COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

Pontocerebellar hypoplasia (PCH) type 12 is a rare, perinatal lethal neurodegenerative genetic disorder caused by biallelic mutations in the COASY gene. Herein, we describe the clinical and neuroradiological profile of nine affected fetuses/neonates from five families identified with a common COASY: c.1486-3C>G biallelic variant. Four of the five families were identified after data reanalysis of unresolved, severe PCH like phenotype and the fifth family through collaboration. The common antenatal phenotype was cerebellar hypoplasia. Microcephaly, arthrogryposis, and intrauterine growth restriction were the shared postnatal findings. The neurological manifestations included seizures, poor sucking, and spasticity. Novel findings of corpus callosum agenesis, simplified gyral pattern, normal sized pons, optic neuropathy, and a small thorax are reported in this series. The allele frequency of the COASY: c.1486-3C>G variant was 0.62% in the available Asian Indian database. We describe this as a possible common Indian origin variant. To the best of our knowledge, this is the largest PCH12 series reported.

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Neutral sphingomyelinases have an important role in generation of ceramide and phosphorylcholine from sphingomyelins which then act as secondary messengers in various signaling pathways of the cellular machinery. They function ubiquitously with a predominant role in the central nervous system. Neutral sphingomyelinase type 3, encoded by SMPD4 gene has recently been reported to cause a severe autosomal recessive neurodevelopmental disorder with congenital arthrogryposis and microcephaly. We report a 22-month-old girl having characteristic features of neurodevelopmental delay, prenatal onset growth failure, arthrogryposis, microcephaly and brain anomalies including severe hypomyelination, simplified gyral pattern and hypoplasia of corpus callosum and brain stem. In addition, she was noted to have nystagmus and visual impairment secondary to macular dystrophy and retinal pigment epithelial stippling at posterior pole. Copy number variant analysis from trio whole exome sequencing (ES) enabled identification of a homozygous 11 kb deletion encompassing exons 18-20 of SMPD 4 gene, confirming the diagnosis of SMPD4-related disorder in her.

Endometriosis and Its Myriad Presentations: Magnetic Resonance Imaging-Based Pictorial Review.

Endometriosis is a major cause of infertility and pain in females in the reproductive age group. It is a result of ectopic functional endometrial cells outside the uterus. It consists of a spectrum of findings from superficial to deep implants initiating a fibrotic response and resulting in adhesions. Diagnosis of endometriosis is based on clinical history, noninvasive and invasive techniques. The final diagnosis is based on laparoscopy with histopathological confirmation. Ultrasonography is the first line of investigation, followed by magnetic resonance imaging (MRI) in complex cases. MRI is a noninvasive, multiplanar technique that involves no radiation and provides excellent delineation of the disease process. As deep endometriosis has a similar low signal to adjacent normal organs, it can be easily overlooked by radiologists. They should be aware of the spectrum of diseases so as to provide a roadmap for the surgeons. A structured reporting system helps radiologists organize and standardize their reports.

Congenital Central Overinflation with Mainstem Bronchial Stenosis: Pre- and Postnatal Imaging and Outcome-Case Report and Brief Review of Literature.

Congenital overinflation of lung is underdiagnosed prenatally as the imaging features of the same are not well described. We describe a very rare case of central variety of congenital overinflation, secondary to right mainstem bronchial stenosis, not previously described in our knowledge, which presented as an enlarged homogenous echogenic/hyperintense lung with cardio-mediastinal shift and was misdiagnosed as congenital pulmonary airway malformation (CPAM). We reviewed imaging features helpful in prenatal diagnosis of this condition on ultrasound and magnetic resonance imaging and discussed an approach for differential diagnosis. The congenital central overinflation may be considered in prenatal detected echogenic lung lesions with the absence of cysts or systemic arterial supply and presence of hypervascularity or dilated bronchi within the lesion.

CT appearance of gastrointestinal tract mucormycosis.

