Hyperhomocysteinemia and Arterial Aneurysm

Hyperhomocysteinemia (HCY) is an independent risk factor for atherosclerosis. Arterial aneurysm has rarely been described in association with heterozygous HCY. Here we report two cases of this association. Case 1 was 32-Year-old man who presented with distal trophic manifestations of the lower extremities. Upon investigation, occlusive arterial disease with fusiform aneurysm of both popliteal arteries and occlusion of the left cubital artery were found. Laboratory findings indicated HCY due to homozygous methylene tetrahydrofolate reductase (MTHFR) deficiency. Case 2 was 38-year-old man with no history of trauma who presented with repeated ischemic events involving the right hand in association with isolated aneurysm of the right cubital artery. Histological study demonstrated extensive dystrophic changes in the aneurysmal vessel wall, including sclerohyalin deposits. The only abnormality was homozygous MTHFR deficiency. Pathologic changes induced by HCY in vessel walls may be implicated in early arterial aneurysm. The association of anatomic lesions, young age, and absence of other causes suggests that the relationship between HCY and arterial aneurysm observed in these two patients was not coincidental.     

Femoral head fracture without hip dislocation

Femoral head fractures without disloca- tion or subluxation are extremely rare injuries. We report a neglected case of isolated comminuted fracture of femoral head without hip dislocation or subluxation of one year duration in a 36-year-old patient who sustained a high en- ergy trauma due to road traffic accident. He presented with painful right hip and inability to bear full weight on right lower limb with Harris hip score of 39. He received cementless total hip replacement. At latest follow-up of 2.3 years, functional outcome was excellent with Harris hip score of 95. Such isolated injuries have been described only once in the literature and have not been classified till now. The purpose of this report is to highlight the extreme rarity, pos- sible mechanism involved and a novel classification system to classify such injuries.     

Description of a Revision Technique for Failed Polyvinyl Alcohol Hydrogel Implant in Patient with Freiberg's Disease

Polyvinyl alcohol hydrogel synthetic cartilage implants are increasingly used to treat advanced Freiberg disease. We report a case with recurrence of symptoms within 6 weeks and required revision for fracture of the implant. We describe a revision technique with modified osteochondral bone graft to deal with the variables of revision surgery namely: the bone loss, collateral ligament insufficiency, and changes to the proximal phalanx articular surface. We describe a postoperative plan, recovery and a good outcome achieved in 12 month follow-up.     

Acquired pincer nail deformity associated with renal failure

Pincer nail deformity represents a loss in the normal convex shape of the nail and has been reported in association with various diseases and medications. The authors report a man with end-stage renal disease due to bladder carcinoma who developed pincer nail deformity while on hemodialysis. Previous case reports cite diabetes as a suspected cause of pincer nail development in patients with renal failure. However, the patient described in this case was not diabetic and his nail dystrophy is likely related to arteriovenous fistula placement.     

Chronic salpingo-o?phoritis with hydrosalpinx formation and ureteric obstruction: A case report

An association between gynaecological lesions and dilatation of the upper urinary tract has frequently been described. Hydronephrosis as a result of pelvic inflammatory disease has, however, rarely been reported in the literature. The case presented here illustrates the importance of investigation by means of excretory urography in patients with pelvic inflammatory disease presenting with renal symptoms and signs.     

Paediatric Dupuytren's disease

Dupuytren''s disease of the hand has only been rarely reported in children and is rarer still in infants. Only a few histologically confirmed diagnoses are found in literature. We report a case in a 4-month-old infant with Dupuytren''s disease of palm and thumb who required surgery at 6 months of age. Histology confirmed the diagnosis of Dupuytren''s disease. The purpose of this report is to show the importance of differential diagnosis of nodules and fibrotic bands in children''s hands as paediatric patients may be seen by a variety of treating physicians, not only plastic surgeons or pathologists.KEY WORDS: Dupuytren''s disease, palm nodule, infant, thumb     

Spontaneous pyeloduodenal fistula: an unusual presentation in advanced renal transitional cell carcinoma

Spontaneous pyeloduodenal fistula is extremely rare. Most of the etiologies belong to chronic renal inflammatory disease, especially in patients with renal calculi. In published studies, only 2 cases have been reported in association with renal malignancy. We report a case of spontaneous pyeloduodenal fistula associated with transitional cell carcinoma, which has not been previously described in published reports.     

