scholarly journals Maffucci’s Syndrome –a Case Report of Rare Connective Tissue Disorder

2018 ◽  
Vol 20 (1) ◽  
pp. 67
Author(s):  
Jamiul Hossain ◽  
Hosne Ara Rahman ◽  
Samira Sharmin ◽  
Jesmine Ferdous

<p>Maffucci’s syndrome comprises of multiple venous malformations in combination with dyschondroplasia and a variety of cutaneous, vascular, chondro-osseous and other benign and malignant mesodermal growths. This report describes the case of a 20 -year-male patient with a clinical diagnosis of Maffucci syndrome with multiple lobulated sof tissue swelling with phleboliths in left upper and lower limbs. Significant findings were presence of multiple haemangiomas, enchondromas and pathological fractures- those were evaluated by X-ray, skeletal scintigraphy and ultrasound. Skeletal scintigraphy play an important role to see the extent of the disease.Early detection and surgical management of these tumors form the basis of its treatment and desirable outcome.</p><p>Bangladesh J. Nuclear Med. 20(1): 67-69, January 2017</p>

2017 ◽  
Vol 2 (1) ◽  

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.


2013 ◽  
Vol 02 (03) ◽  
pp. 169-171
Author(s):  
Siva Sree Ranga MK ◽  
Arun Kumar S Bilodi ◽  
Rijied Thompson Swer

AbstractA specimen of Sirenomelia from the department of Anatomy, Mahatma Gandhi Medical College and Research Institute, Pondicherry is presented here. This specimen was examined in detail and X-Ray was taken. On examination, the specimen showed i) Fused lower limb like a stump, ii) Undifferentiated genital organs, iii) Widely spaced nipples, iv) Receded chin and webbed neck, v) Low set large ears, vi) Epicanthal fold, vii) Flattened nose, viii) Absence of anal orifice. Fused lower limbs with associated undifferentiated genital organs and absence of anal orifice was found interesting to study and reported here as a case. The presence of Fused lower limb like a stump is suggestive of Sirenomelia and presence of i) Widely spaced nipples ii) Receded chin and webbed neck, iii) Low set large ears, v) Epicanthal fold, vi) Flattened nose is suggestive of Potter's Facies. It is presented here due to rarity of occurrence of such anomaly.


Skull Base ◽  
2007 ◽  
Vol 17 (S 1) ◽  
Author(s):  
Mirza Baig ◽  
David Dang ◽  
Gregory Christoforidis ◽  
Antonio Chiocca ◽  
Gabriel Josue

1970 ◽  
Vol 3 (1) ◽  
pp. 27-34
Author(s):  
Lucas Tavares Dos Santos ◽  
Tânia Massini Evangelista

Introdução: A hérnia diafragmática congênita é a falha do fechamento embrionário do músculo diafragmático, resultando em um defeito de continuidade. Esta patologia pode ocorrer pela passagem de estruturas do abdome através de um defeito no diafragma, ou haver herniação parcial do estômago através do hiato esofágico, paralisia frênica com deslocamento do conteúdo abdominal para cima, mas sem herniação, e, eventração do diafragma. Casuística: Foi relatado um caso de hérnia diafragmática congênita, hérnia de Bochdalek, em um recém – nascido do sexo feminino, que nos ultra-sonografias da gestante apresentavam sem alterações. O diagnóstico da patologia foi feito apenas após a realização de raios-X de tórax e abdome para confirmar a posição do cateterismo umbilical venoso. Discussão/Conclusão: A apresentação clínica da hérnia de diafragmática congênita inclui desconforto respiratório moderado a grave com repercussão sistêmica. O diagnóstico, em cerca de 80% dos casos, é feito por ultrassom pré-natal. O tratamento proposto foi intubação endotraqueal com ventilação mecânica e programação para correção cirúrgica da hérnia. Após correção cirúrgica da patologia, a paciente permaneceu na unidade de terapia intensiva neonatal por 21 dias para acompanhamento de pós – operatório e intercorrências na evolução. Palavras-chave: hérnia diafragmática congênita, recém-nascido, hérnia de BochdalekABSTRACTIntroduction: Congenital diaphragmatic hernia is the failure of embryonic closure of the diaphragm, resulting in a lack of continuity. This condition can occur by passing structures of the abdomen through a defect in the diaphragm, or be part herniation of the stomach through the esophageal hiatus, phrenic paralysis with displacement of abdominal contents up but no herniation, and eventration of the diaphragm. Case Report: We report a case congenital diaphragmatic hernia, such as Bochdalek hernia, in a new - born female that in ultrasounds of pregnant women showed without change. The diagnosis of the disease was made only after conducting X-ray of the chest and abdomen to confirm the position of umbilical venous catheterization. Discussion/Conclusion: Clinical presentation of congenital diaphragmatic hernia includes moderate to severe respiratory distress with systemic repercussions. The diagnosis in about 80% of the cases is done by ultrasound prenatally. The proposed treatment was endotracheal intubation with mechanical ventilation and programming for surgical correction of the hernia. After surgical pathology, the patient remained in neonatal intensive care unit for 21 days to monitor post - operative complications and evolution.  Keywords: congenital diaphragmatic hernia, newborn, Bochdalek hernia 


