A six-year-old boy, a known case of acute lymphoblastic leukaemia (ALL) on remission since 1991 presented with leukocoria and poor vision of the left eye for two days' duration. Examination revealed endophthalmitis in the left eye with raised intraocular pressure. Anterior chamber paracentesis with vitreous biopsy confirmed a diagnosis of ocular involvement. Further investigation revealed that he also had bone marrow and central nervous system relapse. Clinical manifestation and treatment modalities of ocular involvement in leukaemia are discussed.
A 66-year-old man sustained an injury to his right foot while gardening. Despite receiving tetanus toxoid one hour later and adequate wound toilet, he developed severe tetanus complicated with autonomic dysfunction six days later. He died 20 days after admission. This case shows that tetanus toxoid alone may not be sufficient to prevent tetanus in wounded patients. Careful consideration must be given to the immune status of the patient and to the nature of the wound sustained. Incompletely immunised patients or patients with unknown immune status who sustain a tetanus prone wound should be protected with both tetanus toxoid and tetanus immunoglobulin.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is primarily a familial disease with autosomal dominant inheritance. Incomplete penetrance and variable expression are common, resulting in broad disease spectrum. Three patterns of phenotypic expression have been described: (1) "classic" subtype, with predominant right ventricle involvement, (2) "left dominant" subtype, with early and dominant left ventricle involvement, and (3) "biventricular" subtype, with both ventricles equally affected. Genotypephenotype associations have been described, but there are other genetic and non-genetic factors that can affect disease expression. We describe two different phenotypic expressions of ARVC in a family.
The occurrence of Leptospirosis and Escherichia coli coinfection in the post-partum period is a novel case. This report illustrated a previously well woman from a suburban area presented with acute neurological deterioration following a two days history of fever during her puerperal period. Early interventions with fluids, broad spectrum antibiotics and intensive supportive care were given. Despite that, she deteriorated rapidly and developed pulmonary hemorrhage, disseminated intravascular coagulopathy, and multi-organ failure. She succumbed within 12 hours of admission. The knowledge about such fatal co-infections should be disseminated to medical practitioners encountering Leptospirosis infection and general public.
Acinetobacter infection, especially the drug-resistant strain, is a common cause of nosocomial infection. However, community-acquired Acinetobacter infection is uncommon. We reported three cases of community-acquired Acinetobacter pneumonia. All three cases had histories of regular home-brewed alcohol consumption presented with severe acute respiratory symptoms requiring ventilatory support and had low total white cell count. They succumbed to the illness within 2 to 10 days of admission. They had positive blood or endotracheal aspirate cultures of sensitive-strain Acinetobacter sp. which was only sensitive to high dose sulbactam. Early recognition and correct antibiotic can help reduce mortality.
Mesenchymal chondrosarcoma is a malignant neoplasm arising from cartilaginous bone or soft tissue. It is uncommon yet devastating. Our patient was a 21-year-old man who presented with pleuritic chest pain and weight loss. His chest radiograph showed left pleural effusion. His pleural effusion analysis was consistent with exudative pleural effusion. Tuberculosis workup was negative. Pleural fluid cytology did not yield malignant cells. Subsequently, his computed tomography of thorax showed left rib sclerotic lesion with soft tissue component. Biopsy of the soft tissue eventually confirmed the diagnosis of mesenchymal chondrosarcoma. He succumbed to his illness before the diagnosis was confirmed. We hope that through this case report, we are able to provide some insight into this rare condition.
There are increasing reports of methanol poisoning (MP) incidence worldwide. In Malaysia, the largest first methanol poisoning was reported in Selangor in 2013 with a total of 41 patients and cluster of cases been reported from the country since then. Often MP involved adulterated alcohol containing more than the legal permissible concentration of methanol. Methanol is rapidly absorbed and metabolised into formic acid which causes variable symptoms of the central nervous system such as blindness, seizure, coma and gastrointestinal disturbances. Mortality could reach up to 83% as reported using the coma state, pH and pCO2 level in the worst-case scenario.
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included microcephaly, hemangioma, low set ears, cleft palate, micrognatia and the typical BOS posture. Chromosomal analysis showed 46 xx -Bohring-Opitz Syndrome overlapped with C- syndrome. Goal-directed holistic care with integration of parent/carer training was started very early. She succumbed to a Respiratory- Syncitial-Virus and Pseudomonas pneumonia complicated with sepsis at the age of two years and 11 months.
