Brodie's syndrome. A report of 2 atypical cases

The aim of the authors is to show the treatment of Brodie's syndrome even in atypical cases where this pathology can not offer typical signs but can be associated to other skeletal deformities of the face. There are two atypical cases of Brodie's syndrome both of them came to our out patient's department. They were grown-up (one 20 one 22 years old), one of them with an extreme vertical expansion of lower third of the face and with a big transverse expansion of the upper maxillary bone, all typical signs of Brodie's syndrome; the other patient was with an extreme transverse expansion of the upper maxilla associated to a II class and a defect of 11, 12, 21, 22. The first patient was treated with orthodontic Tweed technique continued with surgical operation setting out to the contraction of the transverse diameter of the upper maxilla, associated to a Le Fort I osteotomy and an Epker osteotomy of the jaw. This orthodontic-surgical correction, allowed us to achieve a good aesthetic and functional result. The second patient was treated with orthodontics followed by surgical correction of the excessive transverse expansion of the upper maxilla after a Le Fort I osteotomy; a sagittal split of the jaw on Gotte technique was performed to correct the III class. We gave the patient a good aesthetic result with the restoration of the lost teeth in the upper maxilla, reaching in this way a good aesthetic and a well functioning result. We think it's possible to treat patients with atypical Brodie's syndrome with orthodontics or surgery in the same way we treat Brodie's syndrome and other deformities of the face reaching good aesthetic-functional results.     

Shprintzen-Goldberg syndrome. A case report

Major hemorrhage after pulmonary resection is infrequent. It is usually due to an unsecured vessel, and immediate reoperation to control hemorrhage is indicated. Diffuse bleeding from raw chest wall surfaces can complicate pleurectomy. Control of bleeding from this cause is difficult, and standard techniques may fail. Thoracic packing is occasionally needed. The authors describe a technique for thoracic packing. This technique permits removal of thoracic packing at the bedside, and simplifies subsequent management of an empyema, should one develop.     

MR imaging of adult colo-rectal intussusception. A case report

MR imaging of an intussuscepted sigmoid cancer misinterpreted as a rectal carcinoma is described. High-resolution technique with pelvic-phased array coils and fast spin-echo was used. The diagnosis is discussed in relation to the MR findings.     

Bronchopulmonary sequestration with MR angiographic evaluation. A case report

To determine the influence of various oestrogenenic administrations on lipid response, 63 women with total abdominal hysterectomy and bilateral anexectomy were studied before and 6 and 12 months after receiving 17 beta-oestradiol by different means. The effect on the levels of lipids and lipoproteins of the 2 mg/24 h administration of oestradiol valerate was compared with 1.5 mg/day of percutaneous 17 beta-oestradiol and 0.05 mg/day of transdermic oestradiol. The treatments were given continuously over a year. The oestradiol valerate produced a statistically significant increase (P < 0.05) of the HDL-C levels both after 6 and 12 months (10.6% vs. 11.6%). A significant increase was also observed (P < 0.05) in the Apo AI levels during the treatment (18 and 25%). On the other hand, unfavorable side effects with oestradiol were not produced, either percutaneous or transdermic, on lipid plasmatic or lipoprotein levels. These data show the benefit of oral oestrogenic therapy and the maintenance of the lipid profile in percutaneous and transdermic therapies in oophorectomized women.     

Septo-optic dysplasia: report of 6 patients studied with MR and discussion on its pathogenesis

OBJECTIVE: Septo-optic dysplasia, which consists of the association of the hypoplasia of the optic nerves and the agenesis of the septum pellucidum, is frequently associated with deficiency of hypothalamic releasing factors. In Magnetic Resonance (MR) of these patients, anomalies in the form and size of the pituitary stalk, adenohypophysis and neurohypophysis are found. Some cases show schizencephaly and it has been proposed as an added component of the syndrome by some authors. This fact has been refuted by others. PATIENTS AND METHODS: We present the clinical and neuroanatomic revision of six children with septo-optic dysplasia studied by MR imaging over the last five years in our Department of Neuropediatrics. The aim was, that through the neuroembryological discussion of the morphopathological aspects of the patients, to determine the malformation and the time in which the injury, which was the underlying cause, occurred. RESULTS: From the six cases, in two only disruptive signs were evident with the optic nerves being affected asymmetrically, disruption of the corpus callosum, falx cerebri indemnity and effects in the cortex conformation. This was opposed to the dysgenic features in the other four cases which had no disruptive features. CONCLUSIONS: Our findings suggest that this entity could be the result of at least two different pathogenic processes, that is, a minor form of holoprosencephaly (dysgenesis) or a disruption which, therefore, occurs later in gestation.     

