Paraneoplastic syndrome in neuroophthalmology

Journal of Neurology - Paraneoplastic syndrome is a group of clinical symptoms that occur in the state of systemic malignant tumors. Paraneoplastic syndrome of the nervous system can affect any...     

Paraneoplastic syndrome mimicking progressive supranuclear palsy

Paraneoplastic syndrome presenting with progressive supranuclear palsy (PSP) phenotype is extremely rare. We report a patient who presented with features of rapidly progressive parkinsonism similar to PSP and was found to have small cell carcinoma of the lung along with seropositivity for onconeural antigen. The patient was treated with immunomodulation and was given chemotherapy for the malignancy and subsequently improved.     

Paraneoplastic encephalomyelitis and Lambert-Eaton syndrome]

In two men presenting with muscle weakness and disturbances of equilibrium neurophysiological examination by repeated stimulations revealed responses suggestive of Lambert-Eaton syndrome. In the first month of the disease very high levels of anti-Hu antibody were found in the serum and CSF, betraying a malignant lesion. This was confirmed by autopsy 4 months later in one patient and by bronchial biopsy 16 months later in the other patient. Both had small-cell lung carcinoma associated with paraneoplastic encephalomyelitis.     

Cauda equina syndrome revealing neuroblastoma

IntroductionNeuroblastoma is the most common solid tumor of childhood. Neurological involvement is rare resulting from cord or nerve compression.Case reportA 7-year-old child was hospitalized for cauda equina syndrome. MRI showed retroperitoneal lesion with dumbbell intradural spreading. Blood and urinary catecholamine level were elevated confirming the diagnosis of neuroblastoma. She was treated with chemotherapy alone with partial neurological recovery.Discussion and conclusionCauda equina compression revealing neuroblastoma is exceptional especially at an early phase in the youngest patients. Treatment is based on surgical resection and/or chemotherapy and/or radiation therapy. Long-term prognosis is sometimes poor with neurological sequels.     

Paraneoplastic neurologic syndrome: A practical approach

Paraneoplastic neurological syndromes (PNS) are rare disorders associated with cancer, not caused by direct invasion, metastasis or consequences of treatment. They are usually autoimmune in nature. Often, PNS precedes the manifestations of cancer. Onconeural antibodies are important in the diagnosis and management of these disorders. These antibodies are specific for the malignancy rather than for a particular neurological syndrome. Often, there are different antibodies associated with the same syndrome. Multiple antibodies are also known to coexist in a given patient with malignancy. While investigating a patient for suspected PNS, the entire gamut of onconeural antibodies should be investigated so as not to miss the diagnosis. In 30–40% of the cases, PNS can occur without antibodies. Investigations for identifying the underlying cancer can be directed by the antibody panel. If conventional screening for cancer is negative, a positron emission scanning/computed tomography scan can be useful. Patients need follow-up surveillance for cancer if not detected in the first instance. Cancer detection and treatment, immunotherapy and supportive care are important components of treatment of PNS. Immunotherapy is very effective in PNS associated with cell membrane-associated antibodies like voltage-gated potassium channel complex, NMDA receptor antibodies and voltage-gated calcium channel antibodies. Immunotherapy includes steroids, IVIgG, plasmaphereis, cytotoxic medications and rituximab. Supportive therapy includes symptomatic treatment with antiepileptic and analgesic medications, physiotherapy, speech therapy and occupational therapy. PNS can mimic any neurologic syndrome. A high index of clinical suspicion is important for early diagnosis and prompt management and better outcome.     

Rigid spine syndrome revealing late-onset Pompe disease

The authors describe a 50-year-old man who was evaluated for a rigid spine syndrome with onset at age 15, and subsequent walking difficulties. Cardiac and pulmonary functions were normal. Deltoid biopsy revealed the presence of small vacuoles and increased glycogen with Periodic Acid Schiff staining in a limited number of fibers. Acid α-glucosidase staining was decreased in leucocytes, and genetic analysis identified the presence of two mutations in that gene. This observation suggests that Pompe disease should be considered in the differential diagnosis of rigid spine syndrome, even in patients without respiratory involvement or with a muscle biopsy showing only mild histopathological changes.     

