25 Cerebellar cognitive affective syndrome – a case report of diagnosis and management using selective serotonin and norepinephrine reuptake inhibitors

Objectives/aimsThe objective of this case is to describe and report on a case of Cerebellar Cognitive Affective Syndrome (CCAS) which improved after the use of high dose venlafaxine therapy. To our knowledge, there are only a few case reports discussing on the effectiveness of various drug therapies in CCAS patients and none had reported on the use of Selective Serotonin and Norepinephrine Reuptake Inhibitors (SNRI).MethodsWe describe a 55-year-old male with a history of partially excised grade 1 left cerebellar haemangioblastoma in 2005 followed by Gamma Knife in 2006.Unfortunately, he suffered a recurrence in 2018 requiring embolisation of the haemangioblastoma followed with surgery to resect the tumour. He presented to our specialist neuropsychiatric unit following episodes of new acute unprovoked behavioural changes after surgery. During these episodes, he would become verbally abusive, refuse to engage in any rehab activity, refuse any oral intake, become sexually disinhibited, and experience distressing hallucinations. On the neuropsychiatric ward, he continued to have episodes of severe emotional regulation difficulties. There were no obvious triggers identified and it was noted that the peaks and troughs in his behaviour lasted for a few days before self-resolving and did not follow any particular pattern. In between these episodes, the patient was pleasant, engaging in physiotherapy, and conversed normally with staff.ResultsHe scored a total of 4 out of 10 on the CCAS-scale. A diagnosis of CCAS was concluded given the extensive history of cerebellar injury, nature of presenting complain, and his CCAS-scale score. He was started on high dose SNRI (Venlafaxine XL 150 mg BD). On repeating the CCAS-scale after being on SNRI for 4 months, his score was worse at 6 out of 10. However, we observed a decrease in the frequency, duration, and severity of behavioural change after commencement of SNRI. He benefited greatly from physiotherapy on the ward however despite our best efforts functional independence was not regained. He had to be transferred with the aid of 2 members of staff and mobilises with the aid of an electronic wheelchair.ConclusionsCCAS is a complex disease and the management is yet to be agreed on by the neuropsychiatry community. Our case report illustrated the therapeutic benefit of venlafaxine in the treatment of severe emotional regulation difficulties associated with resection of a cerebellar haemangioblastoma. Furthermore, patients with cerebellar injuries should be managed in a multi-disciplinary manner with input from neurology, neuropsychiatry, neuropsychology, occupational therapist, and physiotherapist.

The polycythaemias

Polycythaemia or erythrocytosis is characterized by an abnormal increase in the numbers of red blood cells, leading to an elevation in the haemoglobin concentration and haematocrit (>49% in men and >48% in women). The cause may be either (1) primary—due to an intrinsic defect of haematopoietic stem cells; or (2) secondary—due to extrinsic stimulation of progenitor erythroid cells by circulating growth factors; and the condition needs to be distinguished from (3) pseudopolycythaemia—in which haematocrit is raised because the plasma volume is decreased. Secondary polycythaemias: associated with appropriate erythropoietin secretion—conditions that are ultimately the result of tissue hypoxia and subsequent excessive erythropoietin production include (1) living at high altitude, (2) chronic lung disease, (3) cyanotic congenital heart disease with right-to-left shunting, (4) carbon monoxide intoxication—as occurs in heavy smokers, (5) haemoglobin variants with increased oxygen affinity, and (6) mutations in genes involved in the oxygen sensing pathway. Associated with inappropriate erythropoietin secretion—in the absence of tissue hypoxia, inappropriate erythropoietin production commonly originates from the kidney and many renal disorders are associated with erythrocytosis. Tumour-associated polycythaemia may also result from cerebellar haemangioblastoma, hepatocellular carcinoma, phaeochromocytoma, and other adrenal tumours. Primary polycythaemia: polycythaemia vera—is a clonal, chronic progressive haematological malignancy characterized by excessive proliferation of erythroid, myeloid, and megakaryocytic elements in the bone marrow. Aetiology—up to 95% of cases are caused by somatic mutations in the pluripotent haemopoietic stem cells leading to replacement of a key valine residue by phenylalanine at position 617 of the JAK2 kinase (V617F), which releases it from autoinhibition. Less common mutations have been described recently, primarily JAK2 exon 12 and LNK mutations.

A Culture-Proven Case of Community-AcquiredLegionellaPneumonia Apparently Classified as Nosocomial: Diagnostic and Public Health Implications

We report a case ofLegionellapneumonia in a 78-year-old patient affected by cerebellar haemangioblastoma continuously hospitalised for 24 days prior to the onset of overt symptoms. According to the established case definition, this woman should have been definitely classified as a nosocomial case (patient spending all of the ten days in hospital before onset of symptoms). Water samples from the oncology ward were negative, notably the patient’s room and the oxygen bubbler, and the revision of the case history induced us to verify possible contamination in water samples collected at home. We found that the clinical strain had identical rep-PCR fingerprint ofL. pneumophilaserogroup 1 isolated at home. The description of this culture-proven case of Legionnaires’ disease has major clinical, legal, and public health consequences as the complexity of hospitalised patients poses limitations to the rule-of-thumb surveillance definition of nosocomial pneumonia based on 2–10-day incubation period.