Selective feticide by embolization in twin-twin transfusion syndrome. A report of two cases

BACKGROUND: The early development of complications in twin-twin transfusion syndrome is a poor prognostic sign. For this reason, new techniques for intrauterine therapy are being developed: invasive options, such as selective feticide of one of the twins, have been reported. CASES: Two cases of twin-twin transfusion syndrome in the late second trimester were treated by selective feticide using vascular embolization to the more severely damaged fetus. In one case the embolized fetus was a hydropic recipient with a normal cotwin; in the other, the donor fetus was affected by bilateral hydrocephalus. These fetuses underwent ultrasound-guided embolization using a bolus of histoacryl injected into the umbilical vein and fetal heart. Both patients went on to deliver healthy singletons in the third trimester. CONCLUSION: In twin-twin transfusion syndrome of early onset, embolization may help one of the twins survive. This technique is neither time-consuming nor expensive and does not require a general anesthetic.     

MR appearance of anomalous insertion of the medial meniscus. A case report

We report on the MR imaging of an anomalous medial meniscus with a tear in a 41-year-old man. Anomaly of the medial meniscus is rare and difficult to diagnose clinically. The MR images contributed to the pre-arthroscopic diagnosis and arthroscopy confirmed the lesion. The anomalous meniscus was not related to the symptoms.     

Autoimmune polyglandular syndrome type I. A case report

Calcineurin is a Ca2+ calmodulin dependent protein phosphatase which has an important role in the control of intracellular Ca2+ signalling. The protein is a heterodimer of one catalytic (CnA) subunit and one regulatory (CnB) subunit. As suggested by the protein sequence and confirmed by the crystallographic structure, the catalytic subunit of calcineurin (CnA) has high homologies with other protein phosphatases. The regulatory subunit (CnB) belongs to the EF-hand Ca2+ binding protein family. Despite its similarity with calmodulin, it has a different tertiary structure. Calcineurin is the target of two important immunosuppressant drugs: cyclosporin A and FK506. Subsequently, a detailed clarification of the role of calcineurin in the cytokine mediated activation of the T-cells has been possible. The understanding of the role of calcineurin in other cells, in particular neurons, is also progressing rapidly.     

Hereditary spastic paraplegia: report of two siblings

A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to muscle immaturity since there were many undifferentiated type 2C fibers.     

HELLP syndrome. Case report

Genitourinary sarcomas are very rare entities. This paper contributes one case report of an undifferentiated pelvic fibrosarcoma in a 53-year old patient. It also includes some observations on the clinical development, complementary studies used, difficulties for the pathoanatomical diagnosis and treatment issues.     

Kenny-Caffey syndrome. Case report

We investigated whether survival was related to recent childbirth or parity in a cohort of 540 women diagnosed with breast cancer before the age of 45 years who were followed for up to 14 years. Women who had given birth within 2 years before their diagnosis of breast cancer were at increased risk of dying, compared with nulliparous women, with an adjusted relative risk of 3.1 (95% confidence interval = 1.8-5.4). There was a moderate association of parity with mortality, with an adjusted relative risk of 1.8 (95% confidence interval = 1.2-2.9) for women with three or more births, compared with nulliparous women.     

Morquio's syndrome. A case report and review of clinical findings

Morquio's syndrome is a genetic disorder caused by the lack of the enzyme responsible for the breakdown of the mucopolysaccharide keratin sulfate. The resulting buildup of keratin sulfate causes a specific pattern of abnormalities, including short stature, spinal deformity, cardiac abnormalities, corneal opacities, deafness and dental abnormalities. The specific dental findings in the patient described here are as follows: the posterior teeth were tapered and had pointed. cusps; the maxillary anterior teeth were spaced and flared, and on radiographs, the enamel was less than 25 percent of normal thickness but of normal radiodensity. Despite these findings, the patient exhibited a low rate of caries. This paper is a review of medical and dental findings in the Morquio's patient and how this may affect dental management.     

Associated pathology with Wallenberg's syndrome. A report of three cases

Three cases with Wallenberg's syndrome were reported, in which CT-scan revealed silent old right temporal infarction, right recent cerebellar haematoma and left calcified parietal subdural haematoma evidenced after 10 years since trauma due to a traffic accident. Although Wallenberg's syndrome constitutes a fully clinical diagnosis, CT-scan does not seem to be justified by the management logical deductions of the medical act; however, it is better to perform it in order to identify a possible associated pathology.     