2012 ◽  
Vol 2012 (oct19 1) ◽  
pp. bcr2012007047-bcr2012007047 ◽  
Author(s):  
M. Sonar ◽  
M. Isik ◽  
A. Y. Ekmekci ◽  
O. A. Solmaz

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yumin Jo ◽  
Jagyung Hwang ◽  
Jieun Lee ◽  
Hansol Kang ◽  
Boohwi Hong

Abstract Background Diffuse alveolar hemorrhage (DAH) is a rare, life-threatening condition that can present as a spectrum of nonspecific symptoms, ranging from cough, dyspnea, and hemoptysis to severe hypoxemic respiratory failure. Perioperative DAH is frequently caused by negative pressure pulmonary edema resulting from acute airway obstruction, such as laryngospasm, although hemorrhage itself is rare. Case presentation This case report describes an unexpected hemoptysis following monitored anesthesia care for vertebroplasty. A 68-year-old Asian woman, with a compression fracture of the third lumbar vertebra was admitted for vertebroplasty. There were no noticeable events during the procedure. After the procedure, the patient was transferred to the postanesthesia care unit (PACU), at which sudden hemoptysis occurred. The suspected airway obstruction may have developed during transfer or immediate arrive in PACU. In postoperative chest x-ray, newly formed perihilar consolidation observed in both lung fields. The patients was transferred to a tertiary medical institution for further evaluation. She diagnosed with DAH for hemoptysis, new pulmonary infiltrates on chest x-ray and anemia. The patient received supportive care and discharged without further events. Conclusions Short duration of airway obstruction may cause DAH, it should be considered in the differential diagnosis of postoperative hemoptysis of unknown etiology.


Insects ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 302
Author(s):  
Marek Michalski ◽  
Piotr Gadawski ◽  
Joanna Klemm ◽  
Krzysztof Szpila

The only European Stratiomyidae species known for feeding on human corpses was the black soldier fly Hermetia illucens (Linnaeus, 1758). Analysis of fauna found on a human corpse, discovered in central Poland, revealed the presence of feeding larvae of another species from this family: the twin-spot centurion fly Sargus bipunctatus (Scopoli, 1763). The investigated corpse was in a stage of advanced decomposition. The larvae were mainly observed in the adipocere formed on the back and lower limbs of the corpse, and in the mixture of litter and lumps of adipocere located under the corpse. Adult specimens and larvae were identified based on morphological characters, and final identification was confirmed using DNA barcoding. Implementing a combination of morphological and molecular methods provided a reliable way for distinguishing the larvae of S. bipunctatus and H. illucens. The potential of S. bipunctatus for practical applications in forensic entomology is currently difficult to assess. Wide and reliable use of S. bipunctatus in the practice of forensic entomology requires further studies of the bionomy of this fly.


2001 ◽  
Vol 87 (2) ◽  
pp. 111-112
Author(s):  
Jon Matthews ◽  
Giles W Beck ◽  
Douglas M G Bowley ◽  
Andrew N Kingsnorth

AbstractThe case of a 31 year old male presenting as an emergency with a recurrent colonic volvulus is described. A chest X-ray on admission to hospital showed the presence of hepato-diaphragmatic interposition of the colon, Chilaiditi’s Sign, which is known to be a risk factor for colonic volvulus. This is only the fourth reported case of colonic volvulus in association with Chilaiditi’s Syndrome and the first with recurrent colonic volvulus. The optimal treatment for recurrent volvulus in patients with risk factors such as Chilaiditi’s Syndrome or megacolon is also discussed.


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