Sinking skin flap syndrome with delayed dysautonomic syndrome—An atypical presentation

INTRODUCTIONSinking skin flap syndrome or “syndrome of the trephined” is a rare complication after a large craniectomy, with a sunken skin above the bone defect with neurological symptoms such as severe headache, mental changes, focal deficits, or seizures.PRESENTATION OF CASEWe report a case of 21 years old man with trefinated syndrome showing delayed dysautonomic changes.DISCUSSIONOur patient had a large bone flap defect and a VP shunt that constitute risk factors to develop this syndrome. Also, there is reabsorption of bone tissue while it is placed in subcutaneous tissue. The principal symptoms of sinking skin flap syndrome are severe headache, mental changes, focal deficits, or seizures. Our patient presented with a delayed dysautonomic syndrome, with signs and symptoms very characteristics. Only few cases of this syndrome were related in literature and none were presented with dysautonomic syndrome.CONCLUSIONWe reported here a very uncommon case of sinking skill flap syndrome that causes a severe dysautonomic syndrome and worsening the patient condition.     

Dysgénésies gonadiques et métabolisme osseux

Gonadal dysgenesis is defined as congenital hypogonadism related to abnormalities of the sex chromosomes. Because sex steroids play a central role in the acquisition and maintenance of bone mass, studies have been done to investigate bone status in patients with gonadal dysgenesis, particularly Turner's syndrome and Klinefelter's syndrome, which are the two most common types. The severe estrogen deficiency characteristic of Turner's syndrome (44, X0) is associated with a significant bone mass decrease ascribable to increased bone turnover, as shown by histological studies and assays of bone turnover markers. Estrogen therapy is followed by a significant bone mass gain and a return to normal of bone turnover markers, suggesting that it is the estrogen deficiency rather than the chromosomal abnormality that causes the bone mass deficiency, although abnormalities in the renal metabolism of vitamin D have been reported. Combined therapy with estrogens and growth hormone seems beneficial during the prepubertal period. In Klinefelter's syndrome (47XXY),  serum testosterone levels are at the lower end of the normal range and dihydrotestosterone levels are low. Histological studies show depressed osteoblast function and a decrease in 5-alpha-reductase activity responsible for partial tissue resistance to androgens. Assays of bone turnover markers show evidence of increased bone turnover. The bone deficiency is most marked at the femoral neck and seems correlated with serum testosterone and estradiol levels. Androgen therapy has favorable effects on the bone only if it is started before puberty. Recent data suggest that estrogens may contribute to the development of demineralization in KS and that bisphosphonate therapy may be beneficial.     

Gonadal dysgenesis and bone metabolism

Gonadal dysgenesis is defined as congenital hypogonadism related to abnormalities of the sex chromosomes. Because sex steroids play a central role in the acquisition and maintenance of bone mass, studies have been done to investigate bone status in patients with gonadal dysgenesis, particularly Turner's syndrome and Klinefelter's syndrome, which are the two most common types. The severe estrogen deficiency characteristic of Turner's syndrome (44, X0) is associated with a significant bone mass decrease ascribable to increased bone turnover, as shown by histological studies and assays of bone turnover markers. Estrogen therapy is followed by a significant bone mass gain and a return to normal of bone turnover markers, suggesting that it is the estrogen deficiency rather than the chromosomal abnormality that causes the bone mass deficiency, although abnormalities in the renal metabolism of vitamin D have been reported. Combined therapy with estrogens and growth hormone seems beneficial during the prepubertal period. In Klinefelter's syndrome (47XXY), serum testosterone levels are at the lower end of the normal range and dihydrotestosterone levels are low. Histological studies show depressed osteoblast function and a decrease in 5-alpha-reductase activity responsible for partial tissue resistance to androgens. Assays of bone turnover markers show evidence of increased bone turnover. The bone deficiency is most marked at the femoral neck and seems correlated with serum testosterone and estradiol levels. Androgen therapy has favorable effects on the bone only if it is started before puberty. Recent data suggest that estrogens may contribute to the development of demineralization in KS and that bisphosphonate therapy may be beneficial.     