Paraneoplastic neurological syndrome: growing spectrum and relevance

Neurological Sciences - Paraneoplastic neurological syndromes (PNSs) are group of disorders affecting one or multiple parts of the neuroaxis associated with underlying tumors. An antibody or...     

Neuropsychiatric symptoms revealing pseudohypoparathyroidism with Fahr's syndrome

Fahr's syndrome is characterized by the presence of intracerebral, bilateral and symmetrical non-arteriosclerotic calcifications, located in the central grey nuclei. One of its main etiologies is pseudohypoparathyroidism (PHP), due to a resistance to the action of parathormone (PTH) with essentially hypocalcaemia and a normal or a high rate of PTH.

Case report

Mr B.A. is a 36-year-old man, admitted to hospital because of refractory psychotic symptoms associated with alcohol abuse and fits of convulsion, for diagnostic and therapeutic update. Mr B.A. had presented convulsions since the age of 10, without regular medical treatment. He showed a decrease in his school performances and started using alcohol. Since the age of 17, he began expressing delusions of persecution and of enchantment fed by the persistence of the convulsions. He was administered phenobarbital, and classic antipsychotics (haloperidol and levomepromazine) and developed serious extrapyramidal side effects, treated with an anticholinergic (trihexyphenidyl). Evolution was rather disadvantageous: more epileptic fits, exaggeration of tremors; abuse of alcohol and persistence of psychotic symptoms. On admission, psychiatric examination objectified paranoid delusions of being possessed and persecuted by others. Neurological examination revealed the presence of limb tremors, with a positive Froment's sign on the right, and dysarthria. Other than this, the patient was shorter in comparison with his siblings and exhibited bad dentition. A CT brain scan found bilateral, symmetric basal ganglia calcifications, confirmed by MRI, in favour of Fahr's syndrome. Phosphocalcic investigations revealed a low concentration of serum calcium (65 mg/l) and a hyperphosphataemia (60.1 mg/l). The blood level of parathyroid hormone was in the upper limit of normal (66 ng/l), and levels of thyroid hormones and thyroide-stimulating hormone were normal. The diagnosis of Fahr's syndrome, revealing a pseudohypoparathyroidism was posed, and the patient was orientated to endocrinology after readjustment in his therapy (sodium valproate and olanzapine).

Discussion

About 40% of the patients with Fahr's syndrome are seen with primarily cognitive and other psychiatric findings. For this patient, hypocalcaemia was at the origin of his convulsions, and the use of phenobarbital, known for its hypocalcemiant action, provoked the inverse result. Alcohol drinking also aggravated hypocalcaemia, and maintained the fits. The use of classic antipsychotics and anticholinergic agents, amplified the extrapyramidal signs caused by Fahr's syndrome. Recognizing the origin of the symptoms allowed rethinking the therapeutic strategy according to all these elements.

Conclusion

Psychiatrists should consider Fahr's syndrome as a differential diagnosis in the evaluation of psychosis associated with convulsions. This case, along with others in the literature, further emphasizes the importance of the role of neuro-imaging and the search for disrupted phosphocalcic metabolism in patients with atypical or refractory psychotic symptoms.     

Screening for autoantibodies in children with opsoclonus-myoclonus-ataxia

Various paraneoplastic autoantibodies have been linked to discrete neurologic syndromes and tumors in adults, but little is known about their incidence in children. We report a cross-sectional study of known paraneoplastic antibodies in 59 children with opsoclonus-myoclonus-ataxia, 86% of whom were moderately or severely symptomatic, and 68% of whom had relapsed at the time of testing. This total number of patients includes 18 children with low-stage neuroblastoma (tested after tumor resection), six of whom had never been treated with immunosuppressants. All were seronegative for anti-Hu, anti-Ri, and anti-Yo, the three paraneoplastic antibodies most associated with opsoclonus-myoclonus or ataxia in adults. These data contrast with reports of anti-Hu-positive sera in children with high-stage tumors and suggest that anti-Hu, anti-Ri, and anti-Yo do not explain relapses in pediatric opsoclonus-myoclonus-ataxia. They underscore the need to search for unique autoantibodies, as well as cellular mechanisms of pediatric paraneoplastic disease.