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Acute aspiration of a liquid hydrocarbon mixture by fire eaters may cause severe lipoid pneumonia. The toxic effect of ingested hydrocarbon chains depends on their length and biophysical qualities. We report the case of a patient who accidentally aspirated a hydrocarbon liquid resulting in a lipoid pneumonia. The pathomechanism, diagnostic work-up, and the therapeutic approach are discussed.
We document a case of unilateral hemiarcus lipoides, which developed de novo 10 months after trabeculectomy in the left eye of a 54-year-old woman. The involved eye showed heterochromia complicata Fuchs and had undergone intracapsular cataract extraction 11 years and trabeculectomy one year earlier. Except for intermittent hypercholesterolemia, the patient did not present any signs of systemic disease. The possible roles of relative ocular hypotony and modified aqueous circulation after trabeculectomy in the development of unilateral hemiarcus lipoides are discussed.
Bovine adrenal cortical tissue contains a lipoidal derivative of pregnenolone (3beta-hydroxy-pregn-5-en-20-one) from which the free steroid can be liberated by treatment with alkali. Evidence for the presence of such an entity comes from examination of a nonpolar extract of tissue from which pregnenolone and its sulfate had been removed by chromatography. Treatment of the nonpolar fraction with alkali followed by exhaustive chromatographic analysis led to the detection of pregnenolone. The steroid was identified by both gas chromatography/mass spectrometry and double isotope procedures. Quantitative analysis indicated that the three forms of pregnenolone are present in bovine adrenal cortical tissue in the following amounts (mug/kg): lipoidal derivative, 290; free steroid, 435; and sulfate, 65. Because the only known metabolic function of pregnenolone is to serve as a precursor of the steroid hormones, these findings have far-reaching implications for steroid hormone biochemistry.
An essential component of regulated steroidogenesis is the translocation of cholesterol from the cytoplasm to the inner mitochondrial membrane where the cholesterol side-chain cleavage enzyme carries out the first committed step in steroidogenesis. Recent studies showed that a 30-kDa mitochondrial phosphoprotein, designated steroidogenic acute regulatory protein (StAR), is essential for this translocation. To allow us to explore the roles of StAR in a system amenable to experimental manipulation and to develop an animal model for the human disorder lipoid congenital adrenal hyperplasia (lipoid CAH), we used targeted gene disruption to produce StAR knockout mice. These StAR knockout mice were indistinguishable initially from wild-type littermates, except that males and females had female external genitalia. After birth, they failed to grow normally and died from adrenocortical insufficiency. Hormone assays confirmed severe defects in adrenal steroids-with loss of negative feedback regulation at hypothalamic-pituitary levels-whereas hormones constituting the gonadal axis did not differ significantly from levels in wild-type littermates. Histologically, the adrenal cortex of StAR knockout mice contained florid lipid deposits, with lesser deposits in the steroidogenic compartment of the testis and none in the ovary. The sex-specific differences in gonadal involvement support a two-stage model of the pathogenesis of StAR deficiency, with trophic hormone stimulation inducing progressive accumulation of lipids within the steroidogenic cells and ultimately causing their death. These StAR knockout mice provide a useful model system in which to determine the mechanisms of StAR's essential roles in adrenocortical and gonadal steroidogenesis.
Exogenous lipoid pneumonia induced by modified animal fat (ghee) in 10 children is described. The initial presentation was of an acute or chronic pneumonia which proved refractory to anti-microbial chemotherapy. The radiological presentation varied from mild perihilar consolidation to diffuse and extensive bilateral involvement, particularly of the posterior lung segments. A history of administration of ghee provided the initial clue to the diagnosis, which was confirmed by demonstration of fat by bronchoalveolar lavage or by open lung biopsy. Eight of the 10 patients improved with either steroid therapy alone or steroids with resection of the most involved lung segments. One patient, who had extensive superinfection with Mycobacterium fortuitum, died. Lipoid pneumonia should be considered in the differential diagnosis of 'non-resolving' pneumonias in communities where the cultural practice of infant feeding with ghee is prevalent. Public awareness through health education about the potential hazards of this practice to infants and children can contribute to reduce the incidence of the problem.
