Jejunoduodenal intussusception caused by a solitary polyp in a woman with Peutz-Jeghers syndrome: a case report

Introduction

Peutz-Jeghers syndrome is a rare autosomal dominant disorder characterized by hamartomatous polyps and characteristic mucocutaneous pigmentation. The hamartomatous polyps of Peutz-Jeghers syndrome can cause intestinal occlusion, especially in the small intestine. Intussusception is seen frequently in children, but rarely in adults.

Case presentation

We present the case of a 21-year-old female patient who was admitted to our emergency service with symptoms of ileus as a result of intussusception due to duodenal polyps. Radiological and endoscopic findings determined a jejunoduedonal intussusception. After an unsuccessful endoscopic attempt, a laparotomy was performed that revealed a polypoid mass originating from the fourth part of her duodenum, with intussusception of her proximal jejunum.

Conclusion

Intussusception caused by Peutz-Jeghers syndrome is a rare diagnosis and is mostly jejunojejunal or jejunoileal. Despite the fact that a few duodenojejunal cases have been reported, this is to the best of our knowledge the first case of jejunoduedonal intussusception in a patient with Peutz-Jeghers syndrome to be described in the literature.     

Rare causes of scoliosis and spine deformity: experience and particular features

Background

Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities.

Methods

A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002). The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case.

Results

In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness). Nine of these patients were surgically treated. Surgery was avoided in 3 patients.

Conclusion

This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.     

Les torsions du cordon spermatique chez l’adulte au CHU Yalgado Ouédraogo de Ouagadougou

Objective

To evaluate the epidemiologic, diagnostic and therapeutic features of testicular torsion in adults aged 15 years and older.

Materials and methods

A retrospective study was conducted from January 2004 to June 2010 in the general surgery emergency unit and urology department of the CHU Yalgado-Ouedraogo of Ouagadougou (Burkina Faso). Medical records of 51 patients who were suspected of torsion of spermatic cord were included in this study.

Results

Torsion of spermatic cord was confirmed in 40 patients (78.4%) after scrotal exploration. The average age was 26 years (range 16–55 years). The average duration from the time of onset of pain to arrival at the emergency department was 24.6 hours, and 84.3% of the patients arrived after 6 hours. Hemi-scrotal tumefaction and ascended testicle were the main clinical findings. Orchidectomy was performed in 22 patients (55%). Post-operative findings were good for all patients, and the average hospital stay was 4.3 days (range 2–7 days).

Conclusion

In our study, a high proportion of patients underwent orchidectomy. We suggest that actions must be taken to educate men about testicular pain and to receive timely treatment in case of any testicular pain.     

Maladie de La Peyronie: Bilan IRM chez 28 patients

Purpose

to determine diagnosis and prognosis value of MRI in Peyronie’s disease.

Material and Methods

thirty one penile MR examinations have been performed in 28 patients aged between 21 and 73. (1 tesla; surface coil; sagittal SET1, axial SET2 weighted, T1 before and after Gadolinium)

- In all cases but one, fibrous plaques were clinically palpable.

- Images were compared with clinical examination and evolution under anti-inflammatory drugs.

Results

- In 3 cases, MRI misdiagnosed one unique plague.

- In 2 additional cases, one of the 2 clinical plaques was not detected.

- In 5 cases, MRI depicted more lesions than palpation.

- Gadolinium Enhancement was always correlated with a good response to anti-inflamatory drugs but this treatment was also useful in one case who showed no enhancement.

Conclusion

MRI can be helpfull in the pretreatment assessment and int he follow-up of Peyronie’s disease.     

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

Background

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Clinically the disorder is characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Severe hypotonia usually leads to delay in gross motor development, whereas cognitive development is reported to be normal.

Methods

We describe the clinical, biochemical and molecular characterisation, as well as electron microscopy findings of skin, in 15 patients newly diagnosed with this rare type of Ehlers-Danlos syndrome.

Results

Age at diagnosis ranged from 5 months to 27 years, with only 1/3 of the patients been diagnosed correctly in the first year of life. A similar disease frequency was found in females and males, however a broad disease severity spectrum (intra- and interfamilial), independent of molecular background or biochemical phenotype, was observed. Kyphoscoliosis, one of the main clinical features was not present at birth in 4 patients. Importantly we also noted the occurrence of vascular rupture antenatally and postnatally, as well as developmental delay in 5 patients.

Conclusion

In view of these findings we propose that EDS VIA is a highly variable clinical entity, presenting with a broad clinical spectrum, which may also be associated with cognitive delay and an increased risk for vascular events. Genotype/phenotype association studies and additional molecular investigations in more extended EDS VIA populations will be necessary to further elucidate the cause of the variability of the disease severity.     

