Hand Involvement in Ollier Disease and Maffucci Syndrome: a Case Series

Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.

Reconstruction of Large Defect of Foot with Extensive Bone Loss Exclusively Using a Latissimus Dorsi Muscle Free Flap: a Potential New Indication for this Flap

In cases of extensive damage to the foot, with significant bone loss, it is generally accepted that reconstruction must include bone flaps or grafts either in the emergency setting or subsequently. In this report, we describe the case of an 18-year-old student with an avulsion injury of the dorsum of his right foot. Consequently, he lost most of the soft tissue over the dorsum of the foot and the cuboid, navicular, and cuneiform bones. A latissimus dorsi free flap was used to reconstruct the defect. A functional pseudoarthrosis developed between the remaining bones of the foot, and the patient experienced satisfactory foot function after rehabilitation. For this reason, no additional reconstructive procedure was undertaken. This case suggests that it might be adequate to use the latissimus dorsi muscle flap more liberally than previously reported in the reconstruction of extensive defects of the dorsum of the foot, including cases with significant bone loss. This option could avoid the morbidity and inconvenience of a second surgery and the need to harvest a bone flap or graft.

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.

Thoracic Manifestations of Connective Tissue Diseases

Connective tissue diseases (CTDs) comprise several immunologic systemic disorders, each of which associated with a particular set of clinical manifestations and autoimmune profile. CTDs may cause numerous thoracic abnormalities, which vary in frequency and pattern according to the underlying disorder. The CTDs that most commonly involve the respiratory system are progressive systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis, Sjögren syndrome, polymyositis, dermatomyositis, and mixed connective tissue disease. Pulmonary abnormalities in this group of patients may result from CTD-related lung disease or treatment complications, namely drug toxicity and opportunistic infections. The most important thoracic manifestations of CTDs are interstitial lung disease and pulmonary arterial hypertension, with nonspecific interstitial pneumonia being the most common pattern of interstitial lung disease. High-resolution computed tomography is a valuable tool in the initial evaluation and follow-up of patients with CTDs. As such, general knowledge of the most common high-resolution computed tomographic features of CTD-related lung disease allows the radiologist to contribute to better patient management.

Bone Histomorphometry Revisited

Bone histomorphometry is defined as a quantitative evaluation of bone micro architecture, remodelling and metabolism. Bone metabolic assessment is based on a dynamic process, which provides data on bone matrix formation rate by incorporating a tetracycline compound. In the static evaluation, samples are stained and a semi-automatic technique is applied in order to obtain bone microarchitectural parameters such as trabecular area, perimeter and width. These parameters are in 2D, but they can be extrapolated into 3D, applying a stereological formula. Histomorphometry can be applied to different areas; however, in recent decades it has been a relevant tool in monitoring the effect of drug administration in bone. The main challenge for the future will be the development of noninvasive methods that can give similar information. In the herein review paper we will discuss the general principles and main applications of bone histomorphometry.

Valor da Radiografia Simples do Tórax no Diagnóstico das Cardiopatias

Apresenta-se uma metodologia de observação e de interpretação fisiopatológica do radiograma simples do tórax nas cardiopatias. Começa-se por examinar a vascularização pulmonar, dividindo as cardiopatias em quatro grupos, consoante a mesma está normal, diminuida, aumentada ou desigual. Atenta-se de seguida no aspecto da silhueta cardíaca, procurando diagnosticar quais as câmaras cardíacas predominantemente afectadas. Por fim analisam-se os chamados pontos chave do diagnóstico observando-se o tamanho e posição da aorta ascendente e do arco aórtico; o tronco pulmonar e seus ramos; a aurícula esquerda; a presença ou ausência de calcificações e a presença ou ausência de infundibulo (pequeno arco suplementar situado abaixo do arco aórtico e acima do arco pulmonar).

Pulmonar Vascular Changes in the Plain Chest Film of Cardiac Patients

The correct interpretation of chest film on cardiac patients is very important. The most important feature is the radiographic appearance of the pulmonary vascularity. Four different patterns of pulmonary vascularity are considered: normal, decreased, increased and uneven. The different diseases associated with each type are mentioned. From the pulmonary vascular pattern one can deduct hemodynamic data which are important for the diagnosis, grade of severity and follow-up.

