Zeitschrift für klinische Fallberichte

Neurofibromatosis type 1 (NF1) is a rare genetic disorder where patients develop neurofibromas and have characteristic skin and eye findings. These patients have increased risks for certain types of cancers, especially of neural origin. Testicular cancer is a relatively common type of cancer for younger men, and is considered a very treatable malignancy if identified early. This report describes a patient with NF1 who had an initial chief complaint of back pain. A retroperitoneal mass was identified, but initial pathology report was epithelioid granulomas without necrosis, and was non-diagnostic. After the patient developed deep vein thrombosis as complication of the mass, a repeat biopsy would provide the diagnosis of typical seminoma. A second review by independent pathologists of the primary biopsy sample was also unable to appropriately diagnose the seminoma. This report illustrates how a clear pathological diagnosis can drastically alter the approach to the disease and change the prognosis in a patient with an already rare disorder.

We report a non-alcoholic man with Wernicke’s encephalopathy with history of pain abdomen and vomiting. MRI showed features consistent with Wernicke’s encephalopathy. Upper gastrointestinal endoscopy showed duodenal ulcer. We propose that peptic ulcer disease can cause thiamine malabsoption and Wernicke’s encephalopathy. A diagnosis of peptic ulcer disease may merit prophylactic thiamine therapy.

Male adolescent fourteen years old with Coarctation diagnosed at the age of eleven. He underwent cardiac catheterization with percutaneous balloon dilation and stent implantation. The immediate result was satisfactory but three years later a transverse fracture of the stent was detected on cardiac Magnetic Resonance Imaging with findings of moderate restenosis. This complication was treated with percutaneous implantation of a covered stent. The case of this adolescent is interesting because late fracture of aortic stent is a rare complication and covered stent implantation is a sufficient treatment whether or not there is recoarctation.

Background: Primary cancer may occur synchronously in two different organs.The presence of a renal primary cancer discovered by chance during staging prior to surgery of another cancer (caecum-colon) is not as rare an event as is believed. In this case report the authors report an interesting case of double malignancy in which a patient was struck by two separate carcinomas, carcinoma of the caecum and renal cell carcinoma. Case report: A 59-year-old male underwent screening with faecal occult blood test (FOBT) for colorectal cancer. The resulting positive test of which required a colonoscopy indicated the malignancy of the caecum-colon. Renal cell carcinoma was detected incidentally through Computed Tomography (CT) during preliminary investigations for the staging of the disease prior to surgery. The patient subsequently underwent simultaneous, radical, right nephrectomy and hemicolectomy. Both tumours were confirmed in pathologic evaluation, revealing chromophobe renal cell carcinoma and caecum- right colon adenocarcinoma. Conclusion: In conclusion, the elevated frequency of coexisting synchronous renal and colonic carcinomas, recommends routine use of preoperative imaging studies, in order to rule out coexistent, asymptomatic malignant lesions in patients with colorectal cancer.

A patient infected by human immunodeficiency virus type 2, developed shunt-responsive, normal pressure hydrocephalus. No other secondary cause including opportunistic infections, subarachnoid hemorrhage or trauma was detected, emphasizing the possible relationship between normal pressure hydrocephalus and infection by human immunodeficiency virus type 2. To the best of our knowledge, no human immunodeficiency virus type 2 patient with normal pressure hydrocephalus has been reported in the literature. This report aims to extend the spectrum of human immunodeficiency virus type 2 associated neurological complications.

Purpura fulminance is an infrequent acute cutaneous manifestation resulting from infective and non-infective conditions [1,2]. When a patient of known congenital cyanotic heart disease presents with peripheral skin rashes the initial cause that usually comes to mind is infective endocarditis.

Subcapsular hemorrhage is a well-known complication of parathyroid adenoma. However, extracapsular parathyroid hemorrhage can occur as a rare phenomenon. Here, we report the case of a patient with primary hyperparathyroidism manifesting as a cervical-mediastinal and retropleural hematoma and present an overview of previously reported cases.

Purpose: To describe the clinical features and to discuss the results of strabismus surgery or the natural course of ocular deviations in a group of patients with neurological problems.
Material and Methods: The medical records of patients with manifest ocular deviations and neurological
disorders were reviewed. The main outcome measures were the possible etiology of neurological impairment,
clinical features and the results of strabismus surgery.
Results: A total of 117 (60 males, 57 females) patients were enrolled in the study. The mean age of patients was
5.6 ± 4.4 years. 58 patients (49.6%) were lost from follow-up. The most common type of strabismus was esotropia
(56.4%). 36 patients (30.8%) underwent operations for strabismus. 13 patients (11.1%) had consecutive deviations
during follow-up period.
Conclusions: Ocular deviations may be associated with neurological impairment. Strabismus surgery may
provide good cosmesis in this group of patients. However, spontaneous and postoperative consecutive deviations
should be kept in mind.

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is caused by the lack of production or physiological response to gonadotropin releasing hormone (GnRH). A wide variety of genetic mutations have been implicated in the disorder demonstrating autosomal dominant, recessive and X-linked inheritance patterns. Diagnosis of IHH is complicated by its similarity in presentation to a constitutional delay of puberty (CDP) and often goes undiagnosed in patients under the age of 18. Once IHH is identified, the effects of the disturbed HPA axis must be addressed. In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27 year old male with undiagnosed IHH.

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is caused by the lack of production or physiological response to gonadotropin releasing hormone (GnRH). A wide variety of genetic mutations have been implicated in the disorder demonstrating autosomal dominant, recessive and X-linked inheritance patterns. Diagnosis of IHH is complicated by its similarity in presentation to a constitutional delay of puberty (CDP) and often goes undiagnosed in patients under the age of 18. Once IHH is identified, the effects of the disturbed HPA axis must be addressed. In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27 year old male with undiagnosed IHH.