Migrating bone marrow edema syndrome: a cause of recurring knee pain

Bone marrow edema syndrome is a condition of unknown etiology, presenting with painful limping. It is characterized by normal radiographs, but magnetic resonance imaging findings change with bone marrow edema. When there is osteopenia in the radiographs, the condition is called transient osteoporosis. The term migratory bone marrow edema syndrome is used when there is involvement of another joint, or another compartment in the same joint, which typically occurs within 6 months of onset of primary symptoms. Here, a case of migratory bone marrow edema syndrome in a 47-year-old male patient, which was conservatively managed, is reported.     

Fatal fat embolism syndrome: a case report

Fat embolism syndrome is a dire complication of long bone trauma. It is usually associated with neurological, hematological and respiratory involvement, the latter being the major cause of death. We present a case of severe fat embolism syndrome occurring 3 hours after a long bone injury, leading to permanent vegetative state and death without any respiratory signs. The diagnosis was confirmed by cytology of the bronchoalveolar lavage fluid. Clinical presentation of the puzzling fat embolism syndrome and diagnostic tests in suspected fat embolism syndrome are reviewed.     

骨扫描在跟痛症诊疗中的临床意义

目的：探讨同位素骨扫描对跟痛症诊断及治疗的临床意义。方法：对４８例跟痛症患者进行了双足骨扫描及Ｘ线摄片检查，并用２５例无症状者作为对照，对治愈的８例患者跟踪观察。结果：发现骨扫描诊断阳性率高达９８％，而放射学发现有骨刺者仅为５４％，治疗后症状消失的患者骨扫描复查也转阴性，而骨刺仍然存在。结论：跟痛症不是由于骨刺所致，故Ｘ线检查帮助不大，而同位素骨扫描在跟痛症的诊断及疗效的评估中有较大的临床意义     

Treacher-Collin综合征颧眶骨再造术

目的　探讨以颧眶骨整复再造治疗Treacher Collin综合征 ,并对各种充填材料进行临床比较研究。方法　 1994～ 2 0 0 2年 ,采用冠状切口或下睑缘和上睑带蒂皮瓣局部进路 ,眼眶外下部、颧骨体及颧弓部骨膜下剥离 ,应用不同材料进行眶、颧弓再造治疗Treacher Collin综合征 5 5例。结果　所有病例颧骨再造均获成功 ,眶外下部分得到修复 ,外形满意率达 90 % ,无感染 ,再造材料局部外露 2例 ,外形二期修整 1例。结论　颧眶部再造是Treacher Collin综合征治疗的基础和最重要部分 ,自体骨为最常用的颧眶骨再造材料 ,Medpor是理想的人工材料 ,组织相容性好 ,无排异 ,无吸收复发 ,可以避免采骨供区损伤。     

Fat emboli syndrome in a nondisplaced tibia fracture

Fat emboli syndrome is a well-recognized complication of displaced long bone fractures, often times requiring internal fixation. Treatment is generally supportive and is most successful with early diagnosis. This article describes a case of fat emboli syndrome resulting from a nondisplaced tibia fracture treated with long leg casting. This case demonstrates that fat emboli should be considered as a potential complication of any long bone fracture and should be part of the differential diagnosis for any patient unconscious or in respiratory distress that has sustained a recent long bone fracture.     

