Deletion 3q27→3qter in an infant with mild dysmorphism,parietal meningocele,and neonatal miliaria rubra-like lesions

Summary Deletion 3q273qter in an infant is described. A chromosomal abnormality was suspected because of minor facial dysmorphism and closed parietal meningocele. On the first day of life, a large exudative inflammation appeared on the skin of her back, which completely resolved after 1 week. Biopsy showed dilated sweat gland openings resembling miliaria rubra, which has not been previously reported in this age group. It is unclear if the skin change was due to the chromosomal abnormality. The meningocele was repaired at age 8 months. At age 20 months, slight neurodevelopmental delay was evident, the main features being hypertonicity and inability to walk without support. The patient has two healthy sisters, and prometaphase chromosome studies in both parents were normal. This infant represents the first example of del3q273qter and the first reported association of meningocele with an abnormality of chromosome 3.     

A case of dextrocardia with normal situs.

We report here a case of dextrocardia with normal situs in an 81-year-old man who died from non-pulmonary causes. Removal of the chest wall revealed a large, but otherwise anatomically normal, left lung occupying the entire left hemithorax and extending across the midline to overlap the left border of the heart which was positioned in the right hemithorax. The gross anatomy of the heart was normal save its position and the presence of only 2 pulmonary veins. Dissection of the heart showed all chambers in their classically described position, and there were no valvular defects. The anatomy of the great vessels was also normal. The right lung was hypoplastic and lay posterior to the heart. This lung lacked any lobular structure, but the presence of carbon particles throughout it suggested that it was capable of normal inflation.     

Anterior sacral meningocele infected with Fusobacterium in a patient with recently diagnosed colorectal carcinoma – a case report

Background

Anterior sacral meningoceles are rare, and usually occur with other malformations of the posterior lower spine. While these are more frequently reported in pediatric cohorts, we report a case in an elderly woman.

Case presentation

We report on a 71 year-old woman with a recently diagnosed colorectal adenocarcinoma who presented with a severe bacterial meningitis. The cerebrospinal fluid cell count revealed a pleocytosis of 80,000 cells/μl and a severe disturbance of the blood-brain-barrier. Fusobacterium nucleatum was cultured as the causing pathogen. A lumbar MRI showed, in addition to contrast-enhancing meninges as sign of inflammation, a presacral mass. In the next step, the mass was diagnosed as an anterior sacral meningocele connected to the gut. An adequate antibiotic was used to treat the leptomeningitis. The connection between gut and meningocele was closed surgically and the patient recovered well and underwent further treatment of her colorectal adenocarcinoma.

Conclusion

We report on a case of meningitis with an anterior sacral meningocele that was connected to the gut in a patient with a infiltrative colorectal adenocarcinoma. Anatomic variants have to be considered as rare causes of meningitis with typical intestinal germs.

     

Brain copper, iron, magnesium, zinc, calcium, sulfur and phosphorus storage in Wilson's disease.

PROJECT: Wilson's disease (WD) is an inherited disorder of copper metabolism characterised by juvenile liver cirrhosis and by neurological symptoms. Copper levels in brain in WD have been reported to be 10 to 15 fold normal values, depending on the different brain regions. Being very few data on copper distribution in central nervous system in WD available, it seemed of interest to study the concentration of copper and of other trace elements (Zn, P, Mg, Ca, Fe and S) in the brain of a patient died for WD. PROCEDURE: a 56 year old woman affected by WD was admitted to our hospital with signs of hepatic failure and died few days later. At autopsy, a brain slice extending from the left to the right hemisphere was divided in 28 samples. On each sample Copper, Iron, Magnesium, Phosphorus, Sulphur, Zinc and Calcium were determined by Induced Coupled Plasma Atomic Emission Spectroscopy. RESULTS: the mean concentration of copper, ranging from 88 to 158 microg/g of dry tissue in all the brain specimens was higher than literature reference values, while that of the other tested elements was considerably lower. CONCLUSIONS: 1) In the brain of WD patient examined the status of trace elements was extensively altered. Further studies are necessary to correlate the concentration of trace elements with pathological lesions and with clinical pictures. 2) The elements considered in our study showed an uneven distribution in different brain areas.     

