[Spectrum of neuropsychiatric features associated with velocardiofacial syndrome (Deletion 22q11.2)]. / Das neuropsychiatrische Spektrum des Velokardiofazialen Syndroms (Deletion 22q11.2).

Microdeletion 22q11.2 (22q11DS) is the most frequent chromosomal deletion known in man. Velocardiofacial syndrome is one of numerous clinical syndromes that can be attributed to this micro deletion. There is an increasing recognition of associations with neuropsychiatric disorders. Particularly, schizophrenic psychosis, attention-deficit/hyperactivity disorder (ADHD), intellectual impairment and learning disabilities, seizures and motoric abnormalities have been identified in patients with 22q11DS. Recent studies supported the association of schizophrenia and 22q11DS, but the pathogenetic implications for idiopathic schizophrenia are still controversial. We report on two clinical cases in which psychotic symptoms led to the molecularcytogenetic diagnosis of microdeletion 22q11.2. Additionally, this article gives a systematic review of literature regarding psychiatric disorders, neurologic symptoms and partly corresponding morphological brain abnormalities in 22q11 deletion syndromes.

[Mental disorders associated with multiple sclerosis]. / Psychische Störungen als Begleiterkrankungen der Multiplen Sklerose.

HISTORY: Findings are reported in 4 patients with multiple sclerosis (MS) and various mental disorders which were directly associated with the underlying disease, with disease-related increased vulnerability, were a reactive response or had occurred independently of the MS. CASE 1: A 53-year-old woman with MS for 24 years developed cognitive disorders with markedly impaired quality of life. CASE 2: A 44-year-old man with MS for 8 years had depression and felt suicidal. CASE 3: A 58-year-old woman with MS for 35 years suffered from both depression and symptoms of a compulsive-obsessive disorder. CASE 4: A 19-year-old woman with MS for 2 years was treated by a psychiatrist for the first time when she developed acoustic hallucinations and suicidal ideation during cortisone treatment. DIAGNOSIS, TREATMENT AND COURSE: CASE 1: The progressive mental disorder was classified as manifestation of the chronic progressive MS: it was treatment-refractory. CASE 2: The patient underwent psychotherapy as both an in- and out-patient. His depression was thought to be reactive and improved well under this treatment, despite the deterioration of the MS, requiring him to use a wheel-chair. CASE 3: The compulsive-obsessive symptoms persisted during medication for depression, for which she then received behavioral treatment. CASE 4: The initial symptoms of hallucination and suicidal ideation ceased when cortisone was stopped. A diagnosis of borderline personality was made, based on her continuing symptoms of impaired impulse control, abnormal affect, distorted self-image, a feeling of inner emptiness, agitation with suicidal tendency and factitious injuries. The renewed occurrence of acoustic hallucinations and suicidal tendency occurred independently of cortisone treatment and was interpreted as expression of inflammatory disease activity, but differential diagnosis had to consider the patient s personality disorder, too. CONCLUSION: Mental disorders in patients with MS are manifold and their causes are complex. It is important to recognize these associated diseases and initiate individualized treatment, because they considerably impair the patients quality of life.

Lymphocytes in the bronchoalveolar space reenter the lung tissue by means of the alveolar epithelium, migrate to regional lymph nodes, and subsequently rejoin the systemic immune system.

Lymphocytes in the bronchoalveolar space are routinely obtained and examined in lung diseases such as asthma or sarcoidosis. In a pig model, labeled lymphocytes were found in regional lymph nodes after intrabronchial instillation, indicating that reentry of lymphocytes from the bronchoalveolar space into the body is possible. In the present study, the route and kinetics of the reentry of bronchoalveolar lymphocytes were investigated in a congenic rat model using immunohistochemistry on cryostat and semithin sections and confocal laser scanning microscopy. As early as 15 min after intratracheal instillation lymphocytes were found to leave the bronchoalveolar space by transmigration through alveolar but not bronchial epithelium and were observed in interstitial alveolar tissue. At 6 hr after intratracheal instillation, T and B lymphocytes appeared in the draining lymph nodes of the lung with an increase after 24 and 48 hr. The kinetic pattern clearly differed in nondraining lymph nodes and other organs. After 6 hr, only single cells were found in nondraining lymph nodes, spleen, and blood with a slight increase after 24 hr, and only occasionally were single cells seen in the liver, thymus, or Peyer's patches 24 and 48 hr after instillation. In conclusion, T and B lymphocytes can leave the alveolar space by reentry into the lung tissue through alveolar epithelium. They reach regional lymph nodes by means of lymphatic vessels and are then distributed all over the body to rejoin the systemic immune system. Coming into contact with environmental antigens, these lymphocytes could perform an important function in the lung immune system and might be a target for inhalative therapy.

Unusual presentation of a primary spinal Burkitt's lymphoma.

Primary CNS lymphomas are detected with increasing frequency in immunocompetent and immunodeficient persons. Primary involvement of the spinal roots has only rarely been reported. The unusual history is described of a patient with a primary spinal Burkitt's lymphoma initially presenting as an S1 syndrome showing lymphocytic pleocytosis in the CSF, leading to the misdiagnosis of meningoradiculitis. Repeated spinal MRI disclosed a spinal mass lesion and histological and immunohistological examination of the tumour confirmed the diagnosis of spinal Burkitt's lymphoma.