Painful rib hump: a new clinical sign for detecting intraspinal rib displacement in scoliosis due to neurofibromatosis

Background

Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature. The aim of this report is to present a case of rib penetration through neural foramen at the apex of a scoliotic curve in neurofibromatosis and to introduce a new clinical sign for its detection.

Methods

A 13-year-old girl was evaluated for progressive left thoracic kyphoscoliotic curve due to a type I neurofibromatosis. Clinical examination revealed multiple large thoracic and abdominal "cafe-au-lait" spots, neurological impairment of the lower limbs and the presence of a thoracic gibbous that was painful to pressure at the level of the left eighth rib (Painful Rib Hump). CT-scan showed detachment and translocation of the cephalic end of the left eighth rib into the adjacent enlarged neural foramen. The M.R.I. examination of the spine showed neither cord abnormality nor neurogenic tumor.

Results

The patient underwent resection of the intraspinal mobile eighth rib head and posterior spinal instrumentation and was neurologically fully recovered six months postoperatively.

Conclusion

Spine surgeons should be aware of intraspinal rib displacement in scoliotic curves in neurofibromatosis. Painful rib hump is a valuable diagnostic tool for this rare clinical entity.     

"Scleroderma linearis: hemiatrophia faciei progressiva (Parry-Romberg syndrom) without any changes in CNS and linear scleroderma "en coup de sabre" with CNS tumor

Background

Hemifacial atrophy (Parry-Romberg syndrome) is a relatively rare disease. The etiology of the disease is not clear. Some authors postulate its relation with limited scleroderma linearis. Linear scleroderma "en coup de sabre" is characterized by clinical presence of most commonly one-sided linear syndrome. In a number of patients, neurological affection is the medium of the disease. The treatment of both scleroderma varieties is similar to the treatment of limited systemic sclerosis.

Case presentation

We present two cases of a disease: a case of a 49-year-old woman with a typical image of hemifacial atrophy, without any changes of the nervous system and a case of a 33-year-old patient with an "en coup de sabre" scleroderma and with CNS tumor.

Conclusion

We described typical cases of a rare diseases, hemifacial atrophy and "en coup de sabre" scleroderma. In the patient diagnosed with Parry-Romberg syndrome, with Borrelia burgdoferi infection and with minor neurological symptoms, despite a four-year case history, there was a lack of proper diagnosis and treatment. In the second patient only skin changes without any neurological symptoms could be observed and only a precise neurological diagnosis revealed the presence of CNS tumor.     

Clinical presentation and diffusion weighted MRI of acute cerebral infarction. The Bergen Stroke Study

Background

No large study has compared the yield of diffusion-weighted imaging (DWI) with clinical examination in order to differentiate lacunar stroke from other stroke subtypes. This differentiation is important for guiding further investigations and treatment.

Methods

Consecutive patients admitted with cerebral infarction were classified according to the Oxfordshire Community Stroke Project scale. Based on DWI and CT stroke was classified as lacunar (LI) and non-lacunar (NLI). Acute ischemic lesion <1.5 cm and located in subcortex or in brainstem were classified as LI. All other infarctions were classified as NLI.

Results

DWI was performed in 419 (69%) patients. Among patients with lacunar syndrome (LACS) 45 (40.5%) had NLI on DWI. All patients with total anterior syndrome (TACS) and 144 (88.3%) with partial anterior syndrome (PACS) had NLI on DWI.

Conclusion

DWI is important among patients presenting with clinical symptoms suggestive of lacunar syndrome to differentiate between LI and NLI. On the other hand, there is good correspondence between TACS or PACS and NLI on DWI.     

Widespread enlarged perivascular spaces associated with dementia and focal brain dysfunction: case report

Background

Enlarged perivascular spaces (PVS) are common magnetic resonance imaging (MRI) findings, whereas widespread enlarged PVS are extremely rare. Although most patients with widespread enlarged PVS remain asymptomatic, some develop neurological dysfunctions; however, it remains unclear whether these are the consequence of widespread enlarged PVS.

Case presentation

A 64-year-old female patient developed consciousness disturbance, cognitive dysfunctions, fluent aphasia, agraphia, acalculia, and left-right disorientation after suffering from bronchopneumonia. Brain MRI revealed unusually widespread enlarged PVS predominantly in the left cerebral hemisphere. Following bronchopneumonia treatment, her cognitive dysfunction, fluent aphasia, agraphia, acalculia, and left-right disorientation persisted despite improvement of her general condition. Furthermore, the hypoperfusion area on single photon emission computed tomography and slow wave sites on electroencephalography were consistent with the location of enlarged PVS, indicating that severe enlarged PVS impaired focal brain functions.

Conclusions

This case suggested that widespread enlarged PVS could be a potential cause of neurological deficits. We propose that impaired perivascular circulation due to enlarged PVS might lead to focal brain dysfunction.