Early Sac Shrinkage Predicts a Low Risk of Late Complications After Endovascular Aortic Aneurysm Repair

BACKGROUND: Aneurysm shrinkage has been proposed as a marker of successful endovascular aneurysm repair (EVAR). Patients with early postoperative shrinkage may experience fewer subsequent complications, and consequently require less intensive surveillance. METHODS: Patients undergoing EVAR from 2000 to 2011 at three vascular centres (in 2 countries), who had two imaging examinations (postoperative and after 6-18 months), were included. Maximum diameter, complications and secondary interventions during follow-up were registered. Patients were categorized according to early sac dynamics. The primary endpoint was freedom from late complications. Secondary endpoints were freedom from secondary intervention, postimplant rupture and direct (type I/III) endoleaks. RESULTS: Some 597 EVARs (71.1 per cent of all EVARs) were included. No shrinkage was observed in 284 patients (47.6 per cent), moderate shrinkage (5-9 mm) in 142 (23.8 per cent) and major shrinkage (at least 10 mm) in 171 patients (28.6 per cent). Four years after the index imaging, the rate of freedom from complications was 84.3 (95 per cent confidence interval 78.7 to 89.8), 88.1 (80.6 to 95.5) and 94.4 (90.1 to 98.7) per cent respectively. No shrinkage was an independent risk factor for late complications compared with major shrinkage (hazard ratio (HR) 3.11; P < 0.001). Moderate compared with major shrinkage (HR 2.10; P = 0.022), early postoperative complications (HR 3.34; P < 0.001) and increasing abdominal aortic aneurysm baseline diameter (HR 1.02; P = 0.001) were also risk factors for late complications. Freedom from secondary interventions and direct endoleaks was greater for patients with major sac shrinkage. CONCLUSION: Early change in aneurysm sac diameter is a strong predictor of late complications after EVAR. Patients with major sac shrinkage have a very low risk of complications for up to 5 years. This parameter may be used to tailor postoperative surveillance.

Imaging the Hypoglossal Nerve

The hypoglossal nerve is a pure motor nerve. It provides motor control to the intrinsic and extrinsic tongue muscles thus being essential for normal tongue movement and coordination. In order to design a useful imaging approach and a working differential diagnosis in cases of hypoglossal nerve damage one has to have a good knowledge of the normal anatomy of the nerve trunk and its main branches. A successful imaging evaluation to hypoglossal diseases always requires high resolution studies due to the small size of the structures being studied. MRI is the preferred modality to directly visualize the nerve, while CT is superior in displaying the bony anatomy of the neurovascular foramina of the skull base. Also, while CT is only able to detect nerve pathology by indirect signs, such as bony expansion of the hypoglossal canal, MRI is able to visualize directly the causative pathological process as in the case of small tumors, or infectious/inflammatory processes affecting the nerve. The easiest way to approach the study of the hypoglossal nerve is to divide it in its main segments: intra-axial, cisternal, skull base and extracranial segment, tailoring the imaging technique to each anatomical area while bearing in mind the main disease entities affecting each segment.

Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral Artery

Ophthalmoplegic migraine (OM) is a childhood disorder of uncertain etiology manifesting recurrent unilateral headache associated with a transitory oculomotor (usually IIIrd nerve) palsy. Recent publications emphasize the finding on MRI of contrast enhancement in the IIIrd nerve suggesting that OM may be a recurrent inflammatory neuropathy. We report the case of a 7-year-old boy with typical symptoms of this disorder. Angio MR and Angio CT revealed the presence of an infundibular dilatation of a perforating branch of the posterior cerebral artery adjacent to the symptomatic IIIrd nerve. We speculate that this and perhaps other cases of OM may have a different pathophysiology related to compression of the IIIrd nerve by an adjacent vascular structure that could activate the trigeminovascular system and produce migrainous pain.