Sneddon syndrome: a case report

Doxorubicin is cardiotoxic and its use must be monitored carefully. Incidence of refractory cardiac failure is shown to increase once the cumulative dose exceeds 450 mg/m2. However, significant decline of ejection fraction (EF) may occur even at lower dose levels. EF was monitored using Multigated Radionuclide Angiography (MUGA) scan of all consecutive lung cancer patients, treated with Doxorubicin based regimens. Thirteen of 82 patients showed a significant (more than 15%) decline of left ventricular EF. The dose of doxorubicin producing this decline ranged between 91-180 mg/m2. Actual decline in EF ranged between 16-45%. Only 5 of 13 patients developed symptoms attributable to the cardiac disease. Doxorubicin can alter EF significantly in lung cancer patients at levels well below which are considered 'safe'. The reason for massive decline in ejection fraction in these patients has been hypothesized.     

Retinoic acid syndrome in acute promyelocytic leukemia

This article, the first of two, reports the evaluation of a minor injuries clinic. The authors describe the background to the service and the methodology and results of the study. Some 20,000 patients attended the clinic during its first two years, at an average cost of 33 pounds per patient. Waiting times were low and 67 per cent of patients were discharged. Independent clinical audit rated 98 per cent of cases as satisfactorily treated. The clinic has generally been accepted by the local medical community and was funded permanently in late 1996.     

Charles Bonnet syndrome: a case report

Gastrointestinal lipomas are benign but rare lesions, mainly located in the colon. Depending on their size they are responsible for obstructive bowel symptoms. Diagnostic tools are either the endoscopy or computer tomography. It is recommended to investigate the entire large bowel as other pathologies are often found. Any lipoma found should be removed. Two cases with symptomatic lipoma are presented. In both cases the lipoma was removed by open surgery.     

Hermansky-Pudlak syndrome: a case report and discussion

Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive disease. Diagnosis is based on a triad of signs: oculocutaneous albinism, a hemorrhagic tendency due to a platelet disorder, and an accumulation of lipopigments in different organs, particularly the medullary macrophages. We describe a child with the characteristic findings of this syndrome, which often goes unrecognized because of the discrete nature of the cutaneous and hemorrhagic manifestations. This diagnosis is important because of the risk not only of hemorrhage but also of granulomatous colitis and long-term pulmonary fibrosis.     

Olmsted syndrome: report of a new case

We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of the neck and axillae. At the same time the erythema of the genital area became hyperkeratotic. When he was 2 years old, he presented with a disabling palmoplantar keratoderma, initially focal, and later diffuse, also unresponsive to local or systemic treatments employed. The lesions have varied during the course of the disease without ever clearing completely. The axillary and inguinal plaques have shown spontaneous resolution on occasion. Six skin biopsies have been performed with no conclusive histological diagnosis of any of the typical disorders of keratinization. All treatments, topical and systemic, including etretinate and acitretin, have failed to improve the condition. We believe that this patient has Olmsted syndrome, a rare form of palmoplantar keratoderma with periorificial keratotic plaques.     

Munchausen's syndrome: case report

A case report of a 31-year old butcher with haemorrhagica histrionica is presented. The patient went to great lengths to induce haematemesis and fake its symptoms to gain admission to hospital. The alarming frequency of admissions and dramatic behaviour of the patient prompted this report.     

Asplenia syndrome in conjoined twins: a case report

Incomplete fission of the primordial cell mass is generally believed to be the cause of conjoined twinning. It may also explain the tendency towards increased symmetry in these twins. We report a case of the rostral duplication type of conjoined twins with an absence of symmetry; one twin had the asplenia syndrome, whereas the other twin was normal. Local environmental factors acting upon the organ anlage may explain the asymmetric development in these conjoined twins.     

The growing teratoma syndrome: report of a case

We report here the first case of a one-step endosonography(EUS)-guided pseudocyst drainage. A prototype large channel curved array echo endoscope (Pentax FG-38 UX) and a prototype delivery system for placement of an endoprosthesis was used for the procedure. The delivery system (GIP MedicinTechnik GmbH/Medi-Globe Corporation) consists of a handle part with a piston, a metal ring sheath, a plastic catheter with a diathermy needle and a double pigtail endoprosthesis (8.5 Fr). When mounted on the endoscope the endoprosthesis can be advanced out of the distal end of the endoscope. The introduction of the stent as well as the stent release can be monitored entirely by ultrasound. The procedure was tested in a 76-year-old woman with a pseudocyst measuring 60 mm in diameter located in the tail of the pancreas. The procedure was well tolerated by the patient, and there were no procedural complications. The advantage of a large channel echo endoscope and our new prototype delivery system is that the endoprosthesis can be inserted in to a pancreatic cyst guided exclusively by EUS without exchange of endoscopes, catheters or guide wires. Further studies are warranted.     

