We report the occurrence of X-linked lymphoproliferative disease (XLP) in two brothers in a Malaysian family. In this disorder, a primary Epstein-Barr virus (EBV) infection is followed by an abnormal proliferation of transformed B-cells that cannot be controlled by suppressor T-cells, leading to the development of deranged immune function. This results in fatal infectious mononucleosis, acquired hypogammaglobulinaemia, virus-infected haemophagocytic syndrome and non-Hodgkin's lymphoma. The diagnosis should be considered when there is a family history of any male having a fulminant course of infectious mononucleosis, an otherwise benign disease. Early diagnosis is important as bone marrow transplantation is the only curative option in this disorder.
Hyperplasia of the thymus is the most common anterior mediastinal mass in infants. It is however exceedingly difficult to evaluate by the weight of the gland as it continues to grow after birth until puberty and thereafter undergoes progressive atrophy. It normally maintains most of the radiographic characteristics of the normal thymus. Massive thymic hyperplasia, a rare variant of true thymic hyperplasia is extremely rare during the first two decades of life and clinically can cause mediastinal compression or acute and recurrent pulmonary infection. Two such cases are reported and the clinico-pathology is briefly described and discussed.
To determine the incidence of delayed intracranial haemorrhage and the indication for repeat computed tomography (CT), a one and a half year retrospective study was made. A total of 289 patients had CT scan for head injury of which 78 (26.9%) had multiple scans. Out of these, 5 patients developed delayed haemorrhages (one extradural, one subdural, and three intracerebral haematoma). The incidence of delayed intracranial haemorrhage in our series is small when compared with others. The main predisposing factors are decompressive surgery, hyperventilation and cerebral dehydration therapy. It is important to know when to repeat the CT scan. A review of the literature regarding this aspect is presented and compared with our protocol. Intracranial pressure monitoring plays an increasingly important role in the management of head injury and should be used to decide the patient requiring repeat CT. Follow-up CT without other indication is not necessary.
An ectopic location of the thyroid gland usually occurs in the midline, starting anywhere from the tongue to the diaphragm. The occurrence of an ectopic thyroid gland in a non-midline site is extremely rare. We report a 32-year-old Malay woman with an aberrant thyroid gland presenting as a parapharyngeal lesion. She had a normally functioning thyroid gland. An ectopic thyroid should be considered as one of the differential diagnoses in the parapharyngeal mass.
A 24-year-old lady with recurrent upper abdominal pain, underwent surgery for cholelithiasis based on imaging diagnosis by ultrasound scanning. At laparotomy, the gall bladder could not be found either in its normal or ectopic locations. The diagnosis of agenesis of the gall bladder was confirmed by operative cholangiography. Duplication cysts of the hepatic flexure were discovered in the position normally occupied by the gall bladder. The stony hard faeces in the cysts were probably interpreted as gallstones on ultrasound. This rare condition is discussed and the importance of intraoperative cholangiography is stressed.
BACKGROUND Polycythemia vera (PV) is a myeloproliferative neoplasm (MPNs) marked by elevated hemoglobin and hematocrit, which can lead to thromboembolic events and progress to myelofibrosis or acute myeloid leukemia (AML). MPNs, including PV, are relatively rare in Malaysia, and there is currently no recent published data reporting the demographics and outcomes of PV patients in the country. In Western countries, routine annual blood tests are standard, whereas this practice is less common in Malaysia, underscoring the need for improved awareness and accessibility to ensure timely diagnosis of PV. CASE REPORT This report presents a case of a 55-year-old Malaysian woman in a primary care setting, initially misdiagnosed with benign conditions due to atypical presentations of recurrent bilateral eye redness and dizziness. Persistent symptoms led to further evaluation by primary care and hematologist, which revealed elevated hemoglobin, hematocrit, leukocytosis, JAK2 V617F mutation, and low serum erythropoietin levels, confirming PV, even without proceeding with a bone marrow biopsy. Treatment with phlebotomy, hydroxyurea, and aspirin resulted in significant improvements in ocular symptoms and hematological parameters within 60 days. CONCLUSIONS This case underscores the critical role of primary care in the early detection of polycythemia vera. Timely identification and appropriate referral from primary care settings are essential to avoid diagnostic delays and ensure effective management, improving patient outcomes and preventing complications.
We describe a 5-year-old girl who had sudden onset difficulty in walking after 3 days of febrile illness. In the emergency department her creatine kinase level was elevated but urine myoglobin was normal. She was diagnosed as having benign acute childhood myositis. Because of poor oral intake and dehydration, she was admitted to the pediatric ward. The next day she had a petechial rash over the antecubital fossa, and dengue IgM back was positive. She was treated conservatively and recovered uneventfully. Despite dengue fever being endemic in Malaysia, this is the first case report of myositis following dengue infection in Malaysia.
