A case of diprosopus: a rare form of twinning radiology-pathology correlation

2020 ◽  
Vol 9 (1) ◽  
Author(s):  
Xiao-Zhou Du ◽  
Marc R. Del Bigio ◽  
Camelia Stefanovici ◽  
Elka Miller ◽  
Charity Fan ◽  
...  
Keyword(s):  
Frontal Lobe ◽  
Multimodality Imaging ◽  
English Literature ◽  
Conjoined Twins ◽  
Developmental Anomaly ◽  
Rare Form ◽  
Case Presentation ◽  
Partial Duplication ◽  
Cardiac Anomalies ◽  
Close Proximity

AbstractObjectivesDiprosopus is a rare subtype of conjoined twinning, with approximately 30 reported cases in English literature. Due to the rarity of conjoined twins, the mechanism leading to this developmental anomaly is not yet understood.Case presentationWe present a case of diprosopus with multimodality imaging (prenatal and postnatal), and with pathological correlations. Developmental anomalies include partial duplication of frontal lobes, formation of a midline “third” frontal lobe, as well as orofacial and cardiac anomalies. The constellation of anomalies coincide with development during embryonic days 23–26, where the anterior prosencephalon, prechordal plate/oropharyngeal membrane, and cardiogenic plate are in very close proximity to each other.ConclusionsThis case offers an opportunity to better appreciate the radiologic and pathologic manifestations of diprosopus, and adds to the current body of evidence.

Janiceps Conjoined Twins with Extreme Asymmetry: Case Report with Complete Autopsy and Histopathologic Findings

2009 ◽  
Vol 12 (5) ◽  
pp. 374-382 ◽  
Author(s):  
Hannah A. Kastenbaum ◽  
Elizabeth W. McPherson ◽  
Geoffrey H. Murdoch ◽  
John A. Ozolek
Keyword(s):  
Case Report ◽  
Conjoined Twins ◽  
The Other ◽  
Rare Form ◽  
Partial Duplication ◽  
Microscopic Pathology ◽  
Histopathologic Findings

Conjoined twinning is a rare form of twinning, in which 2 bodies are attached, and is classified according to the anatomic place of attachment. An extremely rare form of conjoined twinning is janiceps conjoined twinning, in which 2 faces are attached but oriented in opposite directions. In this report, we present an unusual and difficult-to-classify case of conjoined male twins with partial duplication of craniofacial, upper oropharyngeal, and cardiac organs. We believe this to be one of the few reported cases of janiceps asymmetrus. We describe in detail the gross and microscopic pathology and offer some insights into the possible embryogenesis and distinction from the other rare form of conjoined twinning with facial duplication, diprosopus.

scholarly journals Successful treatment of acquired reactive perforating collagenosis with itraconazole

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Binrong Ye ◽  
Yi Cao ◽  
Yeqiang Liu
Keyword(s):  
Skin Biopsy ◽  
Fungal Infection ◽  
Successful Treatment ◽  
Rare Form ◽  
Case Presentation ◽  
Therapeutic Benefits ◽  
Immunological Tests ◽  
Anti Inflammatory ◽  
Reactive Perforating Collagenosis

Abstract Background Acquired reactive perforating collagenosis (ARPC) is a rare form of transepithelial elimination in which altered collagen is extruded through the epidermis. Case presentation A 23-year-old male presented with cup-like ulcerated lesions on his limbs since 3 months. A series of serological and immunological tests showed no abnormalities. A diagnosis of ARPC was based on skin biopsy findings. The patient was cured using treatment with itraconazole for 8 weeks, in the absence of a fungal infection. Conclusions The anti-inflammatory and anti-angiogenic effects of itraconazole can have good therapeutic benefits for ARPC.

The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

2020 ◽  
Vol 33 (12) ◽  
pp. 1605-1608
Author(s):  
Xiao Qin ◽  
Jingzi Zhong ◽  
Dan Lan
Keyword(s):  
Diabetes Mellitus ◽  
Novel Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Rare Form ◽  
Case Presentation ◽  
Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

Concurrent Thoracic Spinal Intradural Extramedullary Epidermoid and Neurenteric Cyst in a Spinal Dysraphism Child

2021 ◽  
pp. 1-7
Author(s):  
Rajeev Sharma ◽  
Swati Mahajan ◽  
Minakshi Bhardwaj ◽  
Laxmi Naraian Gupta ◽  
Deepak Gupta
Keyword(s):  
Surgical Planning ◽  
English Literature ◽  
Spinal Dysraphism ◽  
Neurenteric Cyst ◽  
Germ Layers ◽  
Case Presentation ◽  
Spinal Lesions ◽  
Congenital Origin ◽  
Thoracic Spinal ◽  
Intradural Extramedullary

<b><i>Introduction:</i></b> Intraspinal epidermoid cysts are congenital or acquired in origin; whereas intraspinal neurenteric cysts (NECs) are of congenital origin. Their individual association with spinal dysraphism and vertebral segmentation anomalies is very well known. <b><i>Case presentation:</i></b> We hereby report a case of concurrent intradural extramedullary epidermoid and NEC at adjacent vertebral levels in a spinal dysraphism child, not reported in English Literature till now. <b><i>Conclusion:</i></b> Multiple spinal lesions related to any/all of the 3 germ layers can coexist at same or adjacent vertebral levels in the same patient and surgical planning shown to be done accordingly.

scholarly journals Pancake kidney with single draining ureter: a rare developmental anomaly

2020 ◽  
Vol 7 (5) ◽  
pp. 1679
Author(s):  
Shabi Ahmad ◽  
Vikas Mishra ◽  
Shirish Mishra
Keyword(s):  
Abdominal Pain ◽  
Congenital Malformation ◽  
Male Child ◽  
Developmental Anomaly ◽  
Rare Form ◽  
Presenting Symptoms ◽  
Recurrent Uti

