Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder which possibly results from defective regulation of fusion of primary lysozomal granules, with delayed microbial killing. 1,2 The condition is characterized by partial oculocutaneous albinism, frequent pyogenic infections, abnormally large granules in the leukocytes and other granule-containing cells (including platelets, melanocytes, renal tubular cells, pneumocytes, gastric cells, hepatocytes, neuronal cells and fibroblasts). 3-5 About 50%80% of patients with CHS enter into an “accelerated phase,” manifested by fever, jaundice, hepatosplenomegaly, lymphadenopathy and widespread lymphohistiocytic organ infiltrates with hemophagocytosis, leading to pancytopenia, hypertriglyceredemia and hemodilution, and bleeding disorders secondary to low platelet and fibrinogen levels. 3,6,7 Attention to the disease was reportedly first drawn in 1940 by a physician who recognized peculiar leukocytes in a four-year-old Cuban girl and referred her to Dr. Chediak. Subsequently in 1952, Chediak described the full clinical and hematological features in four members of the same family. 8 All the children were similarly affected, exhibiting pale hair and photophobia, with frequent infection and lymphadenopathy, and all died at an early age. It was then that the large inclusion-like granules were noted in the blood and bone marrow granulocytes. 9

Chédiak-Higashi Syndrome: An Accelerated Phase with Hereditary Elliptocytosis: Case Report and Review of the Literature

Diagnosing epilepsy and epileptic seizures comprises a wide spectrum of different aspects, each with potential therapeutical relevance. In many cases, the question whether a paroxysmal event can be assigned to an epileptic disorder or classified as a nonepileptic event has to be given priority. Taking a detailed history, clinical monitoring of the paroxysms in question and EEG-recordings are the decisive diagnostic steps to differentiate psychogenic nonepileptic seizures and other short-lasting nonepileptic behavior of various grounds. Important information according to risk prevention and therapeutic measures can be drawn from thorough history taking and observation. Genetic and MRI examinations enable etiological and syndromic allocations, respectively, and in individual cases, imaging will reveal surgical remediable lesions yet in this population. Any clinical- and instrument-based diagnostic step referred to in this chapter requires a considerable amount of time and patience to communicate with the persons concerned and their caregivers; moreover, many examinations can be performed no better than under sedation.

Diagnosis of Epilepsy in Persons with Intellectual Disabilities

Primary spinal extranodal Hodgkin's disease at two levels.

Chediak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chediak-Higashi syndrome and seizures.

http://www.scielo.br/pdf/anp/v57n2b/1457.pdf

Seizures in Chédiak-Higashi syndrome: case report

A case of Hodgkin’s disease in which the first clinical manifestation was a radiculo-spinal compression is reported. The authors comment about the possible mechanisms to explain this radiculo-spinal compression in this granulomatosis. Spinal cord compression as early manifestation of Hodgkin’s disease: a case report

/pdf/spinal-cord-compression-as-early-manifestation-of-hodgkin-s-2k0nbkys2x.pdf

Spinal cord compression as early manifestation of Hodgkin's disease: a case report

E relatado o caso de paciente com doenca de Hodgkin cuja primeira manifestacao clinica traduziu-se com sindrome de compressao medular Os autores fazem comentarios sobre os mecanismos invocados para justificar a compressao radiculo-medular nesta granulomatose

/pdf/sindrome-de-compressao-medular-como-manifestacao-inicial-da-b4lgx7hgj5.pdf

Sindrome de compressão medular como manifestação inicial da doença de Hodgkin: registro de um caso

Sindrome de compressao medular como manifestacao inicial da doenca de hodgkin

The cases of four patients with lymphoma with leucemic conversion, who exhibitted neoplasic infiltration of the central nervous system and of the meninges are reported. The anatomo-pathologic study showed the presence of small nodules of leucemic cells, in two patients. The other two patients had clinical improvement after the use of metotrexate by spinal route so that the anatomo-pathologic study of their CNS and meninges showed no abnomality.

/pdf/infiltracao-do-sistema-nervoso-central-e-das-meninges-nos-420czme566.pdf

Infiltração do sistema nervoso central e das meninges nos linfomas com representação leucemica

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