Rare Central Nervous System Manifestation Research Articles

A case of rheumatoid meningitis with elevated antibody titer indices of anti‐cyclic citrullinated peptide antibody and anti‐galactose‐deficient IgG antibody

AbstractRheumatoid meningitis (RM) is a rare central nervous system manifestation of rheumatoid arthritis (RA). A meningeal biopsy is useful for diagnosis but is invasive and not very sensitive. We report about a patient with RM who was diagnosed using indices of anti‐cyclic citrullinated peptide (CCP) antibody and anti‐galactose‐deficient IgG antibody (carbohydrate in rheumatoid factor [CARF]) and who had refused to undergo biopsy. The patient's antibody titer indices of anti‐CCP antibody and CARF were 21.01 and 4.44, respectively. The patient's symptoms and abnormalities on brain magnetic resonance imaging improved after steroid therapy. Antibody titer indices of the anti‐CCP antibody and CARF can be used to diagnose RM in cases where biopsy is unavailable.

Intracranial myeloid sarcoma presentation in distant acute myeloid leukemia remission

Intracranial myeloid sarcoma (IMS) is a rare central nervous system manifestation of hematopoietic neoplasms of myeloid origin. We report the first case of IMS treatment with an isocitrate dehydrogenase-2 (IDH-2) inhibitor, Enasidenib, following surgical resection, whole-brain radiation, and consolidation Etoposide/Cytarabine therapy. A 42-year-old female was diagnosed with IMS after a 10-year remission of her acute myeloid leukemia (AML). She underwent surgical debulking and had postoperative resolution of her visual symptoms. She received adjuvant radiation and medical management, and continues to show no evidence of recurrence or progression at 17 months postoperatively. This case is notable for an isolated IMS presentation in a patient with a very distant history of AML remission, and without evidence of concurrent bone marrow relapse. The goals of neurosurgical intervention should be symptomatic relief of mass effect and pathological diagnosis, due to the sensitivity of IMS to adjuvant radiation and medical management such as IDH-2 inhibitors.

Rheumatoid leptomeningitis presenting with an acute neuropsychiatric disorder

Leptomeningitis is a rare central nervous system manifestation of rheumatoid arthritis, generally in patients with established chronic rheumatoid disease. We report a 41-year-old man without previous rheumatoid arthritis or psychiatric...

Acute disseminated encephalomyelitis: A rare central nervous system manifestation of dengue hemorrhagic fever

Acute disseminated encephalomyelitis (ADEM) is a rare central nervous system manifestation of dengue hemorrhagic fever. We report a 14-year-old male who presented to the emergency department with complaints of fever, vomiting and headache for last 6 days and altered sensorium for last 1 day. On general physical examination, he had multiple petechial spots over the trunk. In central nervous system examination child was having neck stiffness, intermittent decerebrate posturing, brisk deep tendon reflexes, hypertonia in all the limbs, bilateral plantars extensors and sluggishly reacting small pupils. His initial investigations revealed hemoglobin of 12 g/dL, total white cell count 7.500 cells/mm3, platelet count 70,000 cells /mm3, urea 59 mg/dL, creatinine 0.9 mg/dL, calcium 9.1 mg/dL, sodium 140 mEq/L, potassium 4.6 mEq/L and a positive dengue IgM (39.4 panbio units, normal < 11 panbio units) by capture enzyme-linked immunosorbent assay method (PAN BIO KIT, Australia). In view of fever, petechial spots, shock, low platelet counts and a positive dengue serology, a diagnosis of dengue hemorrhagic fever was kept. Magnetic resonance imaging report showed symmetrical hyperintensities on T2-weighted and fluid-attenuated inversion recovery images involving bilateral cerebellar hemispheres, bilateral middle cerebellar peduncles, brain stem, bilateral thalami, hypothalamus and periventricular deep and subcortical white matter, suggesting ADEM. Previously only two cases of ADEM in dengue fever have been reported.

Intraventricular granulomatous mass associated with Mycobacterium haemophilum: A rare central nervous system manifestation in a patient with human immunodeficiency virus infection

We report a rare case of Mycobacterium haemophilum presenting as an intraventricular granulomatous mass with loculated hydrocephalus and seizures in a patient with human immunodeficiency virus. M. haemophilum, a slow-growing mycobacteria, causes localized and disseminated disease among immunocompromised hosts. Central nervous system infection with M. haemophilum is extremely rare. Preoperative laboratory testing of our patient for tuberculosis, toxoplasmosis, sarcoidosis and histoplasmosis were negative. Surgical resection of the mass revealed a caseating granuloma that stained positive for acid-fast bacillus suggesting possible tuberculoma. Despite negative testing for tuberculosis, a polymerase chain reaction analysis was ultimately performed from the resected mass which revealed M. haemophilum. To our knowledge, this is the first case of M. haemophilum presenting as an intraventricular mass. We review the clinical manifestations of this pathogen and discuss the medical and surgical management.

A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis

Leptomeningeal amyloidosis is a rare central nervous system manifestation of systemic amyloidosis from transthyretin (TTR) mutation. Ten TTR gene mutations associated with this condition have been described. We report the clinical, radiological, and pathological features of a case of leptomeningeal amyloidosis from a novel Thr49Pro TTR gene mutation. A 53 year-old man presented with recurrent episodes of transient aphasia and right hand stiffness, headaches, and peripheral neuropathy. A surgical biopsy of the leptomeninges and superficial cortex, and DNA sequences of the TTR gene were analyzed. Elevated cerebrospinal fluid (CSF) protein and diffuse leptomeningeal enhancement of the neuraxis from the cortical sulci to the cauda equina on contrast MRI were the defining clinical features. A surgical biopsy revealed TTR amyloid deposition in the subpia and within the leptomeningeal blood vessels. DNA sequencing showed a proline-for-threonine substitution at codon 49 of the TTR gene in one allele. A novel Thr49Pro TTR gene mutation is associated with leptomeningeal amyloidosis resulting in recurrent CNS symptoms.