Pancake kidney is one of rare form of congenital developmental anomaly of kidney. Very rarely it is drained by a single ureter. We are reporting a case of pancake kidney with a single draining ureter. The diagnosis was made during the routine workup for abdominal pain and UTI in a 12 year old male child. Usually pancake kidney may be associated with other congenital malformation but in our case we did not find any. Pancake kidney is managed surgically as well as conservatively depending upon the presenting symptoms and problem. This case was managed conservatively for recurrent UTI.

scholarly journals A young adult with COVID-19 and multisystem inflammatory syndrome in children (MIS-C)-like illness: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Aaron D. Kofman ◽  
Emma K. Sizemore ◽  
Joshua F. Detelich ◽  
Benjamin Albrecht ◽  
Anne L. Piantadosi
Keyword(s):  
Cardiac Dysfunction ◽  
Clinical Characteristics ◽  
Kidney Injury ◽  
Clinical Findings ◽  
Low Grade ◽  
Rare Form ◽  
Case Presentation ◽  
Lymph Node Swelling ◽  
Inflammatory Syndrome

Abstract Background A healthy 25-year-old woman developed COVID-19 disease with clinical characteristics resembling Multisystem Inflammatory Syndrome in Children (MIS-C), a rare form of COVID-19 described primarily in children under 21 years of age. Case presentation The patient presented with 1 week of weakness, dyspnea, and low-grade fevers, followed by mild cough, sore throat, vomiting, diarrhea, and lymph node swelling. She was otherwise healthy, with no prior medical history. Her hospital course was notable for profound acute kidney injury, leukocytosis, hypotension, and cardiac dysfunction requiring ICU admission and vasopressor support. MIS-C-like illness secondary to COVID-19 was suspected due to physical exam findings of conjunctivitis, mucositis, and shock. She improved following IVIG, aspirin, and supportive care, and was discharged on hospital day 5. Conclusion MIS-C-like illness should be considered in adults presenting with atypical clinical findings and concern for COVID-19. Further research is needed to support the role of IVIG and aspirin in this patient population.

scholarly journals Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report

2020 ◽  
Vol 25 (1) ◽  
Author(s):  
Kay T. Pham ◽  
Duraisamy Balaguru ◽  
Varaha S. Tammisetti ◽  
Carlos J. Guevara ◽  
John C. Rasmussen ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Near Infrared ◽  
Surgical Intervention ◽  
Multimodality Imaging ◽  
Rare Complication ◽  
Genetic Disorder ◽  
Case Presentation ◽  
Drainage Patterns ◽  
Lymphatic Imaging ◽  
Cardiac Operations

Abstract Background Chylothorax is a rare complication of pediatric cardiac operations that occurs more frequently in children with Noonan syndrome, a genetic disorder associated with cardiac defects and lymphatic anomalies. Case presentation We report a case of postoperative chylothorax in a 6-month-old infant with Noonan syndrome where multimodality lymphatic imaging guided management was followed. Drainage patterns of the lymphatic capillaries in the lower and upper extremities were visualized during near-infrared fluorescence lymphatic imaging (NIRFLI). Dynamic magnetic resonance lymphangiography (MRL) further identified the site of leakage in the thoracic duct and subsequently guided surgical intervention. Conclusions Application of multimodality imaging allows for greater individualization of treatment and should be considered in patients with complex cases such as those with syndromes associated with a higher incidence of chylothorax. IRB Number: HSC-MS-13–0754, December 10, 2013

scholarly journals Penetrating knife injury to the frontal lobe – a case report

2010 ◽  
Vol 92 (6) ◽  
pp. e41-e42 ◽  
Author(s):  
Aakshay Gulati ◽  
Badri Srinivasan ◽  
Roger Hunter ◽  
Timothy R Flood
Keyword(s):  
Case Report ◽  
Frontal Lobe ◽  
Neurological Deficit ◽  
Cerebral Circulation ◽  
Penetrating Injuries ◽  
Stab Injury ◽  
Close Proximity ◽  
Cranial Fossa ◽  
Knife Injury ◽  
Orbital Region

Penetrating injuries of the craniofacial region are increasing and have the potential to cause severe vascular and neurological deficit. We present our management of a case with a knife stab injury to the infra-orbital region, traversing the orbit and penetrating into the anterior cranial fossa, the tip lying in close proximity to the anterior cerebral circulation.

Coral reef aorta: case report and review of the literature

Vascular ◽  
2013 ◽  
Vol 21 (4) ◽  
pp. 251-259 ◽  
Author(s):  
Aleksandra Policha ◽  
Neil Moudgill ◽  
Joshua Eisenberg ◽  
Atul Rao ◽  
Paul DiMuzio
Keyword(s):  
Case Report ◽  
Coral Reef ◽  
Lower Extremity ◽  
English Literature ◽  
Lower Extremities ◽  
Retroperitoneal Approach ◽  
Review Of The Literature ◽  
Rare Form ◽  
Arterial Insufficiency

Coral reef aorta (CRA) is a rare form of atherosclerosis that affects the paravisceral and pararenal aorta and its branches. Patients typically present with arterial insufficiency of the bowels, kidneys and lower extremities. The current mainstay of treatment is operative, typically involving transaortic endarterectomy. Herein, we describe a 54-year-old woman with incapacitating lower extremity claudication secondary to a paravisceral coral reef atheroma treated successfully with transaortic endarterectomy via a left retroperitoneal approach. In addition, we present a complete review of modern English literature on CRA.

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