Super-infection of an exogenous lipoid pneumonia by nontuberculous mycobacteria has been described in the literature. It produces a distinctive histologic picture with suppurative, noncaseating granulomas surrounding lipid vacuoles containing acid-fast bacilli. Mainly isolated cases have been found, but seldom in children. We describe a series of 9 children with similar histological findings. All our patients were under 1 year of age, malnourished, and with chronic respiratory symptoms. The diagnosis, based on the characteristic histology with acid-fast rods, was established at autopsy in 4 cases, on lobectomy specimens in 4 and by open lung biopsy in 1. Mycobacterium fortuitum-chelonei was cultured in 1 case. Gastro-esophageal reflux was documented in all 4 cases in which it was explored. Aspiration of lipid gastric contents or of oil given as medication can result in exogenous lipoid pneumonia, which in turn becomes super-infected with mycobacteria. Recognition of the distinctive histology permits the diagnosis of this complication.
High signal intensity on both T1 and T2 spin-echo sequence was found with magnetic resonance imaging in one case of lipoid pneumonia related to mineral oil aspiration. This finding, rather specific of lung parenchyma infiltrated by lipids, may help for the diagnosis of lipoid pneumonia.
Exogenous lipoid pneumonia results from the aspiration or inhalation of fatty substances, such as mineral oil found in laxatives or nasal medications containing liquid paraffin. We present standard and lipid-sensitive (Chemical-shift) MR findings in a patient with histologically confirmed lipoid pneumonia. The loss of signal intensity in an area of airspace disease on opposed-phase imaging was considered specific for the presence of lipid.
We present two unusual cases of aseptic postoperative lipoid meningitis resulting from necrosis of a free fat graft placed into a skull base craniotomy defect. Two patients underwent translabyrinthine resection of acoustic neuroma and received abdominal fat grafts to ablate the surgical defect. Both patients presented postoperatively with persistent cerebrospinal fluid (CSF) wound leak and severe headache. Computed tomography demonstrated hydrocephalus and widely dispersed intracranial fat droplets throughout the CSF circulation. Both patients ultimately required CSF diversion for management of persistent communicating hydrocephalus. The clinical and radiographic correlates of lipocephalus and lipoid meningitis are presented, and a review of free fat graft physiology is discussed.
Forcible administration of rendered animal fat to infants is a tradition in south western Saudi Arabia. Accidental inhalation may result in a resistant form of lipoid pneumonia. A series of 24 cases of lipoid pneumonia, 22 of which were diagnosed by bronchoscopy with bronchial lavage and microscopic examination of the aspirate, are reported. The technique is described briefly and the results analysed. A high index of suspicion together with bronchoscopy and bronchial lavage of all cases of resistant or recurrent pneumonia is essential in areas such as ours for diagnosis of this condition.
Diffuse lipoid pneumonitis is rare. Prednisolone can be beneficial, but no other method of treatment has been tried. The first case of diffuse lipoid pneumonitis successfully managed with whole lung lavage is described.
PURPOSE: To evaluate sequential changes in thin-section computed tomographic (CT) findings after inducement of lipoid pneumonia and provide the histopathologic bases of these findings. MATERIALS AND METHODS: Shark liver oil was administered to 12 sites in seven pigs. Thin-section CT scans were obtained within 1 hour and at 1 week, 2 weeks, 4 weeks, 8 weeks, 12 weeks, and 16 weeks after oil administration. Scans were assessed for opacity, distribution, location at the lobular level, extent, and volume of the lesions. The CT number in consolidation areas also was measured. Findings at CT were correlated with those in the histopathologic specimens. RESULTS: Diffuse ground-glass opacity was noted on all immediately obtained scans. The opacity of the lesions was highest at 1 week; then it decreased gradually to an area of ground-glass opacity. The extent and volume of the lesions decreased at follow-up CT. Histopathologically, the lesions showed a lobular distribution sharply demarcated from the normal lungs. The lobules of decreased volume showed residual thickening of the alveolar walls with bronchiolectasis and mild collagen deposition of the interlobular septa. Pathologic examination of the low-attenuating consolidation area at CT revealed evidence of partial aeration. CONCLUSION: Thin-section CT findings of lipoid pneumonia include ground-glass opacity and airspace consolidation, followed by complete or incomplete resolution with volume loss and septal thickening. Low-attenuating consolidation at CT does not always indicate the presence of fat.
CONTEXT: Lipoid congenital adrenal hyperplasia (CAH) is the most severe form of CAH leading to impaired production of all adrenal and gonadal steroids. Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) cause lipoid CAH. OBJECTIVE: We investigated three unrelated patients of Swiss ancestry who all carried novel mutations in the StAR gene. All three subjects were phenotypic females with absent Müllerian derivatives, 46,XY karyotype, and presented with adrenal failure. METHODS AND RESULTS: StAR gene analysis showed that one patient was homozygous and the other two were heterozygous for the novel missense mutation L260P. Of the heterozygote patients, one carried the novel missense mutation L157P and one had a novel frameshift mutation (629-630delCT) on the second allele. The functional ability of all three StAR mutations to promote pregnenolone production was severely attenuated in COS-1 cells transfected with the cholesterol side-chain cleavage system and mutant vs. wild-type StAR expression vectors. CONCLUSIONS: These cases highlight the importance of StAR-dependent steroidogenesis during fetal development and early infancy; expand the geographic distribution of this condition; and finally establish a new, prevalent StAR mutation (L260P) for the Swiss population.
