Cristiane Franklin Rocha

Aquaporin-4 antibody-positive myelitis initially biopsied for suspected spinal cord tumors: Diagnostic considerations

Two patients with longitudinally extensive myelopathy were initially biopsied for suspected spinal cord tumors. Both patients were later diagnosed with neuromyelitis optica spectrum disorders (NMOSD) supported by their AQP4-seropositivity. Pathological review of both biopsies revealed demyelinated lesions with thickened vessel walls and tissue rarefaction. Immunohistochemical staining demonstrated findings compatible with acute NMOSD lesions in one case while the other case exhibited findings consistent with chronic NMOSD lesions. A pre-biopsy differential diagnosis of longitudinally extensive spinal cord tumors should include NMOSD. Specific biopsy features, such as cystic changes with vascular wall thickening and astrocyte injury, should raise suspicion for NMOSD.

European Ancestry Predominates in Neuromyelitis Optica and Multiple Sclerosis Patients from Brazil

Background Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients. Methods Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP), Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP). Principal Findings European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7%) patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5%) patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. Conclusions Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil.

NMO-DBr: the Brazilian Neuromyelitis Optica Database System

OBJECTIVEnTo present the Brazilian Neuromyelitis Optica Database System (NMO-DBr), a database system which collects, stores, retrieves, and analyzes information from patients with NMO and NMO-related disorders.nnnMETHODnNMO-DBr uses Flux, a LIMS (Laboratory Information Management Systems) for data management. We used information from medical records of patients with NMO spectrum disorders, and NMO variants, the latter defined by the presence of neurological symptoms associated with typical lesions on brain magnetic resonance imaging (MRI) or aquaporin-4 antibody seropositivity.nnnRESULTSnNMO-DBr contains data related to patients identification, symptoms, associated conditions, index events, recurrences, family history, visual and spinal cord evaluation, disability, cerebrospinal fluid and blood tests, MRI, optic coherence tomography, diagnosis and treatment. It guarantees confidentiality, performs cross-checking and statistical analysis.nnnCONCLUSIONnNMO-DBr is a tool which guides professionals to take the history, record and analyze information making medical practice more consistent and improving research in the area.

Treatment of cerebral cysticercosis with albendazole in elevated dosages

th 2006, the patient was readmitted with paralysis of the right third nerve and left hemiparesis. MRI revealed a resolution of the hydrochepaly and an increase on the size of the lesion in the prepontine cisterna, with a significant compression of the mesencephalous, which justified the alternate syndrome (Fig 2D and 2E). Also, there is still presence of bilateral chronic subdural hematoma, bigger at right, which was probably a consequence of the shunt (Fig 2F). The patient went through surgical drainage of the hematoma but there was no improvement of the hemiparesis and ptosis. The ventricular cateter was not removed. A new therapeutic treatment was accomplished using albendazole 30 mg/Kg dose, for 30 days, along with dexamethasone IV during the first week of treatment. The patient was discharged and completed the treatment at home, with oral corticoids in a decreasing way. Control CT after 15 days of treatment showed a resolution of the subdural hematoma, but also the persistence of the lesion in the cistern (Figs 3-A and 3-B). The patient’s neurological deficits did not change. After the therapeutic treatment was finished, the patient re turned with significant improvement of the hemiparesis and pto sis. No side effects were noticed during this time. A CT scan, 60 days after the beginning of the treatment, revealed a decrease in the size of the cyst of the basal cistern, and totally recovery of the focal deficits (Fig 3C).

Meningioma after immunomodulation for multiple sclerosis

The coexistence of multiple sclerosis (MS) and central ner vous system (CNS) tumors has been reported in more than 30 cases in literature. Meningiomas have been rarely seen in MS patients and their occurrence has been observed during the course of immunomodulatory drugs such as interferon beta1a and beta-1b 1-3 . We report a case of a frontal meningioma in a patient with relapsing-remitting multiple sclerosis (RRMS) treated with interferon beta-1a for seven years followed by glatiramer acetate for three years.

Hipocalcemia e crises neonatais: Um caso raro de hipoparatireoidismo congênito

We report the case of a white male infant, 2 months-old, with tremor and hypertonia since 15th day of life transferred to our service and diagnosed as seizures. Investigation showed hypocalcaemia (4 mg/dl) and hypomagnesemia (1.6 mg/dL) and the infants serum metabolic disturb was corrected by intravenous calcium gluconate and magnesium sulphate, but attempted to wean him from intravenous treatment led to a relapse of hypocalcemia. At this time hypoparathyroidism was suspected and the additional investigation confirmed this suspect ion. The neurologic examination revealed an irritable patient with marked extensor hypertonia and opisthotonos. Cranial CT and MRI scans were normal, but the EEG exam showed severe abnormalities. The infant was given the oral calcium gluconate, magnesium chloride and colecalciferol daily to maintain a normal calcium concentration, but the control was very difficult. The patient had an extend hospitalization of 6 months and death was due to repetitive infection. We discuss the clinical findings, imaging, EEG exam, differential diagnosis and treatment of this disorder.

Aspectos clínicos e Neurorradiológicos do pseudo-hipoparatireoidismo: relato de caso

Os autores relatam o caso de um paciente do sexo masculino, de 18 anos, com baixa estatura, epilepsia e deficiencia mental, alem de calcificacoes dos gânglios da base. Os achados clinicos e laboratoriais sugeriram pseudo-hipoparatireoidismo. Trata-se de patologia rara, de base genetica, secundaria a resistencia periferica ao hormonio da paratireoide e que evolui com excitabilidade neuromuscular, baixa estatura e calcificacoes dos gânglios da base, entre outros achados. Sao discutidas as formas diagnosticas e a terapeutica empregada, seguidas de breve revisao da literatura sobre calcificacao dos gânglios da base.

Topiramate: an experience in children with partial epilepsy

Topiramate (TPM) is a new drug currently used in Brazil. We verified the clinical responses to TPM in children under 15 years-old. We started with 12.5 mg/day (1-7 mg/kg/day) and the doses increased 12,5 mg each week. Eleven children were studied, 9 females and 2 males, from 3 to 14 years-old with partial epilepsy associated to different etiological factors. Only one patient had an intense abdominal pain. The patients had weekly or daily seizures and after began TPM 1 patient stayed free from seizures, 5 improved more than 75% in frequency, 1 patient improved more than 50% and 3 had no control. A good control of seizures was achieved with a low dose of TPM as monotherapy and add-on therapy with carbamazepine even in severe cases.