Alport syndrome with neurofibromatosis type-I: a case report

We report a 9-year-old boy with repeated fractures of the tibia from age 6 months and microscopic hematuria from age 2 years. His maternal family has a history of nephritis and his paternal family has neurofibromatosis type-I (NF-I). The boy's renal biopsy revealed an irregular attenuation and splitting of the glomerular basement membrane. The skin biopsy was stained with monoclonal antibody against the alpha 5 chain of type IV collagen; the epidermal basement membrane was negative in the boy and segmentally positive in the boy's mother. We conclude that the patient inherited Alport syndrome from his mother and NF-I from his father. We postulate this was a chance association and that this case does not suggest any relationship between the two diseases.     

Anesthetic management of Seckel syndrome: a case report

Seckel syndrome is a rare syndrome of chromosome aberration, in which bird-headed dwarfism, microcephalus and other minor deformities are recognized. A 24-year-old male patient with Seckel syndrome underwent both abdominal and orthopaedic surgeries in 1 year under general anesthesia. The first operation was an emergent operation under preshock state and enterostomy was performed. The second was arthrodesis of the hip joint. Before the second operation, laryngeal CT, tomography and fiberscopy revealed stenosis just below his vocal cord. During the second operation, the anesthesia was unsatisfactory with inhalation of nitrous oxide and sevoflurane and intravenous vecuronium, because of intraoperative abnormal hypertension. But the recovery from the anesthesia was prompt. Although we experienced no difficulty in intubation except for intraoperative abnormal hypertension, preoperative laryngeal and renal examinations are necessary in the anesthetic management of this syndrome.     

The Kocher-Debré-Semelaigne syndrome: a case report

High school sophomores residing in a community with elevated levels of sodium in the drinking water (107 mg/1) exhibited a marked upward shift in blood pressure distribution patterns for systolic and diastolic blood pressures in both males and females as compared with a similar group in the control community (8 mg/1). The students group from the high sodium community appears to exhibit a blood pressure distribution characteristic of persons several years older.     

Fatal hydrofluoric acid ingestion: a suicide case report

Numerous reports of poisonings due to various fluoride salts and also to hydrofluoric acid have appeared in the literature. Hydrofluoric acid, which is recognized as a strong acid, is expected to cause severe burns following acute exposure. This case is reported because the expected burns were not observed, but the laboratory analysis (a blood fluoride concentration of 13 mg/L) supported the ruling of death due to ingestion of hydrofluoric acid.     

Gluteal compartment syndrome: case report

A compartmental syndrome can occur in any space limited by fascia or skin. A case of a gluteal compartment syndrome is reported, apparently from prolonged pressure after a drug overdose. Clinical features were a painful expanding gluteal mass with sciatic nerve dysfunction. Fasciotomy of the tensor fascia lata and the overlying fascia of the gluteus maximus resulted in rapid relief of symptoms.     

Oral problems associated with CREST syndrome: a case report

A patient with CREST syndrome is described, with such severe limitation of mouth opening that extractions were required before upper gastrointestinal endoscopy could be performed. Features of CREST syndrome of importance to the dental and oral surgeon are described.     

Virus-associated hemophagocytic syndrome after hepatic resection: a case report

Virus-associated hemophagocytic syndrome (VAHS) is associated with a systemic viral infection and is mainly observed in immunosuppressed adult patients. This rare disease is characterized by symptoms which include a high fever, pancytopenia, and splenomegaly and sometimes results in a fatal outcome. However, thus far, little has been reported on VAHS in general surgical patients. We herein report this rare complication which occurred in a patient with hepatocellular carcinoma, as well as chronic hepatitis C, after a hepatic resection. A 66-year-old man with chronic hepatitis C and recurrent hepatocellular carcinoma underwent a repeat hepatic resection without any blood transfusions. In the early postoperative period, he recovered uneventfully. However, he suddenly began to suffer from a high fever (38.4 degrees C) and severe pancytopenia 8 days after surgery. Activated macrophages, which phagocytosed erythrocytes, were identified by a cytological study of the bone marrow. The patient was therefore treated with methylprednisolone pulse therapy 13 days after surgery. On the day following the initial administration of methylprednisolone, his clinical condition drastically improved. Fortunately, with methylprednisolone therapy, our patient recovered from acute, severe pancytopenia. In general surgery, it is often difficult for surgeons to use steroids due to their negative side effects. However, when symptoms such as fever, general fatigue and pancytopenia are observed, even in posthepatectomy patients with hepatocellular carcinoma and hepatitis, a bone marrow aspiration should be performed as soon as possible, and when VAHS is suspected, steroid pulse therapy should be the first treatment of choice. This rare but sometimes fatal complication should thus be taken into consideration in the postoperative management of hepatectomized patients with chronic hepatitis C.