CONTEXT: Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero. OBJECTIVE: The objective of this study was to investigate whether nonclassic forms of this condition exist. PATIENTS AND METHODS: Sequence analysis of the gene encoding StAR was undertaken in three children from two families who presented with primary adrenal insufficiency at 2-4 yr of age; the males had normal genital development. Identified mutants were tested in a series of biochemical assays. RESULTS: DNA sequencing identified homozygous StAR mutations Val187Met and Arg188Cys in these two families. Functional studies of StAR activity in cells and in vitro and cholesterol-binding assays showed these mutants retained approximately 20% of wild-type activity. CONCLUSIONS: These patients define a new disorder, nonclassic lipoid congenital adrenal hyperplasia, and represent a new cause of nonautoimmune Addison disease (primary adrenal failure).
Congenital lipoid adrenal hyperplasia (lipoid CAH) is a rare genetic disorder of adrenal and gonadal steroidogenesis of unknown cause in which cholesterol cannot be converted to pregnenolone. As a result, affected individuals can make no steroid hormones, so that all affected newborns are phenotypic females, irrespective of karyotype. We studied two pregnancies in a family with two previously affected children by examining fetal karyotype, genital ultrasonography, and amniotic fluid steroid concentrations and by performing ACTH tests on family members. Prenatal diagnosis correctly identified both an unaffected XX fetus and an affected XY fetus. In the affected pregnancy, amniotic fluid concentrations of progesterone and pregnenolone were 30% and 50% of normal, respectively, but concentrations of 17 alpha-hydroxypregnenolone, 17 alpha-hydroxyprogesterone, cortisol, dehydroepiandrosterone, androstenedione, and estriol were either extremely low or undetectable, suggesting that these detected steroids were donated by maternal steroidogenesis. Fetal cord blood obtained at the termination of pregnancy showed very low concentrations of estrogens donated by the mother's circulation. Absent fetal steroidogenesis was confirmed by gas chromatography and mass spectrometry of both fetal and maternal serum. The responses of 10 different steroids to adrenal stimulation with ACTH in the obligately heterozygous parents were normal. Thus, unlike the case with other forms of CAH, heterozygosity cannot be determined by hormonal responses to provocative testing with ACTH. Immunocytochemistry and Western blotting showed that the affected placental tissue contained P450scc protein, confirming that P450scc is intact in these patients.
The treatment of lipoid pneumonia, an uncommon chronic lung condition, is generally conservative. We describe a patient with idiopathic lipoid pneumonia who was successfully treated with oral steroids with improvement of chest radiographic abnormalities.
Eleven patients with exogenous lipoid pneumonia are reported. A history of usage of oil was obtained in all, but in five only retrospectively after thoracotomy. The clinical presentations ranged from occasional cough to severe respiratory difficulties. The radiologic manifestations varied from a solitary lipoid granuloma and larger consolidations simulating carcinoma to extensive subacute bronchopneumonia. The definitive diagnosis was made by history and radiographic findings in three, by history and analysis of sputum or bronchial washings in two, and after thoracotomy in six.
In general tumours of lipoid origin are benign. A high proportion of cases are mesenchymal neoplasms localised in subcutaneous tissue. Neurological signs related to compression of neural structures by fat within the vertebral canal were first presented in 1975. The lipogenic neoplasms represent 1-4% of spinal tumours, and generally are associated with congenital disorders of the spine. These fatty swellings are usually benign, but penetrating deeply into the spine, and connecting with spinal cord, cauda equina or filium terminale, they produce deficits. The deficits may be present at birth but they may also occur in the middle age. These events are classified as epidural lipomatosis (mostly observed in patients on chronic steroid treatment) or as lipoma, common in spinal disraphism. Intracranial tumours of lipoid origin are very rare (0.06-0.5% of brain tumours), and are probably congenital. They occur anywhere within the cranium, however a high proportion of cases tend to be located around the midline, and approximately 50% of tumours are found in the corpus callosum. Usually they are asymptomatic, and when the symptoms occur, they are frequently a result of general clinical condition. The authors present three cases of lipomatous tumours; one intracranial and two of spinal location.