Nevus lipomatosus superficialis is a rare benign skin malformation characterised by ectopic adipocytes in the upper dermis. It is classified into two types: a classical Hoffman-Zurhelle type and the solitary type. A case of the classical type with multiple soft, non-tender, pedunculated, cerebriform, skin-coloured papules and nodules over the right lower back is presented in a 21-year-old Malay woman. She had a rare occurrence of ulceration and necrosis of the lesions.
Rhinocerebral mucormycosis is an invasive fungal sinusitis with a high mortality rate, especially in immunocompromised patients. A 70-year-old woman, with uncontrolled type 2 diabetes mellitus, presented with a one-month history of non-specific headaches associated with progressive swelling of her left eye. Computed tomography of the brain and orbits showed the extensive involvement of bilateral intranasal sinuses, orbits, extraocular muscle and soft tissues. The diagnosis of invasive mucormycosis was confirmed from a tissue biopsy taken from the internasal septum. Despite the extensive mucormycosis invasion, she was successfully treated with intranasal and systemic amphotericin B and minimal adjunctive intranasal sphenoidotomy.
Pulmonary atelectasis may be caused by endobronchial lesions or by extrinsic compression of the bronchus. However, lung collapse due to compression from a thoracic aneurysm is uncommon. We report a 76-year-old hypertensive female patient who has pulmonary atelectasis due to an extrinsic compression from a descending thoracic aortic aneurysm, and discuss possible treatment options.
Retinoblastoma, the most common primary intraocular malignancy of childhood, usually presents in the first three years of life. Atypical presentation of retinoblastoma can masquerade as virtually any ocular or orbital pathology, which may lead to diagnostic dilemmas especially in the presence of other systemic diseases. We report a 20-month-old boy who was diagnosed with coronary aneurysm as a complication of Kawasaki disease, and presented with sudden left eye redness. His mother noticed the presence of white pupillary reflex three months earlier. Atypical acute ocular presentation secondary to Kawasaki disease was initially suspected, but the presence of multiple calcification and mild proptosis on imaging suggested characteristics of advanced retinoblastoma. Histopathological examination of the enucleated eye, which revealed a classical rosette pattern appearance, confirmed the diagnosis. Atypical presentations of retinoblastoma are usually associated with advanced disease. The presence of other systemic conditions further complicates the diagnosis. Early diagnosis is important to reduce the mortality and morbidity.
The fibrinolytic system plays an important role in normal haemostasis and endothelial function. This study was conducted to compare three fibrinolytic markers, i.e. plasminogen, tissue-plasminogen activator (t-PA) and plasminogen activator inhibitor type-1 (PAI-1) between acute stroke and stable non-stroke patients and to investigate the clinical significance of these markers.
The Klippel-Trenaunay syndrome is a combination of venous and capillary malformations associated with soft tissue and/or bony limb hypertrophy, with or without lymphatic malformations. Although persistent foetal veins are rare, the persistence of the lateral marginal vein is a common association in this syndrome. It results in venous hypertension, which gives rise to venous varicosities, which are commonly seen in this syndrome. This is a case report of a 28-year-old man with Klippel-Trenaunay syndrome, with persistence of the lateral marginal vein, affecting his right lower limb. He was treated with an above-knee amputation. The amputated limb was dissected to demonstrate the anatomy of the lateral marginal vein. To the best of the authors' knowledge, the gross anatomy of the lateral marginal vein has not been previously reported.
Rett syndrome (RS) is a severe neurodevelopmental disorder characterised by normal neurological development followed by progressive developmental regression. The X-linked dominant inheritance of RS has been mapped to the gene that encodes the methyl-CpG-binding protein-2 (MECP2) at Xq28. In the present study, denaturing high-performance liquid chromatography (DHPLC) was used to detect mutations in the MECP2 gene in 20 Malaysian RS patients.
INTRODUCTION: This study was undertaken to establish the craniofacial anthropometric norms of young adult Malaysian Malays.
METHODS: The study group consisted of convenient samples of 100 healthy volunteers (aged 18-25 years), with an equal number of female and male subjects who had no history of mixed racial parentage. 22 linear measurements were taken twice from 22 landmarks over six craniofacial regions.
RESULTS: The Malays shared many similar sizes of measurements with the Singaporean Chinese. Their left eye fissure length and mouth width (ch-ch) were almost identical for both genders. However, Malay females had an upper lip height (sn-sto) (left) and ear width (pra-pa) similar to Singaporean Chinese females. Six other measurements, viz. the head width (eu-eu), head circumference (on-op), face height (n-gn), lower face height (sn-gn), (left) eye fissure height (ps-pi), cutaneous upper lip height (sn-ls) and cutaneous upper lip height (ls-sto), were 0.4-4.3 mm less in the Malays. Measurements for another four parameters, viz. the length of the head (g-op), biocular width (ex-ex), lower vermillion height (sto-li) and (left) ear length (sa-sba), were 0.5-3.6 mm higher in the Malays. Only three measurements were obviously different; the height of the head (v-n) and intercanthal width (en-en), were lower, and the protrusion of the nasal tip (sn-prn) was higher in the Malays.
CONCLUSION: These findings suggest that three features, i.e. the height of the head (v-n), intercanthal width (en-en) and protrusion of the nasal tip (sn-prn) may be useful in differentiating a Malay face from a Singaporean Chinese one.
Breast cancer is a rare condition among men with a reported incidence of about one percent. Nevertheless, it is thought to behave similarly in both genders. Due to its rarity, male breast cancer is not widely reported, especially in the Asian population.