A New Entodiniomorphid Ciliate,Troglocorys cava n. g., n. sp., from the Wild Eastern Chimpanzee (Pan troglodytes schweinfurthii) from Uganda

ABSTRACT. Troglocorys cava n. g., n. sp. is described from the feces of wild eastern chimpanzee, Pan troglodytes schweinfurthii, in Uganda. This new species has a spherical body with a frontal lobe, a long vestibulum, a cytoproct located at the posterior dorsal side of the body, an ovoid macronucleus, a contractile vacuole near the cytoproct, and a large concavity on the left surface of the body. Buccal ciliature is non‐retractable and consists of three ciliary zones: an adoral zone surrounding the vestibular opening, a dorso‐adoral zone extending transversely at the basis of the frontal lobe, and a vestibular zone longitudinally extending in a gently spiral curve to line the surface of the vestibulum. Two non‐retractable somatic ciliary zones comprise arches over the body surface: a short dorsal ciliary arch extending transversely at the basis of the frontal lobe and a wide C‐shaped left ciliary arch in the left concavity. Because of the presence of three ciliary zones in the non‐retractable buccal ciliature, the present genus might be a member of the family Blepharocorythidae, but the large left concavity and the C‐shaped left ciliary arch are unique, such structures have never been described from other blepharocorythids.     

Shoulder Joint Dislocation as an Unusual Complication of Defibrillation Threshold Testing Following Subcutaneous Implantable Cardioverter-Defibrillator Implantation

A 53-year-old man underwent implantation of a totally subcutaneous ICD (S-ICD; Boston Scientific). He was positioned supine, with the left arm abducted, externally rotated (i.e. palm up) and strapped to the arm extender. The generator was placed in the left mid-axillary line along the 5th-6th intercostal spaces and the defibrillation coil was tunneled anterior to the sternum. Defibrillation threshold (DFT) testing with 65 Jcaused a forceful pectoralis twitch. The patient woke up with a painful anteriorly dislocated left shoulder. Glenohumeral dislocation due to DFT testing has not been previously reported. It is likely that this complication is specific to the S-ICD implantation, and is related to positioning with the arm abducted, externally rotated, and immobilized, and use of greater defibrillation energy with current pathway through the bulk of the pectoralis muscle.Precautions may include extending the arm palm down, strapping the arm loosely, and adduction of the arm for DFT testing.     

Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)

In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.     

Long spacing collagen in dermal disorders

Electron microscopic studies of biopsy material from the vulva of six patients with lichen sclerosus et atrophicus and two patients with condyloma latum, and from the skin of the back and shoulder of one patient with scleromyxoedema and the forearm of one patient with macular amyloidosis revealed the presence of long spacing collagen (LSC) of one patient with macular amyloidosis revealed the presence of long spacing collagen (LSC) intermingled with an increased amount of ground substance and extracellular microfibrils. The presence of LSC in condyloma latum is believed not to have been reported previously. The LSC displayed an axial periodicity varying from 1000 to 2000 A. Our studies support the contention that the appearance of LSC is not specific of any disorder, and the formation of LSC is associated with the presence of increased amounts of glycosaminoglycan-rich ground substance and the abundance of microfilaments in the extracellular space.     

Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.

The crucial role of the human platelet fibrinogen receptor in maintaining normal hemostasis is best exemplified by the autosomal recessive bleeding disorder Glanzmann thrombasthenia (GT). The platelet fibrinogen receptor is a heterodimer composed of glycoproteins IIb (GPIIb) and IIIa (GPIIIa). Platelets from patients with GT have a quantitative or qualitative abnormality in GPIIb and GPIIIa and can neither bind fibrinogen nor aggregate. Very few genetic defects have been identified that cause this disorder. We describe a kindred with GT in which the affected individuals have a unique inversion-deletion mutation in the gene for GPIIIa. Patient platelets lacked both GPIIIa protein and mRNA. Southern blots of patient genomic DNA probed with an internal 1.0-kb GPIIIa cDNA suggested a large rearrangement of this gene but were normal when probed with small GPIIIa cDNA fragments that were outside the mutation. Cytogenetics and pulsed-field gel analysis of the GPIIIa gene were normal, making a translocation or a very large rearrangement unlikely. Additional Southern analyses suggested that the abnormality was not a small insertion. We constructed a patient genomic DNA library and isolated fragments containing the 5' and 3' breakpoints of the mutation. The nucleotide sequence from these genomic clones was determined and revealed that, relative to the normal gene, the mutant allele contained a 1-kb deletion immediately preceding a 15-kb inversion. The DNA breaks occurred in two inverted and one forward Alu sequence within the gene for GPIIIa and in the left, right, and left arms, respectively, of these sequences. There was a 5-bp repeat at the 3' terminus of the inversion.(ABSTRACT TRUNCATED AT 250 WORDS)     