The transitory bone marrow edema syndrome of the hip

AIM OF THE STUDY: Since MRI-studies had begun to establish the diagnosis of transitory bone marrow edema syndrome of the hip orthopedic surgeons have tried to integrate this new syndrome into the internationally accepted system of musculoskeletal diseases. Particularly, the relation to non-traumatic osteonecrosis of the femoral head and the possibilities in therapy were investigated in our clinical trial. METHODS: Our clinical trial encompassed 106 patients suffering from the transitory bone marrow edema syndrome diagnosed in our department between the years 1985 and 2000. In order to confirm this diagnosis we used the patients' histories, their clinical courses, MRI studies, scintigraphic bone scans, intraosseal pressure measurements, phlebographies, laboratory data, and histologic specimens. One half of our collective positive for transient bone marrow edema of the hip underwent core-decompression surgery (50 patients), the other half (56 patients) was treated conservatively by analgesic medication combined with restriction of weight-bearing in the affected extremity. RESULTS: Patients positive for transitory bone marrow edema syndrome of the hip are middle-aged individuals with a male to female predominance of 60 : 40. This group has no or only few risk factors usually associated with osteonecrosis of the femoral head. Thus, the missing alcoholic abuse is striking. All patients suffering from transitory bone marrow edema syndrome of the hip recovered completely independent of the therapy we initiated and none of them showed any signs of osteonecrosis. The one half undergoing surgical decompression of the edema by using a 4.5 mm drill experienced an markedly accelerated relief of their clinical symptoms as well as their signal changes on MRI studies. Conventional X-ray pictures and scintigraphic bone scans are not useful for early differentiation between early stages of osteonecrosis and bone marrow edemas. This also accounts for the historical measurements of intraosseal pressure determinations and phlebographies. In contrast to that, MRI studies are effective in early differentiation between osteonecrosis and bone marrow edema syndrome of the hip, especially when contrast medium (gadolinium) is administrated intravenously and fat-suppressed MRI-sequences find use. Beginning osteonecrosis of the femoral head shows a segmental loss of contrast medium, a "double line sign" interface to the intact bone marrow, and only in a few cases they are associated with a huge symptomatic edema. The histologic examination of specimens obtained from 43 patients with transitory bone marrow edema syndrome of the hip revealed no signs of osteonecrosis. CONCLUSION: MRI studies are useful in differentiation between bone marrow edema syndrome of the hip and non-traumatic osteonecrosis of the femoral head in each stage of these two diseases. The thorough differentiation between these two diseases is of extraordinary importance for the clinical work-up of the patients as well as for scientific reasons. The course of primary bone marrow edema is benign as it results in entire recovery. The core decompression surgery offers the chance to shorten the course of the disease.     

Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu–Cheney syndrome

Hajdu–Cheney syndrome (MIM 102500) is a rare skeletal dysplasia marked by severe generalized osteoporosis and focal bone loss (acro-osteolysis). Osteoporosis treatment outcome has been reported only once previously. Reported herein is the biochemical and densitometric response to integrated anti-remodeling and anabolic therapy in a woman with Hajdu–Cheney syndrome. Results suggest dissociation of bone formation from bone resorption resulting in dramatic increases in bone mineral density without clinical evidence of activated osteoporosis. An erratum to this article can be found at     

The hyoid bone syndrome

Various causes of head and neck pain have been described in the literature. In 1954 Brown described a so-called hyoid bone syndrome, ie, tenderness at the site of the greater cornu of the hyoid bone. His paper, however, did not offer any definitive treatment. In 1968 Steinmann reported the hyoid bone syndrome as a form of "insertion tendinois," for which he recommended the use of procaine hydrochloride injection with corticosteroid at the tip of the greater hyoid cornu for relief of pain. The relief, however, was temporary. The purpose of this paper is to present the symptom complex of the hyoid bone syndrome, its diagnosis by exclusion, and excision of the greater cornu in 18 patients for permanent relief of head and neck pain.     

绝经后妇女骨量丢失过程中中医证候演变规律

目的 探讨绝经后妇女骨量丢失过程中中医证候演变规律,为临床治疗提供理论依据.方法 选取绝经后妇女,问卷调查、随访收集临床资料,分析其不同随访时间及骨量丢失加重者五脏亏虚证候特征及演变情况.结果 参与随访患者共175例,回收随访问卷194份,随访时间在1年至7年1个月,其中随访时间≤3年和>3年随访患者共有97例.单脏虚...     

