Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.

FBXL4 -associated encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13) is a rare genetic disorder characterized by early neonatal onset of encephalopathy, seizures, lactic acidosis, hypotonia, dysmorphism, and severe global developmental delay. Prenatal phenotype of molecularly confirmed MTDPS13 has not been well studied. This is the case report of a non-consanguineously conceived fetus ascertained first at 20 weeks of gestation with multiple soft markers. Follow-up fetal ultrasonogram at 26 weeks revealed periventricular cysts, periventricular echogenicity, ventriculomegaly, thin corpus callosum, mega cisterna magna, and large cavum. Fetal MRI confirmed these findings. Postnatally, the baby had clinical and biochemical findings indicative of a mitochondriopathy and died on neonatal day 3. Whole exome sequencing on stored amniotic fluid DNA confirmed the diagnosis of encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13). This report presents the prenatal phenotype of this rare mitochondriopathy, which has been recognized primarily in postnatal patients. The brain imaging findings in the reported fetus indicate that MTDPS13 is associated with progressive neurological involvement and brain tissue destructive changes starting as early as the second trimester of pregnancy. The case also raises concerns regarding the association of so-called soft markers, which were the only initial finding in this case, with severe monogenic diseases.

The role of diffusion-weighted imaging in the evaluation of adnexal lesions.

Purpose: Magnetic resonance imaging (MRI) has been used as a problem-solving tool in the diagnosis of adnexal lesions. Both benign and malignant ovarian masses can present as complex adnexal lesions. Preoperative diagnosis of malignancy is essential for planning the surgical approach and appropriate treatment regimen. The aim of our study was to determine the role of diffusion-weighted MRI (DWI) in differentiating benign from malignant adnexal lesions. Material and methods: Fifty-five patients (constituting 67 lesions) referred to MRI for evaluation of adnexal lesions were studied using 1.5 T MRI. The signal on DWI (qualitative) and ADC values (quantitative DWI) of the solid and cystic components of the lesions were analysed separately. Chi-square test, cross tabulation, and ROC curves were used to determine features on DWI that could distinguish benign from malignant lesions. Results: Of the 67 lesions, 50 were benign and 17 were malignant. There was a significant association of hyperintense signal of solid components on T2W and DWI with malignancy, with a p-value of 0.003 and 0.001, respectively. Benign lesions showed hypointense signal on T2W and DWI. ADC values of the solid components could not distinguish benign from malignant lesions; p = 0.290. The signal intensity and ADC values of the cystic fluid in benign and malignant lesions showed a significant overlap. Conclusions: Qualitative DWI acts as an adjunct to conventional MRI in differentiating benign from malignant adnexal lesions showing solid/mixed morphology. It plays no role in distinguishing lesions based on their cystic components. ADC values play no role in differentiating benign from malignant adnexal lesions irrespective of lesion morphology.

Focal organizing pneumonia simulating lung malignancy: treated with prednisolone.

Focal cryptogenic organizing pneumonia (FOP) is a localized form of cryptogenic organizing pneumonia (COP). It is an uncommon clinicopathological entity associated with non-specific symptoms and radiographic findings simulating lung malignancy. Incidence of idiopathic FOP is not known and only reported as case series. Its treatment usually involved surgical resection. Here, we report a case of a 62-year-old female presenting with a history of dyspnoea, persistent paroxysms of dry cough, and low-grade fever of three weeks duration with a solitary consolidation on imaging. Computed tomography-guided biopsy showed an organizing pneumonia pattern. A therapeutic trial with prednisolone resulted in resolution without the need for surgical resection, without recurrence after follow-up for 12 months.

Active pulmonary tuberculosis presenting with acute respiratory failure.

Four patients with active pulmonary tuberculosis (PTB) presenting with respiratory failure are reported here. Bronchogenic PTB, simulating an acute febrile illness or diffuse interstitial lung disease with short duration of symptoms, as a cause of acute respiratory failure is less recognized. If diagnosed and treated early, it has good prognosis. Three of the four patients presented here had an acute presentation with fever, dyspnoea, and hypoxemia with diffuse infiltrative lesions on radiography, and the other younger patient presented predominantly with lobar consolidation. These patients presenting with respiratory failure required intensive care management, and a diagnosis was made with bronchoalveolar lavage fluid and transbronchial lung biopsy. All four patients promptly received antitubercular therapy, showed clinicoradiological improvement, and were stable at 1 year follow up.

Nasal application of petrolatum ointment - A silent cause of exogenous lipoid pneumonia: Successfully treated with prednisolone.

We report a case of exogenous lipoid pneumonia from chronic, extranasal use of petrolatum ointment (Vicks VapoRub in this case) for nasal decongestion in a young woman, presenting with cough, dyspnea and fever. Exogenous Lipoid pneumonia is a rare condition, underdiagnosed and is more prevalent in adults. Usually asymptomatic and diagnosed while evaluating predisposed patients who become clinically unstable or an abnormal lung shadow or during evaluation of rhinobronchial allergy. It is rarely reported from chronic use of petrolatum ointment extranasally and was diagnosed by transbronchial biopsy in the present case. She was found, retrospectively, to have been using petrolatum ointment, as an extranasal application since more than a year at bedtime. She didn't give history of using any other oil-based nasal topical vasoconstrictor preparations for sinusitis. Our patient was managed with discontinuation of further use of the petrolatum ointment and treatment with prednisolone apart from her regular treatment for chronic rhinobronchial allergy. Patient is stable without any further radiological deterioration during follow-up of one year.