MR findings of primary central nervous system lymphoma in a child. A case report

Huntington's disease is an autosomal dominant, inherited disorder that results in progressive degeneration of the basal ganglia (especially the neostriatal caudate nucleus and putamen) and other forebrain structures and is associated with a clinical profile of movement, cognitive and psychiatric impairments for which there is at present no effective therapy. Neuropathological, neurochemical and behavioral features of the disease can all be reproduced in experimental animals by local injection of excitotoxic or metabolic toxins into the neostriatum. All these features of the disease can be alleviated, at least in rats, by transplantation of embryonic striatal tissue into the degenerated striatum, which was the basis for commencing the first clinical trials of striatal transplantation in Huntington's patients. However, although rat striatal xenografts may temporarily reduce apomorphine-induced dyskinesias in monkeys, there has been no demonstration that allograft techniques that work well in rats translate effectively to the much larger differentiated striatum of primates. Here we demonstrate good survival, differentiation and integration of striatal allografts in the primate neostriatum, and recovery in a test of skilled motor performance. Long-term graft survival in primates indicates probable success for clinical transplants in Huntington's disease; in addition, our data suggest that graft placement has a direct influence on the pattern and extent of functional recovery.     

MR cholangiopancreatography of Mirizzi syndrome and Lemmel syndrome

The purpose of this study is to evaluate the usefulness of MR cholangiopancreatography (MRCP) in diagnosing Mirizzi syndrome and Lemmel syndrome. MRCP could show compressed common hepatic duct by enlarged gallbladder in Mirizzi syndrome. Periampulary duodenal diverticulum and compressed lower bile duct can be recognized clearly by MRCP after secretin stimulation. So MRCP should apply for diagnosing of Mirizzi syndrome or Lemmel syndrome.     

Sweet's syndrome associated with spinal surgical intervention. A case report

STUDY DESIGN: A patient with a medical history of Sweet's Syndrome, an acute neutrophilic dermatosis, was seen at the authors' institution for cervical pain. After undergoing a thorough history-taking and physical examination and after experiencing no relief with conservative therapy, the patient underwent cervical spine surgery. After the surgical procedure, the patient developed multiple cutaneous lesions that were consistent with the findings associated with an acute recurrence of Sweet's Syndrome. OBJECTIVES: To characterize the authors' experience with this unusual histologically documented dermatologic disorder. SUMMARY OF BACKGROUND DATA: Sweet's Syndrome is a rare form of neutrophilic dermatosis characterized by recurrent eruptions of painful, edematous, red, tender plaques that are found predominantly on the torso in middle-aged women. After an extensive literature search, it was noted that this rare and unusual disorder has not been reported previously in association with surgical intervention of any type, including spinal operations. METHODS: The patient's postoperative course was documented, and all medical records were reviewed retrospectively. RESULTS: The patient's rash resolved spontaneously. Solid fusion of C5-C6 occurred. The patient remained neurovascularly intact, and her axial cervical pain decreased significantly from its preoperative levels. CONCLUSIONS: Sweet's Syndrome remains a rare dermatologic disorder, which may complicate a routine postoperative course. Patients with Sweet's Syndrome have an exceedingly high rate of other serious medical illness. The effect of Sweet's Syndrome on physiologic bone healing is unknown. In this patient, there was nonunion of the cervical spine, with eventual solid bony union. Perioperatively, patients with this disorder are treated with oral prednisone and oral antibiotics to prevent secondary complications at the surgical wound.     

Neuropsychological performance in Hallervorden-Spatz syndrome: A report of two cases.

Hallervorden-Spatz disease (HSD) is a rare progressive disorder characterized by iron deposition in the globus pallidus and zona reticularis of the substantia nigra. The cases of 2 Black female patients (aged 20–38 yrs) with diagnoses of probable HSD are evaluated, based on typical clinical course in conjunction with magnetic resonance imaging abnormalities restricted to the region of the globus pallidus. Ss' deficits included slowed cognitive processing speed, motor sequencing difficulty, constructional dyspraxia, and impaired recent memory functions. The constellation of behavioral deficits can be attributed to dysfunction of the frontal lobe, basal ganglia, or disruption of their functional interconnections. Additional deficits in language and visuospatial processing were also observed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)