Increased perfusion of the femoral head in transient bone marrow edema syndrome

The pathophysiology of transient bone marrow edema syndrome is not known. Ischemia has been suggested as the pathophysiologic factor, because the histologic findings are similar to those of early stage osteonecrosis. Angiographic studies of osteonecrotic femoral heads have shown arterial interruption and impaired perfusion. The current report describes the angiographic and scintigraphic findings of transient bone marrow edema syndrome of the hip in a 45-year-old man. The nutrient arteries were dilated, and the femoral head perfusion was increased compared with the unaffected contralateral side. These findings suggest that a vasomotor response plays a role in the pathogenesis of transient bone marrow edema syndrome. The disease might be a reversible process after temporary ischemia of the femoral head.     

Hemangioma of the radius associated with Kasabach-Merritt syndrome: case report and literature review

The Kasabach-Merritt syndrome of consumptive coagulopathy associated with massive hemangiomas is a potentially life-threatening problem in patients with a pathologic fracture of the osseous lesion. This can result in massive bleeding even after minor trauma. In such patients, operative management of long bone hemangiomatous lesions, including percutaneous needle aspirations, may be contraindicated, and nonoperative management may be preferable. Kasabach-Merritt syndrome must be suspected in patients with large hemangiomas with associated bone lesions, and appropriate coagulation studies should be obtained before any operative management. Review of the world English literature on Kasabach-Merritt syndrome has revealed that the most common pathologic fractures occur in the vertebral bodies. An additional case report of a child with a pathologic fracture and deformity of his radius has been documented. Decreased hematocrit and fibrinogen levels associated with thrombocytopenia and a prolonged prothrombin time and partial thromboplastin time in association with bone hemangioma should alert the orthopaedist to the possibility of Kasabach-Merritt syndrome.     

Notch信号通路在骨髓间充质干细胞及骨代谢疾病中的功能研究进展

骨髓间充质干细胞是存在于骨髓基质中的一种多能干细胞,具有多向分化的潜能,其天然再生能力对骨骼的生长代谢和骨转换起着至关重要的作用。Notch信号通路是一条在进化中高度保守的信号转导通路,与骨髓间充质干细胞的增殖、分化与凋亡密切相关,影响人体骨骼发育,也是多种骨代谢疾病的重要调节通路。以往对Notch信号通路的研究主要集中在神经干细胞,对骨髓间充质干细胞的研究较少。本文通过查阅文献,阐述不同的影响因素介导Notch信号通路对骨髓间充质干细胞分化的调节,并总结了Notch信号通路在骨代谢疾病如Alagille综合征、Adams Oliver综合征、脊椎肋骨发育不良、HajduCheney综合征、骨折愈合中的研究近况。     

Bone marrow edema syndrome associated with uterine myoma: a case report

A patient with bone marrow edema syndrome of the hip associated with a uterine myoma is presented. A 51-year-old woman could not walk because of severe pain in both hips and had been referred to the authors' institute. Magnetic resonance imaging scans showed abnormal intensity on T1- and T2-weighted images in both femoral heads and a large mass arising from the uterus which was diagnosed as a uterine myoma. A 99mTc-methylene diphosphonate scintigraph showed diffuse uptake in both femoral heads. The pain in both hips decreased shortly after a hysterectomy and the patient could walk without crutches within 2 weeks after the gynecologic surgery. Magnetic resonance imaging scans taken 8 months after surgery showed high signal intensity on T1- and T2-weighted images, indicating normal bone marrow in the femoral heads. To the authors' knowledge, this is the first case report showing a bone marrow edema syndrome of the hip associated with uterine myoma. The pathophysiologic mechanisms for bone marrow edema syndrome of the hip in the current patient and in pregnancy may be identical. More specifically, a large intrapelvic mass may cause an increase of intrapelvic pressure and subsequent blood stasis in both conditions. The current case suggests the possible factors of bone marrow edema syndrome of the hip which need to be investigated.     