Marburg variant multiple sclerosis - a case report

In this case report we describe the case of a 24 year-old female with a fulminant demyelinating disease of white matter. Disease progression was most probably consistent with the Marburg variant (malignant form) of multiple sclerosis with rapid deterioration of the patient's clinical condition, including bulbar symptoms and epileptic paroxysms and ending with persistent coma and tetraparesis, over the course of 6 months from first symptoms. Repeated Magnetic Resonance Imaging (MRI) examination showed progression of multiple demyelinating lesions culminating in a contiguous focal disorder of the white matter extending both supratentorially and infratentorially. The serial MRI changes closely mapped the deterioration in the patients clinical status. Our patient showed no response to repeated pulse corticotherapy, administration of intravenous immunoglobulins, serial plasmapheresis, and combined high-dose pulse immunosuppression (specify what was used here) and mitoxantrone.     

Avoidance of obstacles in the absence of visual awareness

The spatial character of our reaching movements is extremely sensitive to potential obstacles in the workspace. We recently found that this sensitivity was retained by most patients with left visual neglect when reaching between two objects, despite the fact that they tended to ignore the leftward object when asked to bisect the space between them. This raises the possibility that obstacle avoidance does not require a conscious awareness of the obstacle avoided. We have now tested this hypothesis in a patient with visual extinction following right temporoparietal damage. Extinction is an attentional disorder in which patients fail to report stimuli on the side of space opposite a brain lesion under conditions of bilateral stimulation. Our patient avoided obstacles during reaching, to exactly the same degree, regardless of whether he was able to report their presence. This implicit processing of object location, which may depend on spared superior parietal-lobe pathways, demonstrates that conscious awareness is not necessary for normal obstacle avoidance.     

Paroxysmal posterior variant alien hand syndrome associated with parietal lobe infarction: case presentation

Alien hand syndrome (AHS) is an involuntary and rare neurological disorder emerges at upper extremity. AHS is a disconnection syndrome with the symptoms of losing sense of agency and sense of ownership, and presence of involuntary autonomic motor activity. There are frontal, callosal and posterior types of AHS and each of them occurs depend on the lesions of different of the brain. Posterior variant is a rarely encountered AHS type compared to others. AHS, generally regarded as persistent, but rarely maybe observed as paroxysmal. In this article, we present 71 year old patient with right posterior parietal lobe infarction and developed posterior variant AHS on left arm 1 month after discharge from the hospital. To discriminate AHS from conditions such as extrapyramidal movement disorders and epileptic seizures that take part in differential diagnosis should be kept in mind by the clinicians. Wrong and unnecessary treatments could be prevented in this way.     

Reoperation for late thrombosis of Lillehei-Kaster mitral valve prosthesis

A 20-year-old woman had received a 22-mm Lillehei-Kaster prosthesis at the age of 16 for progressive mitral valve stenosis. She was asymptomatic for 4 years, when dyspnea on exertion, orthopnea and paroxysmal nocturnal dyspnea recurred. Operation was undertaken and a thrombus of recent origin was found extending from the posterior aspect of the prosthetic ring to the posterior left atrial wall. The sewing skirt was covered with neoendothelium and the valve orifice was not compromised; however, the hinge mechanism on the ventricular surface was overgrown with a dense fibrotic pannus that limited the normal 80 degrees excursion of the tilting disc to 15 degrees. This marked limitation of disc motion produced the equivalent of severe mitral stenosis. The Lillehei-Kaster valve was excised and replaced with a #27 Bj?rk-Shiley prosthesis. The patient improved, and she remains asymptomatic 1 year after surgery.     

Meckel's syndrome: an unusual pedigree

The authors report the case, in the same family, of two children with the Meckel's syndrome, of two mis-arriages (one foetus with anencephalia, the other one with occipital meningocele), and of two still-born children (one with anencephalia, the other one with occipital meningocele). The genetic problems raised by this unusual genealogy are discussed.     