Mucormycosis is a fungal infection caused by fungi of order mucorales. It is most commonly seen in patients with an impaired immune system due to any cause. Gastrointestinal mucormycosis is the least frequent type and may be a primary disease or a feature of generalized mucormycosis. Angioinvasion is the hallmark feature of mucormycosis, leading to bowel infarction which is the responsible for the most common clinical complaint of pain, and is also responsible for most of the imaging findings in this disease. The stomach is most commonly involved organ in the gastrointestinal tract and pneumatosis and lack of gastric wall enhancement are the most common imaging findings. Areas of bowel wall thickening and/ or lack of enhancement are seen in small bowel mucor and perforation can occur due to ischemia. Colonic mucor can present with mural thickening, or complete lack of definition or 'disappearance' of bowel wall with associated air containing collections. Mucormycosis affecting the bowel has a high mortality rate and early recognition and intervention may improve patient outcomes significantly. It should be suspected in immunosuppressed patients with imaging findings of unexplained bowel ischemia, infarction and/or pneumatosis without any obvious visible vascular thrombus.

Idiopathic Granulomatous Mastitis and its Mimics on Magnetic Resonance Imaging: A Pictorial Review of Cases from India.

OBJECTIVES: Idiopathic granulomatous mastitis (IGM) is a rare inflammatory disease of the breast, which is benign but potentially morbid. Mammographic and sonographic findings have been well characterized, but magnetic resonance imaging (MRI) findings have been less thoroughly documented. The objective of this study was to demonstrate characteristic findings for IGM and its mimics via a retrospective review. MATERIAL AND METHODS: Breast MRI examinations performed at Sir Ganga Ram Hospital in New Delhi, India between 2014 and 2019 were retrospectively reviewed to identify cases in which a pattern suggestive of granulomatous mastitis was seen. Cases of known malignancy were excluded. Any available breast pathology results were then obtained, and cases with presumptive or definitive diagnoses were compiled for analysis. RESULTS: Overall, cases identified with characteristic imaging findings and confirmed diagnosis included seven cases of IGM, four cases of invasive ductal carcinoma, two cases of tuberculous mastitis, one case of non- tuberculous infectious mastitis, one case of foreign body mastitis, and one case of eosinophilc mastitis. One case of IGM with masses rather than of non-mass enhancement was also identified. CONCLUSION: In our review, cases with clustered ring enhancement were found to have inflammatory, idiopathic, infectious and malignant etiologies. While, these etiologies can only be reliably differentiated on pathology, familiarity with the pattern and an awareness of the differential may lead to decreased morbidity due to delays in diagnosis.

Role of magnetic resonance imaging in breast cancer management.

Magnetic resonance imaging (MRI) of the breast is primarily used as a supplemental tool to breast screening with mammography or ultrasound. A breast MRI is mainly used for women who have been diagnosed with breast cancer, to help measure the size of the cancer, look for other tumors in the breast, and to check for tumors in the opposite breast. For certain women at high risk for breast cancer, a screening MRI is recommended along with a yearly mammogram. MRI is known to give some false positive results which mean more test and/or biopsies for the patient. Thus, although breast MRI is useful for women at high risk, it is rarely recommended as a screening test for women at average risk of breast cancer. Also, breast MRI does not show calcium deposits, known as micro-calcifications which can be a sign of breast cancer.

The Abernethy malformation-myriad imaging manifestations of a single entity.

Abernethy malformation, also known as congenital extrahepatic portosystemic shunts (CEPS) is a rare clinical entity and manifests with different clinical symptoms. CEPS are abnormalities of vascular development where there is shunting of portal blood into the systemic venous system. Multidetector computed tomography (MDCT) is a fast and effective modality for evaluation of CEPS. CT displays all the information desired by the surgeon as well as the clinician including the anatomy of the splenic and superior mesenteric veins, size and site of the shunt, presence or absence of the portal vein radicles, and helps to plan the therapy and even the follow-up of these patients. Contrast-enhanced magnetic resonance imaging (MRI) has also emerged as a promising tool for the evaluation of liver lesions associated with the malformation. The Radiologist should be aware of the various imaging appearances of this entity including its complications. In this article, we describe the imaging appearances of CEPS, their complications, and their imaging appearances on CT and MRI. We have also described various associated anomalies.