     

Congenital partial arhinia: a case report

Purpose

To describe the development of presumed immune-mediated stromal rejection after automated lamellar therapeutic keratoplasty (ALTK) and its reversal after initiation of intensive topical corticosteroid therapy.

Methods

Observational case report.

Results

Stromal edema localized in the graft developed 42 days after ALTK for Avellino corneal dystrophy in a 65-year-old man. After one week of intensive topical corticosteroids, complete reversal of graft edema occurred, with full recovery of visual function.

Conclusion

The clinical appearance and response to therapy in this case supported the diagnosis of immune-mediated stromal rejection. Ophthalmologists should be aware that stromal rejection may occur in lamellar corneal grafts.     

Clinical significance of antibodies to Ro52/TRIM21 in systemic sclerosis

Introduction

Autoantibodies to Ro52 recently identified as TRIM21 are among the most common autoantibodies in systemic autoimmune rheumatic diseases, but their clinical association remains poorly understood. We undertook this study to determine the clinical and serologic associations of anti-Ro52/TRIM21 antibodies in patients with systemic sclerosis (SSc).

Methods

Detailed clinical data and sera from 963 patients with SSc enrolled in a multicenter cohort study were collected and entered into a central database. Antibodies to Ro52/TRIM21 and other autoantibodies were detected with an addressable laser-bead immunoassay and different enzyme-linked immunosorbent assay (ELISA) systems. Associations between anti-Ro52/TRIM21 antibodies and clinical and other serologic manifestations of SSc were investigated.

Results

Anti-Ro52/TRIM21 antibodies were present in 20% of SSc patients and overlapped with other main SSc-related antibodies, including anti-centromere (by immunofluorescence and centromere protein (CENP)-A and CENP-B ELISA), anti-topoisomerase I, anti-RNA polymerase III, and anti-Pm/Scl antibodies. Anti-Ro52/TRIM21 antibodies were strongly associated with interstitial lung disease (odds ratio (OR), 1.53; 95% confidence interval (CI), 1.11 to 2.12; P = 0.0091) and overlap syndrome (OR, 2.06; 95% CI, 1.01 to 4.19; P = 0.0059).

Conclusions

Anti-Ro52/TRIM21 antibodies were the second most common autoantibodies in this SSc cohort. In SSc, anti-Ro52/TRIM21 antibodies may be a marker of interstitial lung disease and overlap syndrome.     

Death-related gastric necrosis after Laparoscopic Adjustable Gastric Banding in the early post-operative period

Background

Although mediastinal tumors compressing or invading the superior vena cava represent the major causes of the superior vena cava syndrome, benign processes may also be involved in the pathogenesis of this medical emergency. One of the rarest benign causes is a pseudoaneurysm developing in patients previously having heart surgery.

Case report

We present the case of a large pseudoaneurysm of the ascending aorta, five years after primary surgery, with a significant compression of the right mediastinal venous system causing superior vena cava syndrome, detected at chest CT angiography. Perioperative findings showed two rush out points both coming from the distal aortic suture line which was performed five years ago. The patient underwent reoperation under circulatory arrest facilitating safe exploration and repair of the distal anastomotic leaks

Conclusion

Enhanced chest CT should be always undertaken in all patients with superior vena cava syndrome, especially in those previously having cardiac or aortic surgery to correctly evaluate the presence of a pseudoaneurysm. Mass effect to the superior vena cava makes necessary an open surgical treatment of the pseudoaneurysm so as to concurrently resolve the right mediastinal venous system's compression. Surgery should be performed in terms of safe approach to avoid exsanguination and cerebral malperfusion.     

The eleventh reported case of Mulvihill-Smith syndrome in the literature

Background

The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.

Case presentation

This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.

Conclusions

Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.     

Extrapontine myelinolysis presenting as acute parkinsonism

Background

Extrapontine myelinolysis presenting with extra pyramidal features suggestive of parkinsonism may be a challenging clinical syndrome. Clinicians should maintain their vigilance while correcting electrolyte imbalances, especially with associated co-morbidity.

Case presentation

A 41-year-old woman presented with acute parkinsonism like features while on a holiday. This followed slow correction of hyponatraemia after repeated vomiting. MRI changes were suggestive of Extrapontine myelinolysis(EPM). This case is at variance with four previous cases reported in the medical literature in that the patient made a full clinical recovery and the MR changes resolved with symptomatic support alone.

Conclusion

Extrapontine myelinolysis could make a complete recovery with symptomatic support alone. During hyponatraemia correction, rapid osmotic shifts of fluid that cause hypernatremia, causes myelinolysis rather than absolute serum sodium level. Even gradual correction of hyponatraemia can produce myelinolysis, especially with pre-existing malnourishment, alcoholism, drug misuse, Addison's disease and immuno-suppression. Pallidial sparing is typical of EPM in MRI scans.     

