To highlight the first reported case of necrobiotic xanthogranuloma of the parotid gland. We also review the clinical presentations and treatments for this rare condition.
Xanthomatous changes can be observed in various conditions including primary xanthomatosis that is linked to an underlying hypercholesterolemia and more commonly associated with secondary xanthomatous degenerative processes in neoplasm and chronic inflammation. Meningioma with extensive xanthomatous change is exceedingly rare. The presence of cholesterol clefts within this peculiar meningioma subtype has not been described. Herein, we report an unusual case of xanthomatous meningioma in an 83-year-old normolipidemic woman, who presented to us with worsening lower limb weakness and global aphasia. There was increasing evidence to suggest that the presence of xanthomatous changes in long-standing meningioma is merely a sequela of cellular degeneration rather than true metaplastic change as previously hypothesized. Hence, the diagnosis of "xanthomatous meningioma" in the metaplastic category should be revisited and considered as a distinct histological subtype. The possible histogenesis of such intriguing phenomenon is discussed with a review of the literature.
Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia.
Xanthogranulomatous pyelonephritis is a clinico-pathological entity that is gaining awareness amongst urologists worldwide. It is an unusual chronic inflammatory lesion involving the kidney that destroys renal parenchyma and may mimic renal carcinoma. It is usually seen in middle-aged women and is associated with urinary tract infections and urinary calculi. Most reports and reviews of this condition come from the West; this study reviews the incidence and presentation of the condition in a Malaysian population.
A total of 86 unrelated Malaysian patients with familial hypercholesterolaemia (FH) were studied for mutations in their low-density lipoprotein receptor (LDL-R) gene. Amongst them, 23 had a LDL-R gene mutation, while none having an Apolipoprotein B-3500 (Apo B-3500) mutation. Patients with the LDL-R gene defect appeared to have a higher level of low-density lipoprotein cholesterol (LDL-C), an increased incidence of xanthomas and coronary heart disease (CHD), but no relationships were found between the type of LDL-R gene mutations and their lipid levels or clinical signs of CHD. In contrast to Western data, our findings seemed to indicate a predominance of mutations in the ligand binding domain and an absence of Apo B-3500 gene mutation. The latter finding may offer a genetic basis as to why Asian patients with familial hypercholesterolaemia have lower LDL-C levels and less premature CHD than their Western counterparts.
Penile augmentation with injection of paraffin is a common practice in South East Asia. Penile paraffinoma occurring due to injection of liquid paraffin to enhance the size of the penis is an uncommon condition. Normally, this procedure is carried out by nonmedical personnel, without the prior knowledge or consultation of any urologist. The occurrence of such a deforming procedure is not commonly known to the medical profession in Malaysia.
Van Bogaert Scherer Epstein Disease is a rare autosomal recessive condition involving abnormal deposition of cholesterol and cholestanol in various parts of body, various clinical symptoms manifest on different age group, significantly neurological impairment in late presentation. We are reporting a slow learner young lady presented with bilateral painless ankle swelling, our initial clinical impression were torn Achilles tendon or Haglund's deformity. On further detail history taking, it leads us towards this disease and confirmed with biopsy. A proper history taking and assessment can easily diagnose this condition, early treatment can perhaps change the fate of these unfortunate patients.
Eight cases of xanthogranulomatous pyelonephritis occurring in an oriental population are reported. The patients were mostly middle-aged, and there was a female preponderence. Nephrectomy controlled the disease in all cases. Diagnosis on clinical and radiological grounds is difficult, and it is often only made on pathological examination of the kidney after nephrectomy. The nature of the disease remains obscure.
Familial hypercholesterolemia is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor gene. Few and limited analyses of familial hypercholesterolemia have been performed in Malaysia, and the underlying mutations therefore remain largely unknown.We studied a group of 154 unrelated FH patients from a northern area of Malaysia (Kelantan). The promoter region and exons 2-15 of the LDLR gene were screened by denaturing high-performance liquid chromatography to detect short deletions and nucleotide substitutions, and by multiplex ligation-dependent probe amplification to detect large rearrangements.
Background:
Familial hypercholesterolaemia (FH) is one of the most frequent inherited metabolic disorders that can lead
to a risk of premature cardiovascular disease. Publications on FH are mainly from western patients as there is
little research on Asians, including Malaysians. The aim of this review is to provide an up-to- date information
on Malaysian studies on FH genotyping and its relation to the phenotype of the affected patients.
Method:
A search was conducted for data from online databases on FH in Malaysia.
Results:
The mutation spectrum for FH among Malaysian patients was extremely broad. The gene variants were located
mainly in the low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB-100) genes rather than
in the proprotein convertase subtilisin kexin type 9 (PCSK9) gene. The exon 9 and 14 were the hotspots in the
LDLR gene. The most frequent mutation was p.Cys255Ser, at 12.5%, followed by p.Arg471Gly, at 11%, and the
most common single nucleotide polymorphism (SNP) was c.1060+7 T>C at 11.7%. The LDLR gene variants were
more common compared to the APOB-100 gene variants, while variants in the PCSK9 gene were very few.
Phenotype-genotype associations were identified. Subjects with LDLR and APOB-100 genes mutations had a
higher frequency of cardiovascular disease, a family history of hyperlipidaemia and tendon xanthoma and a
higher low-density lipoprotein cholesterol (LDL-C) level than non-carriers.
Conclusion:
Research on Malaysian familial hypercholesterolaemic patients by individual groups is encouraging. However,
more extensive molecular studies on FH on a national scale, with a screening of the disease-causing mutations
together with a comprehensive genotype-phenotype association study, can lead to a better outcome for
patients with the disease.