Cases journal最新文献

Introduction: Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported.

Case presentation: This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family. Since his birth a specific posture was noted: internal rotation at the shoulders, extension at the elbows, and flexion at the wrists. In addition, the child has a severe equinovarus deformity of the feet. Syndactily between II and III finger was also noted. His face is round with a frontal midline capillary hemangioma, while his jaw appears to be small. Mental development is normal. The karyotype is: 46, XY.

Conclusions: About 150 syndromes have arthrogryphosis as a presenting sign. AMC is a distinct entity and distinction with the distal forms of arthrogryphosis can be difficult, since there is a considerable clinical and genetic heterogeneity. A comprehensive musculoskeletal evaluation and genetic consultation is necessary.

Toxic Epidermal Necrolysis and Steven-Johnson syndrome are entities on a spectrum of cutaneous reactions that usually occur as an idiosyncratic reaction to certain drugs. The distinction between TEN and SJS is based on the percentage of skin involved with SJS being less than 10% and TEN being more than 30%. They exhibit severe skin blistering and sloughing with mucosal involvement and can be fatal in many cases. Discontinuation of the offending agent is mandatory together with reduction of skin manipulation and avoiding infection. Plasmapharesis, intravenous immunoglobulins and immunosuppressants have been used with conflicting results. In this manuscript we are describing a 22 year old female patient from Egypt who presented with severe skin sloughing with mucosal involvement following carbamazepine therapy. The incriminated drug was discontinued and urgent life saving therapy in the form of broad spectrum antibiotic, immunosuppression with cyclophosphamide, Intensive Care Unit admission and nursing care was started followed by dramatic response. The clinical presentation, pathogenesis and modalities of treatment will be described in details.

We report an unusual patient with primary adenocarcinoma of lung causing malignant pleural and pericardial effusions. The diagnosis was made only at autopsy as his staging computed tomography scan of chest was negative for an obvious mass lesion within the lung or pleura. Prior to his death, his symptoms were erroneously managed as left ventricular failure and community-acquired pneumonia.

Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts. Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome. He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing and hypertelorism. Characteristic cutaneous manifestation (nevoid basal cell carcinoma) was not present in this patient. The jaw cysts were treated with marsupialization then enucleation. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cystlike radiolucencies are discovered on panoramic view.

Background: Chronic expanding haematoma (CEH) is a very infrequent event with imprecise developmental mechanism and is rarely reported in literature.

Case presentation: We present a case of enormous and spontaneous chronic haematoma of the back, expanded from the lower thoracic area to the sacral area, in a young patient without any history of trauma or chronic coagulopathy.

Conclusion: The MRI scan is very useful in preoperative diagnosis, however only the histopathological examination is able to perform the differential diagnosis with soft tissue tumors. Careful surgical treatment is important to minimize the haematoma recurrence.

Small cell carcinoma of the anus is a very rare but aggressive tumour. We present a case of a 60-year old lady with small cell carcinoma of the anus. She had no metastatic disease on presentation. She had chemotherapy and radiotherapy but developed distant metastasis after completion of treatment. Immunohistochemistry is required to make a diagnosis. Chemotherapy remains the mainstay of treatment for small cell carcinoma of the anus with or without metastatic disease. Radiotherapy is for local control and relief of symptoms.

We report the case of a 4-year-old girl presenting with the retroperitoneal epidermoid cyst. The lesion presented as an intra-abdominal cyst on physical examination and was followed up with more specific investigations by ultrasound and computed tomographic scanning. The final diagnosis was obtained only after laparotomy where the cystic mass was completely excised and pathological examination was done. The patient is well at 3-year follow-up. epidermoid cyst of the reteroperitoneal space, although rare, should be considered in the differential diagnosis of incidentally discovered intra-abdominal cysts during investigation of irrelevant illnesses or during routine abdominal ultrasound scan.

Introduction: The dissecting aneurysm of renal artery is a form of renal artery occlusive disease that is infrequently recognized in the literature. However, when encountered, it is of great clinical significance because symptoms related to aneurysm are rarely seen and there is risk of its rupture.

Case presentation: The present case was a 30 year old Indian male, who presented with recurrent episodes of pain mimicking renal colic, which turned out to be a ruptured dissecting aneurysm of renal artery on exploration. The patient could not be salvaged due to delay in the diagnosis.

Conclusion: This report highlights that rupture of renal artery aneurysm is a rare but potentially lethal clinical entity and should be considered as one of the differential diagnosis in patients with severe and persistent renal colicky type of pain in the absence of obvious findings on routine investigations.

Introduction: Gingival margin position in relation to synthetic crowns and crown length could be etiological factors in gingival health.

Case presentation: A 27-year-old male presented with necrotizing ulcerative gingivitis with short clinical crowns suggestive of altered passive eruption. Three years after the initial diagnosis, he presented with crowns on the maxillary incisors. There were short clinical crowns and marked gingival inflammation.

Conclusion: Placement of the crown margin could be an etiological factor in gingival inflammation. Therefore, should the margin be subgingival, equigingival or supragingival?

Introduction: Endometrial cancer is the most common gynecologic malignancy. Most women present with abnormal vaginal bleeding. Cervical stenosis can prevent early uterine bleeding leading to delayed diagnosis of the disease.

Case presentation: A 67 years old Caucasian woman presented with three days history of right flank pain and difficulty in urination. Her medical history included cervical cautery due to ectropion 15 years previously. In physical exam a huge cystic mass that proved to be a large hematocervix was bulging in the vagina. Computed tomography of the abdomen revealed a distended cervix adjacent to distended urinary bladder secondary to endometrial cancer.

Conclusion: To our knowledge this is the first case report describing acute urinary retention secondary to hematocervix. Cervical stenosis is common in elderly postmenopausal women and can prevent early manifestation of endometrial pathology and can be associated with local complications.