Localized early mesenteric Castleman's disease presenting as recurrent intestinal obstruction: a case report

Introduction

Pleomorphic adenoma is the most common benign neoplasm of the salivary glands. Extensive lipomatous involvement of the tumor is, however, a very rare finding.

Case report

Herein, a rare case of lipomatous pleomorphic adenoma arising in the parotid gland of a 14-year-old Japanese woman is presented.

Conclusion

This is the sixth case of lipomatous pleomorphic adenoma in the English literature. Recognition of this rare subtype of pleomorphic adenoma is important for clinical diagnosis and management. On CT scan, it may not be detected possibly due to the extensive fatty component.     

Paraneoplastic limbic encephalitis presenting as a neurological emergency: a case report

Introduction

Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by defective dentin development with clinically normal appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers, short, blunted and malformed or absent roots and peri-apical radiolucencies of non carious teeth.

Case presentation

We present a case of dentin dysplasia type I in a 12-year-old Iranian boy, and the clinical, radiographic and histopathologic findings of this condition and treatment are described.

Conclusions

There are still many inconclusive issues in the diagnosis and management of patients with dentin dysplasia. The diagnostic features of this rare disturbance will remain incompletely defined until additional cases have been described. Early diagnosis of the condition and initiation of effective regular dental treatments may help these patients to prevent or delay loss of dentition.     

Fibroma with minor sex cord elements – an incidental finding in a normal sized ovary A case report with literature review

Background

Glomerulocystic kidney disease is an uncommon type of cystic renal disease. It is characterized by cortical microsysts, which are represented by cystic dilatation of Bowman's spaces.

Case presentation

We describe a case of glomerulocystic disease in a neonate and another in an abortus associated with tracheo-oesophageal fistula and megacystic-megaureter syndrome. The kidney on autopsy was sponge-like and revealed presence of cysts corresponding to dilatations of Bowman's space microscopically. In these two cases, the Glomerulocystic Kidney Disease in one case corresponded to a sporadic form and, in the other, to a syndromic, non-heritable form of glomerulocystic kidney disease.

Conclusion

The associated anomalies in Glomerulocystic Kidney disease are well described in the literature. Two more new unrelated associations are described in this article.     

Symptomatic pectus excavatum in seniors (SPES): a cardiovascular problem?: A prospective cardiological study of 42 senior patients with a symptomatic pectus excavatum

Objectives

There is no consensus among physicians as to whether or not pectus excavatum can produce symptoms sometimes even severe enough to justify a surgical procedure. The aim of this study was to assess the prevalence and severity of complaints and symptoms of senior patients with a pectus excavatum and to evaluate the results of surgical correction of the chest deformation.

Design

This is a prospective clinical study, case series.

Participants

The participants are 42 senior patients with a pectus excavatum and somatic complaints.

Methods

Cardiological screening included medical history taking, physical examination, electrocardiography, transthoracic echocardiography and treadmill cardiography. Complaints, symptoms and test results were arranged in a clinical score. Indication for a therapeutic surgical correction by a modified Ravitch operation was a high clinical score in combination with radiological evidence of cardiac compression on CT or MRI.

Results

The clinical picture of the 42 senior patients with a pectus excavatum showed complaints of fatigue and low exercise tolerance, shortness of breath, palpitations, inspiratory obstruction and sometimes chest discomfort or pain. The serious and sometimes invalidating complaints of 19 patients (45%) had started only in their fourth or fifth decade of life and were labelled in 12 patients (63%) as ‘Unexplained cardiovascular complaints’. To date, 11 patients have undergone surgical procedures. Symptoms were reduced substantially or had disappeared completely. All patients indicated that their health-related quality of life was significantly improved.

Conclusion

Recognising the clinical picture of SPES is relevant because surgical reconstruction of the chest can provide substantial relief of symptoms.     

A little help from my friends: caring for premature babies in a war zone

Background

Too much or too little milk production are common problems in a lactation consultant's practice. Whereas underproduction is widely discussed in the lactation literature, overabundant milk supply is not. In my practice I work with women who experience moderate to severe oversupply syndrome. In most cases the syndrome can be successfully treated with full removal of milk followed by unilateral breastfeeding ad lib with the same breast offered at every breastfeed in a certain time block ("block feeding").

Case presentations

Four cases of over-supply of breast milk are presented. The management and outcome of each case is described.

Conclusion

Overabundant milk supply is an often under-diagnosed condition in otherwise healthy lactating women. Full drainage and "block feeding" offer an adequate and userfriendly way to normalize milk production and treat symptoms in both mother and child.