OBJECTIVES: To present a case of anti NMDA receptor encephalitis in an adolescent male; to report a case of anti-NMDA receptor encephalitis who showed a rapid response to methylprednisone.
INTRODUCTION: Anti NMDA receptor encephalitis is an inflammatory encephalopathic autoimmune disease frequently affecting young women with teratomas of the ovary. It is also observed in men, children, and females without tumors.
THE CASE: A case of a 14 year adolescent right handed male adolescent presented with fever, hypertension , psychiatric symptom ,aphasia and orofacial dyskinesia. On admission he was highly febrile with dysautonomia, rigidity, catatonia and prominent orofacial dyskinesia. Upper motor signs include hyperreflexia and bilateral clonus. He latter developed Ileus, bladder and bowel incontinence, seizures, chorea, dystonia and dIe orofacial dyskinesia worsened. EEG showed continuous background slowing, Cranial MRI was normal and CSF analysis showed pleocytosis with lymphatic predominance with a normal protein and sugar. Work up for Herpes and Japanese B encephalitis was negative. Work up for tumor was negative. After 5 days of methylprednisone a rapid improvement was noted with resolution catatonia, rigidity hypereflexia and clonus. Results of the anti NMDA receptor antibodies showed positive for anti NMDA receptor encephalitis.
DISCUSSION: Anti NMDA receptor encephalitis presents with fever, headache,or malaise, followed mood and behavioral changes, psychiatric symptoms, decline of level of consciousness, hypoventilation and hyperkinesias. Immunotherapy is the current treatment. In patients with underlying tumor, immunotherapy, enhanced the effectiveness and speed of recovery. In patients without a tumour an additional treatment with second-line immunotherapy is needed but was not noted in this case. The patient showed a rapid recovery after methylprednisone and after 4 months post immunotherapy there was no recurrence of symptoms.
CONCLUSION: Anti NMDA receptor encephalitis is an inflammatory encephalopathic autoimmune disease and can be seen in children without tumors. Behavioral and hyperkinesias are prominent symptoms. Treatment with methylprednisone showed a good response.

Human ; Male ; Adolescent ; Anti-n-methyl-d-aspartate Receptor Encephalitis ; Catatonia ; Chorea ; Dyskinesias ; Dystonia ; Electroencephalography ; Encephalitis, Japanese ; Hashimoto Disease ; Hyperkinesis ; Leukocytosis ; Primary Dysautonomias ; Receptors, N-methyl-d-aspartate

OBJECTIVES: To present a case of childhood primary dystonia with good response to zolpidem.
INTRODUCTION: Dystonia is a syndrome of sustained muscle contractions causing twisting and repetitive movements or abnormal postures. It is not uncommon in children. Although there are several options to treat dystonia,its medical treatment is notoriously difficult and often unsuccessful. Zolpidem, an imidazopyridine agonist with a high affinity to benzodiazepine subtype receptor BZ1, is reported to improve basal ganglia disease including Parkinson'sdisease and various types of dystonia.
THE CASE: 11 year old female with torticollis starting the 7years old. At q10years old symptoms progressed with her back hyperexteded. Her cranial MRI was normal. She was started on Levodopa and carbidopa however no improvement of symptoms was noted. She was started on zolpidem and there was a marked improvement in speech, writing, swallowing, walking and posture observed.
DISCUSSION: Primary dystonia is defined as syndromes in which dystonia is the sole phenotypic manifestation. There is no cognitive decline and cranial MRI is normal. Management of childhood dystonia differs in certain respects from that of adult dystonia. Dopamine responsive dystonia in children is rare, but a trial of L-dopa should be performed on all patients rith childhood-onset dystonia. Dystonia is associated with hypoactivity of the globus pallidus interna, and widespread brain alterations in GABAA/benzodiazepine receptors. Zolpidem binding sites are abundant in the basal ganglia output structure the globus pallidus interna and substantia nigra pars reticulata. It is thought that by binding to these sites, zolpidem help restore Ie ganglionic output influence to the thalamus and motor cortex.
CONCLUSION: There are several options to treat dystonia,its medical treatment is notoriously difficult and often unsuccessful. Zolpidem an imidazopyridine agonist can be given in childhood dystonia unresponsive to dopamine.