Low-grade Osteomyelitis of the Fifth Metatarsal with Possible Concomitant Freiberg’s Disease of the Metatarsal Head

Freiberg’s disease, metatarsal avascular necrosis, is most often seen in healthy athletic adolescent girls. Presenting symptoms include vague pain, swelling, and loss of motion in the involved metatarsophalangeal joints. Low-grade osteomyelitis often is difficult to identify. In this case report, we present a 14-year-old girl with low-grade osteomyelitis of the fifth metatarsal accompanied by possible Freiberg’s disease in the same metatarsal.     

Camptocormia and dropped head syndrome as a clinic picture of myotonic myopathy

Dropped head syndrome is primarily based on weakness localized at neck extensors. It may result from motor neuron disease, myasthenia gravis, and chronic inflammatory demyelinating polyneuropathy and also from various neuromuscular diseases including inflammatory, dystrophic and metabolic myopathies. Camptocormia (CC) on the other hand is an unusual condition characterized by progressive weakness of the extensor vertebral muscles and results in involuntary trunk flexion. CC may emerge as a clinical feature of many different conditions such as several myopathies and Parkinson's disease. The association of dropped head syndrome with CC has been rarely published in the literature. However, this is the only case presenting with concomitant dropped head syndrome and CC as a clinical picture of myotonic dystrophy (MD). In this report we aimed to represent a female patient, who was diagnosed as having myotonic dystrophy, with concurrent dropped head syndrome and CC.     

Case Report: Bilateral Lung Transplantation for Rapidly Progressive Undifferentiated Interstitial Lung Disease—A Cautionary Tale

Interstitial lung disease is fast becoming one of the most common indications for lung transplantation (LTx); however, LTx for Goodpasture's syndrome with pulmonary involvement has not been previously described in the literature. In this report, we outline the case of a young male with undifferentiated rapidly progressive interstitial lung disease who ultimately received a bilateral sequential LTx after deterioration requiring extracorporeal membrane oxygenation. The original disease soon recurred in the graft, and unfortunately, the patient did not survive. The diagnosis of Goodpasture's syndrome was made postmortem and was not clearly evident on examination of the native explanted tissue, nor was there an elevated titer of antiglomerular basement membrane antibodies during his initial work-up. We hypothesize that the donor and recipient's HLA profile made him more susceptible to aggressive disease. In hindsight, active Goodpasture's disease would have been a contraindication to proceed to transplantation. This case is a cautionary reminder of the high stakes of performing LTx without a certain diagnosis.     

Atypical Presentation of Acute Freiberg Disease

Freiberg disease is a chronic progressive condition that results in pain and loss of normal function of the metatarsophalangeal joint (MTPJ). We describe a case of acute Freiberg disease secondary to a short course of oral steroids. The patient presented with an acute metatarsal head fracture that was managed successfully with open reduction and internal fixation. Although a rare complication of corticosteroid use, physicians having patients start taking steroids must remember the risk of osteonecrosis.     

A Hybrid Therapy for Buerger's Disease Using Distal Bypass and a Free Temporoparietal Fascial Flap: A Case Report

Buerger's disease presents a difficult challenge, with its uncertain etiology and lack of a standardized therapy, and is often refractory to treatment. In the present report, we have described the case of a 43-year-old male with Buerger's disease, a refractory ulcer on his right great toe, and severe pain at rest. We obtained favorable results using a hybrid therapy that combined distal bypass with a free temporoparietal fascial flap. Postoperatively, the flap healed, and the patient's pain resolved. After more than 3 years of follow-up, he had had no recurrence of the foot ulceration, and the patency of the bypass graft had been confirmed using Doppler flowmetry. We believe that the hybrid therapy we devised for the present patient (ie, combined distal bypass with a free temporoparietal fascial flap) is an effective treatment of Buerger's disease with pedal ulceration. The therapeutic strategies for this condition should not adhere to a single treatment modality; rather, they should combine available treatment modalities according to each individual patient's condition.     