Diesel is commonly used as fuel for engines and is distilled from petroleum. Diesel has toxic potential and can affect multiple organs. Exposure can occur after ingestion, inhalation or through the dermal route. The practice of siphoning diesel using a rubber tubing and the mouth is common in rural communities. This can lead to accidental ingestion and aspiration. Here we report a case of a patient who accidentally ingested diesel during siphoning, which caused extensive erosion of the oral cavity and oesophagus leading to pneumomediastinum and severe chemical lung injury. The patient responded well initially to steroids and supportive care but required prolonged hospitalisation. He developed complications of nosocomial infection and succumbed 23 days after admission.
Pneumonia is primarily a disease that is usually managed medically with antibiotics. However, in rare cases it may progress to necrotising pneumonia, which is an uncommon but severe complication of bacterial pneumonia. This case illustrates a typical case of necrotising pneumonia complicated with parenchymal and pleural complication such as empyema, pneumothorax with possible bronchopleural fistula. Early consultation with thoracic surgeon can be life-saving.
A rare case of double Philadelphia chromosome-positive B Acute lymphoblastic Leukaemia (B-ALL) is reported here. A 60-year-old lady presented with one month history of fever, submandibular lymphadenopathy, loss of appetite and weight loss. Physical examination revealed multiple palpable cervical lymph nodes. Blood film showed leucocytosis with 72% blasts. Bone marrow assessment confirmed a diagnosis of B-ALL with presence of double Philadelphia (Ph) chromosomes. As she was very ill, she was initially treated with an attenuated regimen of induction chemotherapy consisting of rituximab, cyclophosphamide, vincristine and prednisolone (R-CVP) along with intrathecal chemotherapy comprising methotrexate, cytarabine and hydrocortisone. Bone marrow examination post-induction chemotherapy showed >5% blasts. She was subsequently re-induced with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R-CHOP) along with intrathecal chemotherapy, following which she went into complete remission. Consolidation chemotherapy consisting of methotrexate, methylprednisolone, cytarabine, intrathecal chemotherapy and imatinib was subsequently administered followed by maintenance chemotherapy consisting of vincristine, prednisolone and imatinib (IDEAMOP). She developed spontaneous bruises and relapsed four months into her maintenance chemotherapy with 90% blasts in the bone marrow which was treated with fludarabine, cytarabine and granulocyte colony stimulating factor (FLAG). Unfortunately she developed neutropenic sepsis which was complicated by invasive lung aspergillosis. Bone marrow examination post-FLAG showed 80% blasts. Despite aggressive antifungal therapy, her lung infection worsened and she finally succumbed to her illness 13 months after the initial diagnosis. We highlight a rare case of elderly B-ALL with double Ph chromosomes which carries a poor prognosis despite aggressive treatment for the disease and its complications.
Ruptured dissecting aortic aneurysm more commonly occur in men in the 40 to 70 age group, and most commonly is associated with atherosclerosis. Uncommon causes are previous heart surgery, connective tissue disorders and aortitis. Despite its rarity, Clostridium spp aortitis progresses very rapidly with a mortality rate of approximately 79% in adults, typically occurring within 48 hours of infection. We present a case of sudden death due to clostridial aortitis causing ruptured aortic dissection in an apparently healthy adult female, 7 weeks post-spontaneous vaginal delivery. This case highlights the pathology of aortic dissection and cystic media necrosis as presentations of clostridium spp infection in young female adult.
Bone cement implantation syndrome (BCIS) is characterized by hypoxia, hypotension, cardiac arrhythmias, increased pulmonary vascular resistance and cardiac arrest. It is a known cause of morbidity and mortality in patients undergoing cemented orthopaedic surgeries. The rarity of the condition as well as absence of a proper definition has contributed to under-reporting of cases. We report a 59-year-old woman who sustained fracture of the neck of her left femur and underwent an elective hybrid total hip replacement surgery. She collapsed during surgery and was revived only to succumb to death twelve hours later. Post mortem findings showed multiorgan disseminated microembolization of bone marrow and amorphous cement material.
Juvenile myelomonocytic leukaemia (JMML), previously known as juvenile chronic myeloid leukaemia (JCML) is a rare, myelodysplastic - myeloproliferative disease typically presenting in early childhood. This disorder is difficult to distinguish from other myeloproliferative syndrome such as chronic myeloid leukaemia (CML) because of the similarities in their clinical and bone marrow findings. However, because of its unique biological characteristics such as absolute monocytosis with dysplasia, absence of Philadelphia chromosome or BCR-ABL fusion protein, hypergammaglobulinaemia and raised fetal haemoglobin level, this disorder does not satisfy the criteria for inclusion in the CML or chronic myelomonocytic leukaemia (CMML) group, as seen in adult patients. We describe a series of three patients with JMML, who had almost similar clinical and laboratory findings, and discuss the difficulty in the classification and treatment of the disease.
