Trisomy 9: Review and report of two new cases

Trisomy 9 is a relatively uncommon chromosome abnormality that may sometimes be seen in the nonmosaic state. We reviewed 23 mosaic and 15 nonmosaic cases of trisomy 9, including 2 new cases, in order to better define the prognosis and phenotype of this disorder. A recognizable trisomy 9 phenotype was identified and included a “bulbous” nose, microphthalmia, and dislocated limbs. Other nonspecific anomalies involving various organ systems were also common. With one exception, all survivors had severe mental impairment. Mosaicism for trisomy 9 predicted longer survival, but the degree of mosaicism in lymphocytes or fibroblasts did not predict survival or degree of impairment. Parental chromosome variations were not uncommon. In contrast to prior reports, no specific prognostic finding was identified. A meiotic origin with loss of a trisomic cell line in mosaic cases is suggested. © Wiley-Liss, Inc.     

Malignant lymphomas of the salivary glands. Review of the literature and report of 33 new cases, including four cases associated with the lymphoepithelial lesion.

Malignant lymphomas involving major salivary glands have been reported to occur in 31 cases. To these, we add 33 cases, 17 of which were studied in detail from the points of view of clinical presentation, classification (Rappaport), staging (Ann Arbor), therapy, and subsequent course. The parotid gland was involved much more frequently than the submandibular gland. No example of sublingual gland involvement was discovered in the present series. Most of the patients were in the sixth and seventh decades of life. Noteworthy is that all sub-types of lymphosarcoma were encountered, with only a single case of Hodgkin's disease present. In four of the patients, the characteristic histologic picture of lymphoepithelial lesion was found in juxtaposition to malignant lymphoma. The majority of patients received one or more courses of postoperative radiotherapy, which offered the best chance for long-term remission. However, only 40% of patients were free of disease after two years.     

A split and conjoined median nerve in the forearm

We observed a variation of the median nerve that split into two divisions in the proximal forearm and conjoined into a single cord in the distal forearm before entering the carpal tunnel. The medial division was larger than the lateral division. An aberrant muscular slip from the flexor digitorum superficialis ran over the medial division of the split median nerve. The muscular slip over the medial division might have caused an entrapment syndrome of this nerve due to several muscular and cutaneous branches originating from the medial division. This variation of the median nerve has not been reported to our knowledge and may affect diagnosis and treatment of any neuropathy of the median nerve.     

Injury to the lateral cutaneous nerve of forearm after venous cannulation: a case report and literature review

Venepuncture may be associated with nerve injuries and is commonly performed at the median cubital vein (MCV). Injuries to the superficial radial nerve at the wrist and to the median nerve, anterior and posterior interosseus nerves and medial and lateral cutaneous nerves (LCN) of the forearm at the cubital fossa have been reported. The LCN is a sensory branch of the musculocutaneous nerve and the position of the nerve in relation to the MCV is variable within the cubital fossa. The LCN supplies sensory innervation to the C6 dermatome corresponding to an area of skin overlying the radial border of the forearm. We report the case of a 30-year-old right-handed woman who presented with loss of sensation in the left forearm after donating blood at a transfusion centre. This was due to an injury of the LCN. After 3, 18 and 36 months of follow-up, the sensory deficit had only improved minimally. The lack of recovery of the sensation after 36 months indicates a permanent nerve injury such as neurotmesis rather than neurapraxia of the LCN. A thorough knowledge of the clinical anatomy of the MCV and the LCN, which is highlighted, is essential in preventing venepuncture-associated nerve injury.     

扩张神经法修复前臂神经缺损

用皮肤扩张器扩张神经,对2例前臂正中或尺神经缺损的患者进行了修复。神经被扩张以后,肉眼观其结构完整,可延长2～2.5cm。术后9.5～11个月复查时,见所有经过扩张的神经传导速度较慢,但临床上感觉和运动功能恢复均较满意。本文对术中所见和改善修复效果问题进行了讨论。     

Mucocutaneous angiomyolipoma. A report of 2 cases arising in the nasal cavity.

OBJECTIVE: Angiomyolipoma (AML) is a distinctive tumor that usually occurs in the kidney and rarely in the liver. Angiomyolipoma of other sites is extremely rare, and, to our knowledge, only 2 cases have been described in the nasal cavity. We present 2 additional cases of AML of the nasal cavity and discuss the difference between them and renal AML. CASE REPORTS AND PATHOLOGIC FINDINGS: Two tumors in a 66-year-old man and an 88-year-old woman without tuberous sclerosis are described. They showed 20-mm, well-circumscribed, polypoid shapes. Histologically, they were composed of mature smooth muscle cells, fat cells, and various-sized blood vessels. In addition, aggregated small lymphocytes were noted. Neither epithelioid smooth muscle cells nor HMB45 immunoreactivity was seen in either case. CONCLUSIONS: The clinicopathologic features of AML of the nasal cavity are distinct from renal and hepatic AML and are common to those of AML arising in the skin and oral and pharyngeal mucosa. The term mucocutaneous angiomyolipoma is thought to be appropriate to express these characteristic tumors.     