Human ; Female ; Child ; Basal Ganglia ; Benzodiazepines ; Carbidopa ; Deglutition ; Dopamine ; Dystonic Disorders ; Globus Pallidus ; Levodopa ; Motor Cortex ; Parkinson Disease ; Pars Reticulata ; Dystonia

INTRODUCTIONSporadic clinical episodes of malignant hyperthermia (MH) that develop during general anaesthesia (GA) have been reported in Singapore. However, there is no published local report of a confirmed case of MH susceptibility (MHS) by skeletal muscle contracture tests and/or molecular tests.

MATERIALS AND METHODSWe report 2 patients from an extended family who developed signs of clinical MH while under GA. The MH episodes were successfully treated with intravenous dantrolene sodium. Sequence analysis of the entirecoding gene was carried out in an index patient.

RESULTSThe index patient was found to carry a c.7373G>A (p.Arg2458His) mutation in exon 46. This particular mutation satisfies the criteria for a MHS causative mutation. Hence, the index patient was considered to be MHS and did not need to undergo further muscle contracture testing. The same mutation was also found in 3 other members of his extended family.

CONCLUSIONThis is the first report of a Singaporean family with at least 4 members carrying a MH-causative mutation ingene. This report serves to highlight the existence of the putative gene for MH in Singapore, and the need for clinical vigilance during anaesthesia involving the use of triggering agents.

INTRODUCTIONOvarian carcinoma usually presents at an advanced stage with diffuse intraabdominal manifestations. We report a patient who presented with a right groin swelling.

CLINICAL PICTUREThe only clinical abnormality was an enlarged right inguinal lymph node (3 x 2 cm), for which excision biopsy revealed metastatic adenocarcinoma. A computed tomography (CT) scan showed an enlarged left ovarian lesion (9.0 x 6.4 cm).

TREATMENT AND OUTCOMELaparotomy with total hysterectomy, bilateral salpingo-oophrectomy and partial omentectomy were performed. Histology confirmed left ovarian adenocarcinoma, consistent with the earlier histology of the right inguinal lymph node. There were no other sites of involvement. Postoperatively, the patient received adjuvant chemotherapy for treatment of FIGO Stage IIIc ovarian carcinoma and is clinically disease free 13 months after surgery.

CONCLUSIONSOvarian cancer presenting with inguinal lymph node metastases is uncommon. Ovarian cancer which manifests solely as a contralateral inguinal lymph node metastasis has not been previously reported. This case illustrates a rare presentation of ovarian carcinoma, and underscores the need to consider ovarian carcinoma in the differential diagnosis of women with inguinal lymphadenopathy.

Adenocarcinoma ; pathology ; surgery ; Female ; Groin ; Humans ; Lymphatic Metastasis ; Middle Aged ; Ovarian Neoplasms ; diagnostic imaging ; pathology ; surgery ; Tomography, X-Ray Computed

Reactive oxygen species (ROS) play an important role in the pathogenesis of airway inflammation and hyperresponsiveness. Recent studies have demonstrated that antioxidants are able to reduce airway inflammation and hyperreactivity in animal models of allergic airway disease. A newly developed antioxidant, small molecular weight thiol compound, N-acetylcysteine amide (AD4) has been shown to increase cellular levels of glutathione and to attenuate oxidative stress related disorders such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis. However, the effects of AD4 on allergic airway disease such as asthma are unknown. We used ovalbumin (OVA)-inhaled mice to evaluate the role of AD4 in allergic airway disease. In this study with OVA-inhaled mice, the increased ROS generation, the increased levels of Th2 cytokines and VEGF, the increased vascular permeability, the increased mucus production, and the increased airway resistance in the lungs were significantly reduced by the administration of AD4. We also found that the administration of AD4 decreased the increases of the NF-kappaB and hypoxia-inducible factor-1alpha (HIF-1alpha) levels in nuclear protein extracts of lung tissues after OVA inhalation. These results suggest that AD4 attenuates airway inflammation and hyperresponsiveness by regulating activation of NF-kappaB and HIF-1alpha as well as reducing ROS generation in allergic airway disease.
Acetylcysteine/*analogs & derivatives/therapeutic use ; Animals ; Asthma/drug therapy/*immunology/pathology ; Bronchial Hyperreactivity/*drug therapy/metabolism ; Hypoxia-Inducible Factor 1, alpha Subunit/*metabolism ; Mice ; NF-kappa B/*metabolism ; Ovalbumin/immunology ; Reactive Oxygen Species/*metabolism ; Vascular Endothelial Growth Factor A/metabolism