Recurrent Acute Suppurative Thyroiditis Attributable to a Piriform Sinus Fistula in an Adult

ObjectiveTo report a case of recurrent acute suppurative thyroiditis (AST) caused by a piriform sinus fistula (PSF).MethodsWe review the related literature and describe the clinical presentation, diagnostic evaluation, and management of a patient with recurrent AST due to PSF.ResultsA 50-year-old woman presented with recurrent episodes of pain and swelling in the left anterior neck area and odynophagia. The initial episode, 1 year previously, lasted for 1 month, and her condition improved with a short course of prednisone. Subsequently, the neck pain recurred and extended upward to both sides of the neck. She was suspected of having thyroiditis and was treated with prednisone for 6 weeks, but the symptoms persisted. Physical examination showed tenderness and induration of the skin over the left lobe of the thyroid. Ultrasonography disclosed an ill-defined solid-cystic area in the left thyroid lobe. Fine-needle aspiration cytology revealed acute inflammation, consistent with an infected cyst. A computed tomographic scan of the neck showed obscuration of the fat planes involving the left strap musculature and evidence suggestive of microabscesses. Prolonged intravenous antibiotic treatment ultimately alleviated the symptoms. Direct laryngoscopy revealed a fistula extending anteriorly from the apex of the piriform sinus. The patient underwent complete fistulectomy and left thyroid lobectomy and was asymptomatic on followup.ConclusionPSF should be suspected as a cause of recurrent AST. Absence of fever, toxemia, and local erythema does not rule out the condition. Unresponsiveness to corticosteroid therapy in thyroiditis should suggest the diagnosis. Complete fistulectomy and resection of the involved thyroid lobe result in permanent cure. (Endocr Pract. 2007;13:662-666)     

Left ventricular diastolic function in diabetics

Left ventricular diastolic function was studied in 29 young diabetic patients (aged from 14 to 44 years) without any clinical sign of heart disease. The metabolic state, the presence and the degree of microvascular and neuropathic complications have been established. Age and sex matched 32 healthy subjects served as controls. The parameters of left ventricular diastolic function were determined by means of phonomechanocardiography. By this method in diabetic patients impaired diastolic function of the left ventricle was found. This alteration could be best characterized by the values of normalized relaxation index referring to the isovolumetric relaxation of the left ventricle. A close correlation was found between the microvascular and neuropathic complications and the left ventricular diastolic dysfunction, while no correlation could be demonstrated between the metabolic state and the diastolic cardiac disorder.     

The Nature of the Disorder of Function in Chronic Postinfarction Aneurysm of the Left Ventricle

Assessment of left ventricular function in five patients with chronic postinfarction left ventricular aneurysm was carried out at the time of left heart catheterization and compared with that in six normal subjects. One patient was investigated before and after surgical resection of the aneurysm. The presence of the aneurysm placed the left ventricle at a mechanical disadvantage in systole and increased the resistance to diastolic filling (impedance). This was true even in patients with normal cardiac indices who were not badly disabled. Resection of the aneurysm corrected both these abnormalities, and, as well, lowered the time-tension index at a time when calculated left ventricular work was much increased. These differences between normals and patients with aneurysms, and the changes occurring as a result of resection of an aneurysm, show that the presence of the aneurysm places the left ventricle at a mechanical disadvantage in systole as well as altering its diastolic filling characteristics.     

Left superior vena cava, a remnant of embryological development

A 46-year-old Brugada syndrome patient underwent insertion of a dual-chamber implantable cardioverter- defibrillator (ICD), revealing a left-sided superior vena cava (SVC), (figure 1), running, characteristically, left from the sternum and flowing into the great cardiac vein. Following this course, the atrial lead was placed in the right atrium (RA) (figure 2, arrow, note dorsal position). The ventricular lead was inserted through the connecting anonymous vein between left and right SVC (figure 1, double arrow), into the right SVC and right ventricle (RV). The presence of a left superior vena cava results from the persistence of the embryonic left anterior cardinal vein. This anomaly is present in approximately 0.5% of the general population and in 3 to 5% of persons with other congenital heart defects, as established by autopsy.     

Linkage to Tourette syndrome is excluded for red-cell acid phosphatase (ACP1) and flanking markers on chromosome 2pter-2p23

A recent linkage study of Tourette syndrome with markers in the distal region of chromosome 2p gave a contradictory result with red-cell acid phosphatase (ACP1) compared to the nearby anonymous DNA markers. A modifier gene that is suspected of leading to reduced penetrance of the gene that causes the degenerative neurologic disorder Joseph disease has been hypothesized to lie on chromosome 2p25 near the ACP1 locus. Because Tourette syndrome (TS) has also been shown to have reduced sex-specific penetrance, ACP1 typings were performed on 12 families segregating TS, and pair-wise linkage analysis was carried out. Linkage was excluded for nearly 15 cM on either side of the ACP1 locus. Unpublished exclusion data from several laboratories permit exclusion of a linkage group extending from 2pter to 2p23. Furthermore, no support for the presence of any type of modifier of TS gene expression could be seen in these data.