Bisphosphonate pretreatment attenuates hungry bone syndrome postoperatively in subjects with primary hyperparathyroidism

Primary hyperparathyroidism is characterized by hypercalcemia with loss of bone mass. After parathyroidectomy, hypocalcemia may develop in some patients due to unregulated bone mineralization. Preoperative administration of bisphosphonates, potent inhibitors of osteoclast activity, may prevent postoperative hypocalcemia after parathyroidectomy. We retrospectively reviewed medical records to investigate the effect of bisphosphonate pretreatment on serum calcium level changes after parathyroidectomy. Twenty-three patients with a diagnosis of primary hyperparathyroidism underwent parathyroidectomy between April 1997 and August 2002. Clinical and laboratory data were collected before and after the operation. These patients were divided into two groups; those showing hungry bone syndrome (n = 9) and those not (n = 14). None of the 9 patients with hungry bone syndrome had received bisphosphonate pretreatment. Of the 14 patients without hungry bone syndrome, 6 had received bisphosphonate pretreatment (P < 0.05). Furthermore, preoperative calcium concentration was not related to the occurrence of hypo-calcemia in those without bisphosphonate pretreatment. In conclusion, administration of bisphosphonates in primary hyperparathyroidism can prevent the occurrence of hungry bone syndrome after parathyroidectomy.     

Estrogen Deficiency is a Potential Cause for Osteopenia in Adult Male Patients with Noonan's Syndrome

Osteopenia is frequently observed in patients with Turner's syndrome. By contrast, there is no report concerning bone metabolism in patients with Noonan's syndrome which comprises Turner's phenotypic characteristics without any sex chromosome abnormalities. In the present investigation, we determined bone mineral density (BMD) as well as serum and urine indices of bone turnover in two male patients with Noonan's syndrome. Both patients showed remarkably decreased BMD, measured at two sites on the lumbar spine (L2-L4) and the distal end of the radius using dual energy X-ray absorptiometry (DXA). Urinary pyridinoline (PYD) and deoxypyridinoline (DPD) concentrations were significantly elevated in both patients, and serum osteocalcin and carboxyterminal propeptide of type I procollagen (PICP) concentrations were elevated in one patient. Surprisingly, both patients had a low level of serum 17β-estradiol compared with control males, whereas they had normal levels of serum testosterone and dihydrotestosterone. Conjugated estrogens (Premarin 0.625 mg/day) were continued to be administered to these patients, followed up for 12 months. Urinary PYD and DPD concentrations gradually decreased, followed by an increase in their BMD. This is the first report that male patients with Noonan's syndrome showed osteopenia associated with increased bone resorption. Our data indicate that hypoestrogenism plays a potentially significant role in the abnormal bone metabolism in these patients. Received: 11 May 1999 / Accepted: 30 September 1999     

Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up.

Hajdu-Cheney syndrome is an autosomal dominant inherited osteodysplastic bone disease with the hallmarks of acro-osteolysis, skull deformations, and generalized osteoporosis. Very few patients have been followed long-term with respect to the prognosis of acro-osteolysis and osteoporosis. Here we describe a 39-year-old woman and her 19-year-old daughter who are both affected with the Hajdu-Cheney syndrome. Skeletal lesions were followed in the mother between the ages of 22 and 39 years. The acro-osteolytic lesions progressed markedly and caused shortening of several fingers; some end phalanges had completely disappeared. Severe spinal osteoporosis with serial vertebral fractures was found at the age of 22 years. New vertebral fractures developed until the age of 33 years, but did not progress afterward. High turnover osteoporosis was found in the bone histology of iliac crest biopsies performed at the ages of 22 and 34 years. Bone mineral content (BMC) was strikingly decreased at the age of 34 years (T score -5.1 SD) and did not significantly change during further follow-up. In the daughter, BMC failed to increase between the ages of 12 and 19 years and was also markedly decreased (T score -4.4 SD). This suggests that osteoporosis in Hajdu-Cheney syndrome is related to a low peak bone mass and a high bone turnover, leading to insufficient bone formation compared with the increased bone resorption.