Beyond Prostate Adenocarcinoma: Expanding the Differential Diagnosis in Prostate Pathologic Conditions.

Recent advances in magnetic resonance (MR) imaging of the prostate gland have dramatically improved the ability to detect and stage adenocarcinoma of the prostate, one of the most frequently diagnosed cancers in men and one of the most frequently diagnosed pathologic conditions of the prostate gland. A wide variety of nonadenocarcinoma diseases can also be seen with MR imaging, ranging from benign to malignant diseases, as well as infectious and inflammatory manifestations. Many of these diseases have distinctive imaging features that allow differentiation from prostate acinar adenocarcinoma. Early recognition of these entities produces a more accurate differential diagnosis and may enable more expeditious clinical workup. Benign neoplasms of the prostate include plexiform neurofibroma and cystadenoma, both of which demonstrate distinctive imaging features. Stromal neoplasms of uncertain malignant potential are rare tumors of uncertain malignant potential that are often difficult to distinguish at imaging from more-malignant prostate sarcomas. Other malignant neoplasms of the prostate include urothelial carcinoma, primary prostatic carcinoid, carcinosarcoma, endometrioid or ductal adenocarcinoma, and mucinous adenocarcinoma. Prostatic infections can lead to abscesses of pyogenic, tuberculous, or fungal origins. Finally, miscellaneous idiopathic disorders of the prostate include amyloidosis, exophytic benign prostatic hyperplasia, and various congenital cysts. Considerable overlap can exist in the clinical history and imaging findings associated with these prostate pathologic conditions, and biopsy is often required for ultimate confirmation of the diagnosis. However, many diagnoses, including cystadenoma, mucinous adenocarcinoma, sarcoma, and abscesses, have distinct imaging features, which can enable the informed radiologist to identify the diagnosis and recommend appropriate clinical workup and management. (©)RSNA, 2016.

Cervical Spinal Meningeal Melanocytoma Presenting as Intracranial Superficial Siderosis.

Meningeal melanocytoma is a rare pigmented tumor of the leptomeningeal melanocytes. This rare entity results in diagnostic difficulty in imaging unless clinical and histopathology correlation is performed. In this case report, we describe a case of meningeal melanocytoma of the cervical region presenting with superficial siderosis. Extensive neuroradiological examination is necessary to locate the source of the bleeding in such patients. Usually, the patient will be cured by the complete surgical excision of the lesion.

Case series: Nocardiosis of the brain and lungs.

Localized and multisystem nocardiosis is an opportunistic disease that occurs commonly in immunocompromised patients. Rarely, it is also seen in immunocompetent individuals. The lungs and brain are commonly involved. Typical, but nonspecific, findings are often seen on imaging and the presence of concomitant lesions in these two systems often suggests this diagnosis. We report two cases of cerebral and pulmonary involvement by nocardiosis.

Aneurysmal bone cyst of the temporal bone.

Aneurysmal bone cyst (ABC) of the temporal bone is rare. The nature of the underlying disorder that converted into the ABC might, however, be difficult to ascertain on imaging as well as on histopathology. The unusual CT and MRI findings in a case of ABC of the temporal bone are presented. This had transdural intracerebral spread with a large component of solid enhancing matrix but no peripheral calcific rim. The patient was an adult of 45 years with a history of headache for more than 1 year.

CT and MRI in the diagnosis of tuberculosis.

The advent of CT and MRI imaging in the last two decades has redefined the approach and analysis of various diseases including tuberculosis. Tuberculosis afflicts hollow and solid viscera. Genitourinary, hepatobiliary and adrenal tuberculosis is uncommon in children. CT and MRI have however shown several advantages over conventional radiology and other imaging modalities in early diagnosis and follow-up of tuberculosis in different parts of the body.