Eccrine syringofibroadenoma: a report of 2 cases.

Eccrine syringofibroadenoma is a rare benign tumor of the skin arising from the acrosyringeal portion of the eccrine duct. The tumor was first described by Mascaro in 1963, and since then only 8 case reports in 6 publications have been documented. This lesion is likely to be misdiagnosed both clinically and histologically due both to its rarity and its similarity to other more aggressive skin tumors. This report of 2 cases is presented to highlight the salient pathologic and clinical features of the tumor and to describe the long term follow up of 2 patients in whom the lesions have been electively reviewed rather than excised.     

On a complex anastomosis of the glossopharyngeal nerve in humans

The glossopharyngeal nerve shows anastomoses with the facial nerve and the sympathetic nervous system. One anastomosis extends from the interconnected stylopharyngeal branches, immediately after having perforated the muscle towards the base of skull. Cranially, varying targets of the ascending nerve can be discriminated: 1) The temporal bone. 2) The facial nerve. 3) The sympathetic nerve plexus of the internal carotid nerve. This complex anastomosis was now studied under the dissecting microscope in more detail. The investigation revealed a more complicated distribution pattern of the anastomotic nerve than previously assumed, i.e. the existence of a solitary ascending branch could only be proved in a minority of cases (seven of twenty individuals). In the majority, a delicate nerve plexus could be visualized (thirteen of twenty individuals). In the cases of an anastomosis with the facial nerve, the stylohyoid branch was observed to be the main target of the ascending nerve. Also, connections with the internal carotid nerve were seen. In addition, delicate endings of the branches were demonstrated ramifying in the styloid process or penetrating the temporal bone at other sites. The histological demonstration of ganglion cells within the ascending nerve or nerve plexus suggests parasympathetic and sensoric functions for this anastomosis.     

Microanatomy and number of nerve fibres of the lower intercostal nerves with respect to a nerve anastomosis. Donor nerve analysis. I. (IV).

A human intercostal nerve has about 10,000 myelinated nerve fibres, of which about 1000 to 2000 are motor. At about the axillary line the nervus intercostalis splits into the ramus cutaneous lateralis and a deep branch to the musculus rectus abdominis and other muscles. The ramus cutaneous lateralis consists of 2 skin branches of about 3000 nerve fibres and a muscle branch to the musculus obliquus externus of about 400 to 1100 nerve fibres. The deep branch to the musculus obliquus internus, the musculus transversus and the musculus rectus abdominis and the anterior skin consists of about 2500 to 7000 fibres of which 400 to 1700 are skin fibres. There is indication that the muscle branch to the musculus obliquus externus has about 50% motor fibres. The intercostal nerve is, as it splits after about 20 cm into 4 branches, a suitable donor of at least 2 different muscle functions and a skin sensible function for a direct nerve anastomosis. A crude model for calculating matching probabilities of motor and sensory fibres between donor and acceptor nerves is introduced. Besides the importance of having enough donor nerve fibres, it is calculated that the small amount of motor nerve fibres can be best used if muscle branches of the donor nerves are connected to muscle branches of the acceptor nerves. Because of the separation between normal laboratory animals and humans on the phylogenetic scale, differences in regeneration and plasticity are discussed.     

Gastrointestinal autonomic nerve tumours: a report of nine cases

We describe the clinicopathological features of gastrointestinal autonomic nerve tumours in nine patients where the diagnosis was confirmed by electronmicroscopy. Most patients presented with abdominal pain. At laparotomy, large intra-abdominal tumour masses were found which tended to be cystic and haemorrhagic. The predominant histological patterns were nests, sheets and fascicles of spindle and epithelioid cells. Immunohistochemistry showed positive staining for neuron specific enolase (9/9), PGP 9.5 (9/9), NKI/C3 (7/9), vimentin (7/9), α-smooth muscle actin (5/9), vasoactive intestinal peptide (3/9) and CD34/QBend10 (2/9). Grimelius staining was positive in two of nine cases. All tumours were negative for CAM 5.2, chromogranin, synaptophysin, Leu 7, neurofilament protein, muscle-specific actin (HHF-35) and desmin (D33). Ultrastructural examination showed cellular processes and dense-core granules in all cases. Three tumours had microtubules and/or intermediate filaments, particularly in cell processes. Skeinoid fibres were seen in three cases. No convincing synapses or small (synaptic-type) vesicles were identified. There was no evidence of epithelial, smooth muscle or nerve sheath differentiation. Two patients died due to tumour, two died of unknown causes and the remainder are alive 2–44 months after presentation. Four of the five survivors have recurrent/residual intra-abdominal tumour. So-called gastrointestinal autonomic nerve tumours are apparently slow-growing malignant tumours showing neuronal differentiation. Four cases arose in the mesentery/retroperitoneum or omentum rather than bowel wall and therefore a more appropriate nomenclature might be intra-abdominal stromal tumour with neuronal differentiation.