Conservative management of Dieterich disease: case report

Dieterich disease is characterized by avascular necrosis of the metacarpal head. The recent literature has described surgical management of this condition relatively soon after its presentation. We present a case treated conservatively with a satisfactory outcome at 28 months.     

Mucoid degeneration of the brachial artery: case report and a review of literature

Cystic adventitial disease (CAD) is a rare cause of intermittent claudication, occurring in approximately 1:1200 claudicants or 1:1000 of those undergoing arteriography. It is most often described in the popliteal artery and is characterised by a mucinous cyst located in the adventitia of the artery, the contents of which resemble those of a ganglion. The origins of adventitial cysts are unknown, but connections to adjacent synovial spaces have been identified, suggesting that the cyst is a variant of a ganglion. In this report, we discuss a rare case of severe mucoid degeneration of the intima and media in a 67-year-old Saudi male patient. The patient presented with a saccular aneurysm of his right "mid-arm" brachial artery and critical ischemia of his right hand from distal embolisation.     

Isolated Congenital Pulmonary Regurgitation with Right Ventricular Outflow Tract Aneurysm—A Rare Variant of Uhl's Anomaly

Abstract : Isolated absent pulmonary valve syndrome is a very rare entity. We report the case of a four‐year‐old boy who had congenital absent pulmonary valve with a thin and aneurysmal right ventricular infundibulum. The histological picture was suggestive of Uhl's anomaly. This association of partial right ventricular Uhl's anomaly with absent pulmonary valve syndrome has not been described before. We discuss the embryological and clinical significance of this association . (J Card Surg 2010;25:415‐417)     

Chronic recurrent multifocal osteomyelitis associated with ulcerative colitis: a case report

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease of bone first described by Giedion et al in 1972. It is associated with several pathologic processes including psoriasis, palmoplantar pustulosis, and SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis). The only published association of CRMO and Crohn's disease was reported by Bognar et al in 1998. The authors describe the association of CRMO and ulcerative colitis (UC) in a 12-year-old girl. As far as the authors know, this is the first published report of CRMO associated with UC and the second of CRMO associated with inflammatory bowel diseases.     

Torsion of the hernia sac within a hydrocele of the scrotum in a child

Torsion of the hernia sac is a rare disease that presents as acute scrotum in children. Including the present case, only six cases have been reported in the English literature. We report a 10-year-old boy who presented with pain and swelling of his right scrotum. Ultrasonography revealed a hypoechoic region adjacent to the normal right testis. The inflammatory changes of the right scrotum deteriorated. The patient underwent surgery and a necrotic cyst was recognized within a hydrocele of the scrotum. The cyst was not connected with the testis or epididymis and was twisted at an angle of 270 degrees. The cause of the necrotic cyst observed was anatomical and pathological torsion of the hernia sac.     

Merkel cell carcinoma of the hand: Case report and literature review

We are reporting on a 72-year-old male who was diagnosed with Merkel cell carcinoma on the dorsal aspect of his left index finger. This rare highly aggressive malignancy of the skin has only exceptionally been described on the finger or hand. This case report helps review important findings associated with this rare malignancy and reviews the pertinent literature.     

Laparoscopic appendectomy for Crohn's disease of the appendix presenting as acute appendicitis

BACKGROUND: Crohn's disease confined to the appendix is rare but has been well described in the literature. It can mimic acute appendicitis clinically. After surgical treatment, recurrences of Crohn's disease are rare. We report the first case of treatment by laparoscopic appendectomy of Crohn's disease confined to the appendix. METHODS: A healthy 32-year old man presented with a week-long history of vague lower abdominal pain. Diagnostic work-up, which included CT, enteroclysis, and routine blood work, revealed a patent appendiceal lumen with an inflammatory mass in the right lower quadrant. RESULTS: Diagnostic laparoscopy revealed an inflamed appendix, and a laparoscopic appendectomy was performed, with frozen-section examination revealing Crohn's disease of the appendix. Two years after surgery, the patient has not had a recurrence of symptoms. CONCLUSIONS: Crohn's disease of the appendix can mimic acute appendicitis, although often with a more indolent course. The disease may be treated successfully by laparoscopic appendectomy, with good long-term results.