A 13-year old boy with acute lymphoblastic leukemia on chemotherapy developed neutropenia and acute cellulitis progressing to fulminating septicemia due to Pseudomonas pseudomallei. Septicemic melioidosis should be considered in the differential diagnosis of a febrile illness in children who are susceptible to infections.
When performing a radiological assessment for a trauma case with associated head injury, a fragment of dense tissue detected near the craniovertebral junction would rapidly be assessed as a fractured bone fragment. However, if further imaging and evaluation of the cervical spine with computerised tomography (CT) did not demonstrate an obvious fracture, then the possibility of ligament calcification would be considered. We present a case involving a previously healthy 44-yearold man who was admitted following a severe head injury from a road traffic accident. CT scans of the head showed multiple intracranial haemorrhages, while scans of the cervical spine revealed a small, well-defined, ovoid calcification in the right alar ligament. This was initially thought to be a fracture fragment. Although such calcification is uncommon, accident and emergency physicians and radiologists may find this useful as a differential diagnosis in patients presenting with neck pain or traumatic head injury.
Castleman disease (CD) is a rare lymphoproliferative disorder of unknown aetiology. It manifests in two distinct clinical presentations: unicentric and multicentric. Unicentric CD is rare and may present as an isolated neck mass. A 22-year-old man presented with a 6-month history of right neck swelling that occupied the posterior triangle of the right neck region. After surgical exploration, a solitary, well defined, and hyper vascular mass was excise. A histopathological examination confirmed the lesion as CD, hyaline-vascular variant. CD of the neck is a diagnosis that is usually not taken into consideration while evaluating neck masses due to its rarity and unassuming presentation. It should be keep in the differential diagnosis of neck masses as the clinical and radiological features evade a firm diagnosis. The treatment of unicentric CD is complete surgical excision, which cures the patient.
Chordoid meningioma, classified as atypical meningioma according to the World Health Organisation (WHO) classification, is a rare subtype, which represents only 0.5% of all meningiomas and is associated with a high incidence of recurrence. Multiple intracranial meningiomas are rare in non-neurofibromatosis patients. We present a female patient with both of these rare types of meningioma. The patient presented with two concurrent intracranial meningiomas, with one a meningotheliomatous subtype and the other a chordoid meningioma. Given the wide array of histological differential diagnoses in chordoid meningioma, immunohistochemistry has a significant role to play in differentiating them. Recurrence in chordoid meningioma can be generally predicted based on the extent of resection, the percentage of chordoid element, and proliferation indices.
The case records of 64 patients with malaria over a five year period admitted to the University Hospital, Kuala Lumpur were examined. There were 32 cases of P. falciparum, 26 cases of P. vivax and two cases of mixed infections. Four cases of P. malariae were recorded. The clinical findings, biochemical and haematological parameters were examined for any indication of a pernicious syndrome. A high index of suspicion of a malarial infection may be based on the findings of anaemia, thrombocytopaenia, hyponatraemia, renal failure and abnormal liver function tests in the face of a negative blood film. These pernicious syndromes occur more often in malignant tertian malaria (anaemia 50%, hyponatraemia 39.1%) but a high percentage of the other malarial species show these abnormalities (P. vivax anaemia 57.7%, hyponatraemia 19.2%). When these abnormalities are present but blood films for malaria parasites are negative, repeat blood films are warranted until a parasitological diagnosis is achieved and correct treatment may be started.
A 67-year-old female scuba diver developed a typical immersion pulmonary oedema (IPE), but investigations strongly indicated Takotsubo cardiomyopathy (TC). The cardiac abnormalities included increased cardiac enzymes, electrocardiographic anomalies and echocardiographic changes, all reverting to normal within days. This case demonstrates a similarity and association between IPE and TC, and the importance of prompt cardiac investigations both in the investigation of IPE and in making the diagnosis of TC.
To describe the clinical findings, diagnostics, and differential diagnosis in a patient with retinopathy in acute systemic Epstein-Barr virus (EBV) infection.
Chromoblastomycosis is a chronic fungal infection of the skin and subcutaneous tissue that most commonly affects the feet and lower limbs. It is rare for this infection to occur on the face, and it is exceptionally rare for it to involve the nose and sinuses. This paper reports a rare case of nasal chromoblastomycosis in a 50-year-old Malaysian male.
Small bowel obstruction is a common clinical problem presenting with abdominal distention, colicky pain, absolute constipation and bilious vomiting. There are numerous causes, most commonly attributed to an incarcerated hernia, adhesions or obstructing mass secondary to malignancy. Here we present an unusual cause of a small bowel obstruction secondary to an incarcerated incisional hernia in association with an acute organoaxial gastric volvulus.