemoprophylaxis of her rheumatic heart disease is reported. Although this syndrome is a considerably rare, iatrogenic and underappreciated dermatologic entity, we reiterate in this report, its extracutaneous systemic potential for a catastrophic neurovascular phenomenon and morbidity as well as its possible preventive measures. The apoplectiform onset of T10 flaccid areflexic paraplegia, with the cutaneous hallmark of “embolia cutis medicamentosa” was corroborated by magnetic resonance imaging evidence of centromedullary complete cord involvement from T10 to conus medullaris. Combination therapy with pulse methylprednisolone, low-molecular-weight heparin, and pentoxifylline infusion proved unsuccessful. The skin biopsy and direct immunofluorescence revealed features were consistent with NS with overlap features of leukocytoclastic vasculitis, hitherto not reported. The literature of this preventable and iatrogenic disorder is reviewed, and plausible etiology is discussed

Evolution from invasive arterial puncture to a venous access for cerebral angiography: "Cath Lab to CT suite"

Background: Digital subtraction angiography (DSA) is considered as the gold standard in the evaluation of intracranial aneurysms. This study was undertaken to evaluate the effectiveness of computed tomogram angiography (CTA) in the detection and accurate characterization of intracranial aneurysms in suspected cases of nontraumatic subarachnoid hemorrhage. The importance of three-dimensional volume rendering of the intracranial vasculature and it′s used as an aid in improving diagnostic capabilities with regards to intracranial aneurysms in multi-detector computed tomography angiography (MDCTA), was stressed upon. This study also tried to probe whether MDCTA alone can be used in detection and treatment of intracranial aneurysms in emergency situations. Materials and Methods: Suspected cases of nontraumatic acute subarachnoid hemorrhage, over an 18 months period, underwent CTA in 16-slice-computed tomography suite. Fifty cases where CTA demonstrated intracranial aneurysms were studied. A set protocol of three-dimensional reconstruction was followed. Comparison of findings of MDCTA with surgical notes was performed. DSA was done in ambiguous cases. Results: Aneurysm was confidently diagnosed by CTA in 48 cases, and further confirmed on surgery. In doubtful cases, DSA was performed and then diagnosed as aneurysm. Thus, the sensitivity of CTA is diagnosing aneurysm is 96.6%, with a specificity of 100%. Conclusions: Digital subtraction angiography is an invasive, relatively costly, procedure to be done by highly skilled personnel with serious complication rate of 1%. This can be replaced by MDCTA, which is noninvasive, cost effective and easy to perform, and DSA can be reserved for doubtful or difficult cases. Following a set protocol of three-dimensional reconstruction helps in reducing errors

Neoplastic meningitis: A study from a Tertiary Care Hospital from coastal India

Introduction: Neoplastic involvement of cerebrospinal fluid (CSF) secondary to known or unknown primaries elsewhere is a poor prognostic factor and is equivalent to stage IV disease. Aim: The aim of the study is to analyse the cytological features of neoplastic meningitis in a tertiary care center. Materials and Methods: A retrospective study of 400 consecutive CSF samples was done in the cytology laboratory of our hospital. The fluid obtained by spinal tap was sent for microbiological, biochemical and cytological evaluation. Smears that showed the presence of malignant cells were included in this study. Results: Out of 400 cases, 36 (9%) showed neoplastic meningitis. Of which, 13 cases (36%) revealed leukemic infiltration, 2 (6%) lymphomatous infiltration and 21 (58%) carcinomatous meningitis. The leukemia cases included seven cases of acute lymphoblastic leukemia and six cases of acute myeloid leukemia. Among the carcinomatous meningitis cases, eight were metastasis from carcinoma breast, six from lung carcinoma and one each from malignancies of gallbladder, stomach and retinoblastoma. Four cases were metastatic adenocarcinoma from unknown primary. Pleocytosis was a significant finding seen in 58% cases (n = 21). Elevated protein and hypoglychorrhachia was noted in 68% cases (n = 18). Conclusion: A combined diagnostic approach including biochemical, microbiological and pathological evaluation was useful in eliminating infectious meningitis and confirming neoplastic meningitis in these cases. Cytology should be performed on cerebrospinal specimens from all patients with known or suspected malignancy with meningismus. Detection of malignant cells on cytological examination of CSF is the diagnostic gold standard for neoplastic meningitis