Porphyrias are uncommon disorders of haem metabolism and we report the first documented case of acute intermittent porphyria in Malaysia. The biochemical, clinical features and the management of this order are discussed.
An Indian family with all 3 sons having the fragile X syndrome is reported. The frequency of fragile X cells observed ranged from 4·16%. The phenotypically normal mother, although an obligate carrier, did not express any fragile X chromosomes in her Iymphocyte cultures. The range of mental retardation in affected
hemizygous males and heterozygous females as well as the significance of the fragile X chromosome in prenatal diagnosis are discussed.
Two Malaysian Chinese male children are described with Wiskoll-Aldrich syndrome, which has rarely been reported in the East. Classical features were found, with bleeding and infections, low titres of isohaemagglutinins and IgM, but variable IgG and IgA. The immune response was broadly disturbed. Survival of one child was sufficiently long for a Iymphoreticular malignancy or appear.
Spirit possession in an Indian family is described. Its importance as a culture-bound phenomenon is stressed. Its nature as a hysteria, and as a culturally sanctioned and accepted means of expression of emotions and feelings, are discussed.
A case of sarcoidosis is reported in the hope that this seemingly rare disease in Malaysia will be better recognised. A brief review of the literature is made and various points regarding the aetiology, pathology, clinical features and diagnosis are discussed.
Complicated migraine is not well known. It is associated with transient and protean sensory and motor
nenrological features although disturbance of mood, affect and psyche has also been described.
This paper is based on a study of ten patients suffering from complicated migraine and attempt is made
to describe various neurological symptoms and signs.
It becomes apparent from this study that there arc diverse manifestations of this interesting disorder.
Furthermore complicated migraine seems to affect a younger age group and there may not be any
family history of migraine. In most cases the nenrological symptoms precede the attacks of headaches.
The nenrological deficit may persist after longer periods. Initially, the attacks arc usnally followed by
complete recovery, with repeated attacks there may be residual neurological deficit. Though the exact
aetiology of the migraine remains unknown, it has been suggested that it is due to spasm or oedema of
cerebral vascular system. If the vessels involved are the carotid artery system, the symptoms and signs
obviously would be due to involvement of cerebral hemisphere, whereas affection of basilar artery
would produce signs and symptoms of cerebellar or brain stem deficiency.
At times it may be extremely difficult to differentiate between a typical attack of migraine and headache
due to an underlying pathology e.g. intracranial angioma or space occupying lesions, which may
require investigations such as angiography. The angiography may prove fruitless and cause deterioration
in neurological signs. A careful follow-up should be planned for cases with complicated migraine
to exclude any underlying pathology.
A 43-year-old lady with type 2 diabetes mellitus and bronchial asthma presented with varicella zoster infection, dyspnea, and neck fullness. An urgent computed tomography scan revealed a mediastinal abscess with superior vena cava thrombus. Blood, mediastinal pus, and swab from a vesiculopustule on the neck cultured group A beta hemolytic Streptococcus. She recovered with a combination of broad spectrum antimicrobials, antivirals, and surgical drainage. This case illustrates the rare occurrence of mediastinal abscess and acute superior vena cava obstruction caused by group A beta hemolytic Streptococcus complicating adult varicella zoster.
Hypokalemic thyrotoxic periodic paralysis is a potentially life-threatening complication of hyperthyroidism, defined by 3 characteristic features: thyrotoxicosis, hypokalemia, and acute painless muscle weakness. In this case, a 25-year-old Malaysian man presented with acute, painless lower extremity weakness immediately after a meal. His associated symptoms included palpitations, tremor, and anxiety. He also reported a 30-pound unintentional weight loss over the previous 18 months, dyspnea on exertion, and insomnia.
Glomus tumors are rare benign tumors commonly occurring in the digits of the hand. Surprisingly, considering the fingertips are of a similar make-up to the toes, there have been few reports of glomus tumor in the toes. The present case highlights a glomus tumor observed in the right second toe of a 56-year-old Indian female who presented with the classical triad of spontaneous pain, cold hypersensitivity, and pressure tenderness. There was a delay in diagnosis for approximately 18 years by various general practitioners who were not aware of the rare presentation of the glomus tumor. The tumor, which measured 5 x 3 mm, was excised from the nail bed of the toe. Histopathological inspection confirmed the diagnosis of glomus tumor. We believe that reporting this rare case may make clinicians more aware of this unusual diagnosis.
Gastrointestinal stromal tumours (GIST) are tumours of gastrointestinal tract and mesentery. The commonest site of its occurrence is the stomach. Patients with GIST are usually asymptomatic but they can present as abdominal pain, bleeding and rarely gastric outlet obstruction. In this particular case, the patient presents with symptoms of anaemia, partial gastric outlet obstruction and intermittent epigastric pain. Laparotomy was performed and a diagnosis of gastroduodenal intussusception secondary to gastrointestinal stromal tumour was made.
Pancytopenia can rarely complicate Grave's disease. It can be due to uncontrolled thyrotoxicosis or as a result of rare side effect of antithyroid medication. Pernicious anemia leading to Vitamin B12 deficiency is another rare associated cause. We report a case of a patient with Grave's disease and undiagnosed pernicious anemia whom was assumed to have antithyroid drug induced pancytopenia. Failure to recognize this rare association of pernicious anemia as a cause of pancytopenia had resulted in delay in treatment and neurological complication in our patient.
Chronic discharging ear, mostly due to middle or external ear infection, is one of the leading causes for seeking healthcare among the paediatric population in a developing country. However, a long-standing forgotten middle ear foreign body forms a rare cause for such presentation demanding a high index of suspicion from the clinicians. Most of them are iatrogenic or accidental, and are removed by conventional permeatal approach; need for tympanotomy is rarely documented in the recent literature. We report the first case where a large stone was introduced into the middle ear through a pre-existing tympanic membrane perforation by the child himself, and only the second documentation of removal of a middle ear foreign body by tympanotomy in a child.
Emergency lung resection for chest trauma is a rare event with a reported incidence of 0.08-1.3% but is associated with a high morbidity and mortality especially if a pneumonectomy is required, if due to blunt chest trauma or when concomitant injuries are present. We report three cases of young adult males with penetrating chest injuries that required emergency thoracotomy (ET) and anatomical lung resection to achieve definitive control of life threatening pulmonary haemorrhage. All patients survived to hospital discharge and remained well on follow-up. Indications for an ET and what constitutes the optimal operative management of such patients is discussed.
Kawasaki disease is primarily a condition that affects young children and it is associated with cardiac morbidity and mortality. This disease has been known to cause coronary artery aneurysms which occurs as a sequelae of vasculitis. The progression of triple vessel disease in adult which results from cardiac complications from Kawasaki disease is rare. We report a case of a young man with history of Kawasaki disease at infancy presenting with triple vessel disease requiring cardiac bypass surgery at the age of 20 years old.
Intraorbital foreign bodies (IOrbFB) are associated with both sight and life threatening injuries. We report a case of an IOrbFB associated with retrobulbar hemorrhage and injury of the frontal sinus in an 11 year-old boy, after history of fall from the tree. Imaging studies revealed a metallic foreign body (FB) in the orbit and fracture of the walls of the frontal sinus. The usual entry route of an IOrbFB is either through the eye or orbital walls and extremely rare through the paranasal sinuses. This is the first reported case of a FB entering the orbit through the frontal sinus.