Transient abnormal myelopoeisis (TAM) is a haematological phenomenon commonly seen in newborns with Down syndrome. Although the majority show spontaneous resolution, this condition should not be dismissed too readily as there have been associated fatalities. Furthermore, even for those who do show spontaneous resolution, a significant percentage will develop acute megakaryoblastic leukaemia within the next few years of life. We report a series of four patients with TAM who presented with hepatosplenomegaly and leucocytosis detected on preliminary investigations.
Edwardsiella tarda has recently been described as a member of the family Enterobacteriaceae. The genus Edwardsiella contains three species; E. hoshinae, E. ictaluri and E. tarda. Edwardsiella tarda is the only species which has been recognised as pathogenic to humans, especially in those with an underlying disease. The most common presentation is watery diarrhoea. Extra intestinal infections have been reported infrequently. Humans seem to be infected or colonised with Edwardsiella through ingestion or inoculation of a wound. This report is of a patient with multiple liver abscesses due to E. tarda who later developed bacterial peritonitis and septicaemic shock.
Anaemia is a frequent complication in patients with haematological malignancies and is caused by a variety of mechanisms including neoplastic cell infiltration into the bone marrow, haemolysis, nutritional deficiencies and defect in erythropoiesis or dysplastic anaemia as a result of the disease itself. However, acquired dysplastic anaemia which mimic congenital dyserythropoietic anaemia (CDA) type II morphology in the bone marrow is very rare. A 41-year-old Chinese man presented with refractory symptomatic anaemia in September 2001. He was clinically pale with no other significant physical finding. His initial peripheral blood picture showed normochromic normocytic anaemia with haemoglobin level of 26g/L, with no evidence of haemolysis and a poor reticulocyte response of 0.6%. Bone marrow aspiration was done and showed congenital dyserythropoietic anaemia (CDA) type II-like morphology. He was treated symptomatically with regular blood transfusions approximately every 3 weeks, until August 2002 when he developed multiple cervical lymphadenopathy with loss of appetite, loss of weight and low grade fever. Biopsy of the lymph node confirmed the diagnosis of small lymphocytic lymphoma. Staging with computed tomography and bone marrow aspirate revealed the infiltration of lymphoma cells into the marrow cavity consistent with the staging of IVB. This case report illustrates that CDA type II-like dysplastic anaemia can preceed the development of lymphoma.
A 25-year-old man was referred to Hospital UKM with a 2-week history of fever, productive cough and loss of appetite. Physical examination revealed an ill-looking, tachypnoeic young man. No obvious lymphadenopathy or organomegaly was noted. Examination of the respiratory system revealed right pleural effusion. Full blood picture demonstrated leukocytosis with 90% blasts, and bone marrow examination confirmed the diagnosis of acute myeloid leukemia (AML) French-American-British (FAB) classification of M4 with eosinophilia. His chromosome karyotyping showed complex karyotypic abnormalities. Cytological examination of the pleural fluid demonstrated numerous blast cells indicating leukemic infiltration of the lungs, which is a rare presentation in AML. He was then started on induction chemotherapy with intravenous daunorubicin and cytarabine. In the midst of treatment, he developed an episode of seizure and cerebro-spinal fluid cytology confirmed central nervous system (CNS) leukaemic infiltration. Additional intrathecal methotraxate was given. Repeat bone marrow examination done on day 15 of chemotherapy showed persistence of excess blasts indicating refractory AML. He was then reinduced with high dose cytarabine but to no avail. The disease progressed and he succumbed about 8 weeks after the initial diagnosis was made. We highlight here a case of AML-M4Eo with complex karyoyptic abnormalities presenting with leukaemic infiltration of the lungs and CNS which had imparted a bad prognosis for this subtype of AML, AML-M4Eo.
Factor VII deficiency is a rare congenital blood disorder. Its clinical features are rather variable and ranges from epistaxis to massive intracranial haemorrhage. Treatment involves replacement therapy, which constitutes use of fresh frozen plasma, prothrombin complex concentrates or recombinant activated factor VII. Although it is a rare entity, one still needs to consider it as a probable diagnosis in a newborn with coagulopathy. We report here a case of Factor VII deficiency in a newborn who presented with subdural haemorrhage at day 4 of life.