The quality of life of transfusion-dependent thalassaemia patients is affected by the disease itself and iron overload complications from repeated blood transfusion. Desferrioxamine has been used to remove the excess iron, resulting in decreased mortality and morbidity. In Malaysia, a significant proportion of the transfusion-dependent thalassaemia patients are not prescribed desferrioxamine, due to its high cost, especially as it is not subsidized by the government. The aim of this study was to measure the quality of life of thalassaemia patients on desferrioxamine treatment.
Chikungunya is a re-emerging mosquito-borne viral infection that has spread from East Africa to Indian Ocean islands and re-emerged in India since 2004. In Malaysia, chikungunya re-emerged after a hiatus of seven years, causing a localised outbreak in a north-western coastal town in 2006 and subsequently widespread outbreaks in 2008. Since the first local outbreak of chikungunya in Singapore in January 2008, chikungunya infections have been increasingly reported in Singapore. In this case series, five patients aged 37-62 years, with chikungunya infection confirmed in August 2008, were reported. Three of the five were male, and only one had medical comorbidities. Two had a travel history to Johor, Malaysia, where local outbreaks of chikungunya had been reported. Fever, arthralgia and rash were the most common symptoms. Fever lasted four to five days while viraemia lasted four to 11 days, persisting two to three days after defervescence in three patients. A biphasic pattern of fever was observed in two patients. Leucopenia was noted in all patients, while mild thrombocytopenia and transaminitis occurred in three of five patients. Two patients had persistent polyarthralgia at two to three weeks after the onset of symptoms. Fever, arthralgia and rash should prompt consideration of acute chikungunya in Singapore. While taking the travel history, doctors should be mindful that indigenous chikungunya cases can occur.
Sabah, formerly known as North Borneo, is part of East Malaysia. 52.2 percent of patients with breast cancer in Sabah presented at advanced stages and up to 20.4 percent of patients defaulted proper treatment, opting for traditional therapy. We performed a two-year prospective study looking at the treatment trends of breast cancer in Sabah.
Thyroid cancer is the most common among all endocrine malignancies. The worldwide prevalence of goitre in the general population is estimated at 4-7 percent and the incidence of malignancy in goitrous thyroid is about ten percent. It is postulated that goitrous thyroid is a precursor lesion to the development of malignant thyroid diseases. As Sarawak is a state well known for endemic goitre, this study focused on establishing the incidence of thyroid malignancy among goitrous thyroid swellings.
The early identification of asphyxiated infants at high risk of adverse outcomes and the early selection of those who might benefit from neuroprotective therapies are required. A prospective observational study was conducted to determine if there were any early clinical, neuroimaging or neurophysiological parameters that might predict the outcome in term newborns with asphyxia.
We report a six-year-old Malay girl who presented with a right retroperitoneal tumour that measured 7.5 cm in diameter. A wide excision of the lesion was performed. The tumour was separated from a normal-appearing right kidney by a capsule. Microscopically, this well-encapsulated tumour was composed of classical triphasic components: epithelial, mesenchymal and blastemal areas. The immunohistochemical study showed WT1 expression in the blastemal area. Thus, a diagnosis of Wilms' tumour with favourable histology was made. The patient was well for 12 months. Extrarenal Wilms' tumour is uncommon, with the majority of cases occurring in the retroperitoneal and inguinal areas. Wilms' tumour that is not arising from the intrarenal area but shares a common capsule with the ipsilateral kidney, is even rarer. Indeed, our case would be more appropriately classified as juxtarenal/pararenal Wilms' tumour. Despite its rarity, an extrarenal or even juxtarenal/pararenal Wilms' tumour should be included in the differential diagnosis of retroperitoneal tumour.
An aneurysmal bone cyst is a rare bone lesion. Its origin and precise nature remain unknown. It is seen as a locally-destructive, rapidly expandable, benign multicystic mass. We report a 17-year-old boy with an aneurysmal bone cyst of the maxilla, with extensive local involvement and bony destruction that was treated surgically. There was no recurrence noted after four years of follow-up.
The prevalence of auditory neuropathy is not known, although the majority of cases are felt to lie within the population of neonatal intensive care unit graduates. We report three cases of auditory neuropathy, out of 211 children with sensorineural hearing loss, seen at our audiology clinic from April 1, 1999 to December 31, 2003. Two patients did not have a risk factor for hearing impairment. Screening policies based solely on transient evoked otoacoustic emissions testing will not detect auditory neuropathy effectively, and may falsely reassure parents and professionals unaware of this condition.
Study site: Audiology clinic, Hospital Universiti Sains Malaysia, Kelantan, Malaysia
The AdeABC pump of Acinetobacter spp. confers resistance to various antibiotic classes. This pump is composed of the AdeA, AdeB, and AdeC proteins where AdeB is a member of the resistance-nodulation-division efflux pump superfamily. The adeA, adeB, and adeC genes are contiguous and adjacent to adeS and adeR, which are transcribed in the opposite direction and which specify proteins homologous to sensors and regulators of two-component systems, respectively. In this study, an attempt is made to elucidate the role of the AdeABC efflux pump in carbapenem resistance in Acinetobacter spp.
Micropenis may be an important sign of underlying hypogonadism or pituitary hypofunction in the neonatal period. Penile lengths of normal newborns have been reported in many Western populations. However, the data may not be applicable in the Asian or the multiracial Malaysian population. Our study aimed to establish the normal penile length and testicular volume in term newborn infants in the major ethnic groups in Malaysia.