Epstein-Barr virus positive diffuse large B-cell lymphoma (EBV+ DLBCL) is prevalent among Asians but is underreported in the Philippine setting. We report the case of an 88-year-old male who presented with difficulty swallowing. CT scan showed an ill-defined soft tissue focus with calcifications in the supraglottic to hypopharyngeal region measuring approximately 2.6 x 1.7 x 1.5 cm, and multiple lymphadenopathies in the head and neck. Biopsy of the masses at the left tonsil, left arytenoid mucosa, pyriform sinus, and aryepiglottic fold showed large lymphoid cells with several Reed-Sternberg-like cells in a background of small lymphocytes, neutrophils, few eosinophils and histiocytes. A panel of immunohistochemical stains and EBER-ish were performed to differentiate among six entities that were morphologically similar to the patient’s case, namely, classic Hodgkin lymphoma, T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL), DLBCL, NOS, anaplastic variant, B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classic HL (gray zone lymphoma), and infectious mononucleosis (IM). The neoplastic cells expressed CD20, CD30, CD45, PAX5, CD10, MUM-1, BCL6, BCL2, and c-myc, while CD3, CD15 and ALK-1 were negative. The cells of interest also showed nuclear staining (30-40%) on Epstein-Barr virus encoding RNA in-situ hybridization (EBER-ish). The Ki-67 showed a proliferation index of 40-50%. Given the differences in prognosis and treatment among these diseases, judicious use of immunostains and EBER-ish is recommended for accurate diagnosis.
Immunohistochemistry ; Philippines ; Herpesvirus 4, Human

INTRODUCTION: The objectives of this study were to examine the effects of ethnicity, gender and a proton pump inhibitor (PPI), omeprazole, on the human gut microbiome. PPIs are commonly used for the treatment of acid-related disorders. We hypothesised that PPI therapy might perturb microbial communities and alter the gut microbiome. METHODS: Healthy subjects of Chinese (n = 12), Malay (n = 12) and Indian (n = 10) ancestry, aged 21-37 years, were enrolled. They provided a baseline stool sample (Day 1) and were then given a course of omeprazole at therapeutic dose (20 mg daily) for seven days. Stool samples were collected again on Day 7 and 14 (one week after stopping omeprazole). Microbial DNA was extracted from the stool samples, followed by polymerase chain reaction, library construction, 16S rRNA sequencing using Illumina MiSeq, and statistical and bioinformatics analyses. RESULTS: The findings showed an increase in species richness (p = 0.018) after omeprazole consumption on Day 7, which reverted to baseline on Day 14. There were significant increases in the relative abundance of Streptococcus vestibularis (p = 0.0001) and Veillonella dispar (p = 0.0001) on Day 7, which diminished on Day 14. Faecalibacterium prausnitzii, Sutterella stercoricanis and Bacteroides denticanum were characteristic of Chinese, Malays and Indians, respectively. Lactobacillaceae and Bacteroides xylanisolvens were the signature taxa of male and female subjects, respectively. CONCLUSION The study demonstrated alterations in the gut microbiome following omeprazole treatment. This may explain the underlying pathology of increased risk of Clostridium difficile infections associated with omeprazole therapy.